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Gene id 351
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol APP   Gene   UCSC   Ensembl
Aliases AAA, ABETA, ABPP, AD1, APPI, CTFgamma, CVAP, PN-II, PN2, preA4
Gene name amyloid beta precursor protein
Alternate names amyloid-beta A4 protein, alzheimer disease amyloid protein, amyloid beta (A4) precursor protein, amyloid beta A4 protein, amyloid precursor protein, beta-amyloid peptide, beta-amyloid peptide(1-40), beta-amyloid peptide(1-42), beta-amyloid precursor prote,
Gene location 21q21.3 (26171127: 25880549)     Exons: 20     NC_000021.9
Gene summary(Entrez) This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptio
OMIM 104760

SNPs
rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

Protein Summary
Protein general information P05067  

Name: Amyloid beta A4 protein (ABPP) (APPI) (APP) (Alzheimer disease amyloid protein) (Amyloid precursor protein) (Amyloid beta precursor protein) (Cerebral vascular amyloid peptide) (CVAP) (PreA4) (Protease nexin II) (PN II) [Cleaved into: N APP; Soluble APP a

Length: 770  Mass: 86,943

Sequence MLPGLALLLLAAWTARALEVPTDGNAGLLAEPQIAMFCGRLNMHMNVQNGKWDSDPSGTKTCIDTKEGILQYCQE
VYPELQITNVVEANQPVTIQNWCKRGRKQCKTHPHFVIPYRCLVGEFVSDALLVPDKCKFLHQERMDVCETHLHW
HTVAKETCSEKSTNLHDYGMLLPCGIDKFRGVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYADGSEDKV
VEVAEEEEVAEVEEEEADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTTTTTTESVEEVVREVCSEQAETGPC
RAMISRWYFDVTEGKCAPFFYGGCGGNRNNFDTEEYCMAVCGSAMSQSLLKTTQEPLARDPVKLPTTAASTPDAV
DKYLETPGDENEHAHFQKAKERLEAKHRERMSQVMREWEEAERQAKNLPKADKKAVIQHFQEKVESLEQEAANER
QQLVETHMARVEAMLNDRRRLALENYITALQAVPPRPRHVFNMLKKYVRAEQKDRQHTLKHFEHVRMVDPKKAAQ
IRSQVMTHLRVIYERMNQSLSLLYNVPAVAEEIQDEVDELLQKEQNYSDDVLANMISEPRISYGNDALMPSLTET
KTTVELLPVNGEFSLDDLQPWHSFGADSVPANTENEVEPVDARPAADRGLTTRPGSGLTNIKTEEISEVKMDAEF
RHDSGYEVHHQKLVFFAEDVGSNKGAIIGLMVGGVVIATVIVITLVMLKKKQYTSIHHGVVEVDAAVTPEERHLS
KMQQNGYENPTYKFFEQMQN
Structural information
Protein Domains
 BPTI/Kunitz (291-341)
Interpro:  IPR036669  IPR008155  IPR013803  IPR037071  IPR011178  
IPR024329  IPR008154  IPR019744  IPR015849  IPR036454  IPR019745  IPR028866  IPR019543  IPR036176  IPR002223  IPR036880  IPR011993  IPR020901  
Prosite:   PS00319 PS00320 PS00280 PS50279
CDD:   cd00109

PDB:  		 1AAP 1AMB 1AMC 1AML 1BA4 1BA6 1BJB 1BJC 1BRC 1CA0 1HZ3 1IYT 1MWP 1OWT 1QCM 1QWP 1QXC 1QYT 1TAW 1TKN 1UO7 1UO8 1UOA 1UOI 1X11 1Z0Q 1ZE7 1ZE9 1ZJD 2BEG 2BOM 2BP4 2FJZ 2FK1 2FK2 2FK3 2FKL 2FMA 2G47 2IPU 2LFM 2LLM 2LMN 2LMO 2LMP 2LMQ 2LNQ 2LOH 2LP1 2LZ3 2LZ4
PDBsum:   1AAP 1AMB 1AMC 1AML 1BA4 1BA6 1BJB 1BJC 1BRC 1CA0 1HZ3 1IYT 1MWP 1OWT 1QCM 1QWP 1QXC 1QYT 1TAW 1TKN 1UO7 1UO8 1UOA 1UOI 1X11 1Z0Q 1ZE7 1ZE9 1ZJD 2BEG 2BOM 2BP4 2FJZ 2FK1 2FK2 2FK3 2FKL 2FMA 2G47 2IPU 2LFM 2LLM 2LMN 2LMO 2LMP 2LMQ 2LNQ 2LOH 2LP1 2LZ3 2LZ4

DIP:  
574
MINT:  
STRING:   ENSP00000284981
Other Databases GeneCards:  APP  Malacards:  APP

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0001878 response to yeast
 IEA biological process
GO:0001878 response to yeast
 IMP biological process
GO:0001878 response to yeast
 IMP biological process
GO:0001967 suckling behavior
 IEA biological process
GO:0002576 platelet degranulation
 TAS biological process
GO:0003677 DNA binding
 ISS molecular function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IDA molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005615 extracellular space
 IDA cellular component
GO:0005641 nuclear envelope lumen
 IDA cellular component
GO:0005737 cytoplasm
 ISS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005768 endosome
 IDA cellular component
GO:0005790 smooth endoplasmic reticu
lum
 IEA cellular component
GO:0005791 rough endoplasmic reticul
um
 IEA cellular component
GO:0005794 Golgi apparatus
 ISS cellular component
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005887 integral component of pla
sma membrane
 TAS cellular component
GO:0005905 clathrin-coated pit
 IEA cellular component
GO:0005911 cell-cell junction
 IEA cellular component
GO:0006378 mRNA polyadenylation
 ISS biological process
GO:0006417 regulation of translation
 ISS biological process
GO:0006468 protein phosphorylation
 ISS biological process
GO:0006878 cellular copper ion homeo
stasis
 ISS biological process
GO:0006897 endocytosis
 ISS biological process
GO:0006979 response to oxidative str
ess
 IEA biological process
GO:0007155 cell adhesion
 IEA biological process
GO:0007176 regulation of epidermal g
rowth factor-activated re
ceptor activity
 ISS biological process
GO:0007219 Notch signaling pathway
 IEA biological process
GO:0007409 axonogenesis
 ISS biological process
GO:0007617 mating behavior
 ISS biological process
GO:0007626 locomotory behavior
 ISS biological process
GO:0008088 axo-dendritic transport
 ISS biological process
GO:0008201 heparin binding
 IEA molecular function
GO:0008203 cholesterol metabolic pro
cess
 IEA biological process
GO:0008344 adult locomotory behavior
 ISS biological process
GO:0008542 visual learning
 ISS biological process
GO:0009986 cell surface
 IDA cellular component
GO:0009986 cell surface
 IDA cellular component
GO:0009987 cellular process
 IMP biological process
GO:0010288 response to lead ion
 IEA biological process
GO:0010951 negative regulation of en
dopeptidase activity
 IEA biological process
GO:0010952 positive regulation of pe
ptidase activity
 IEA biological process
GO:0010971 positive regulation of G2
/M transition of mitotic
cell cycle
 IEA biological process
GO:0016021 integral component of mem
brane
 ISS cellular component
GO:0016199 axon midline choice point
recognition
 ISS biological process
GO:0016322 neuron remodeling
 ISS biological process
GO:0016358 dendrite development
 ISS biological process
GO:0016504 peptidase activator activ
ity
 IEA molecular function
GO:0019731 antibacterial humoral res
ponse
 IEA biological process
GO:0019731 antibacterial humoral res
ponse
 IDA biological process
GO:0019731 antibacterial humoral res
ponse
 IDA biological process
GO:0019732 antifungal humoral respon
se
 IEA biological process
GO:0019732 antifungal humoral respon
se
 IMP biological process
GO:0019732 antifungal humoral respon
se
 IMP biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0030134 ER to Golgi transport ves
icle
 IEA cellular component
GO:0030198 extracellular matrix orga
nization
 ISS biological process
GO:0030198 extracellular matrix orga
nization
 TAS biological process
GO:0030424 axon
 ISS cellular component
GO:0030900 forebrain development
 IEA biological process
GO:0031093 platelet alpha granule lu
men
 TAS cellular component
GO:0031175 neuron projection develop
ment
 ISS biological process
GO:0031594 neuromuscular junction
 IEA cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0033130 acetylcholine receptor bi
nding
 IPI molecular function
GO:0035235 ionotropic glutamate rece
ptor signaling pathway
 ISS biological process
GO:0035253 ciliary rootlet
 IEA cellular component
GO:0040014 regulation of multicellul
ar organism growth
 ISS biological process
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0043195 terminal bouton
 IEA cellular component
GO:0043197 dendritic spine
 IDA cellular component
GO:0043198 dendritic shaft
 IDA cellular component
GO:0043231 intracellular membrane-bo
unded organelle
 IDA cellular component
GO:0043235 receptor complex
 IDA cellular component
GO:0043393 regulation of protein bin
ding
 IEA biological process
GO:0044267 cellular protein metaboli
c process
 TAS biological process
GO:0044304 main axon
 IEA cellular component
GO:0045087 innate immune response
 IMP biological process
GO:0045087 innate immune response
 IMP biological process
GO:0045087 innate immune response
 TAS biological process
GO:0045121 membrane raft
 IDA cellular component
GO:0045177 apical part of cell
 IEA cellular component
GO:0045202 synapse
 IDA cellular component
GO:0045665 negative regulation of ne
uron differentiation
 IEA biological process
GO:0045931 positive regulation of mi
totic cell cycle
 ISS biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological process
GO:0046914 transition metal ion bind
ing
 IEA molecular function
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular component
GO:0048669 collateral sprouting in a
bsence of injury
 ISS biological process
GO:0050803 regulation of synapse str
ucture or activity
 ISS biological process
GO:0050829 defense response to Gram-
negative bacterium
 IEA biological process
GO:0050829 defense response to Gram-
negative bacterium
 IDA biological process
GO:0050829 defense response to Gram-
negative bacterium
 IDA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IEA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IDA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IDA biological process
GO:0050885 neuromuscular process con
trolling balance
 IEA biological process
GO:0051124 synaptic growth at neurom
uscular junction
 IEA biological process
GO:0051233 spindle midzone
 IEA cellular component
GO:0051402 neuron apoptotic process
 IMP biological process
GO:0051425 PTB domain binding
 IPI molecular function
GO:0051563 smooth endoplasmic reticu
lum calcium ion homeostas
is
 IEA biological process
GO:0070062 extracellular exosome
 IDA cellular component
GO:0070062 extracellular exosome
 IDA cellular component
GO:0070851 growth factor receptor bi
nding
 IEA molecular function
GO:0071320 cellular response to cAMP
 IEA biological process
GO:0071874 cellular response to nore
pinephrine stimulus
 IEA biological process
GO:0097449 astrocyte projection
 IEA cellular component
GO:1990000 amyloid fibril formation
 IMP biological process
GO:1990090 cellular response to nerv
e growth factor stimulus
 IEA biological process
GO:1990761 growth cone lamellipodium
 IEA cellular component
GO:1990812 growth cone filopodium
 IEA cellular component
GO:0001878 response to yeast
 IEA biological process
GO:0001878 response to yeast
 IMP biological process
GO:0001878 response to yeast
 IMP biological process
GO:0001967 suckling behavior
 IEA biological process
GO:0002576 platelet degranulation
 TAS biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 ISS molecular function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IEA molecular function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IEA molecular function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IDA molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005615 extracellular space
 IEA cellular component
GO:0005615 extracellular space
 IDA cellular component
GO:0005641 nuclear envelope lumen
 IDA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 ISS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005768 endosome
 IDA cellular component
GO:0005790 smooth endoplasmic reticu
lum
 IEA cellular component
GO:0005791 rough endoplasmic reticul
um
 IEA cellular component
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0005794 Golgi apparatus
 ISS cellular component
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005887 integral component of pla
sma membrane
 TAS cellular component
GO:0005905 clathrin-coated pit
 IEA cellular component
GO:0005905 clathrin-coated pit
 IEA cellular component
GO:0005911 cell-cell junction
 IEA cellular component
GO:0006378 mRNA polyadenylation
 IEA biological process
GO:0006378 mRNA polyadenylation
 ISS biological process
GO:0006417 regulation of translation
 IEA biological process
GO:0006417 regulation of translation
 ISS biological process
GO:0006468 protein phosphorylation
 IEA biological process
GO:0006468 protein phosphorylation
 ISS biological process
GO:0006878 cellular copper ion homeo
stasis
 IEA biological process
GO:0006878 cellular copper ion homeo
stasis
 ISS biological process
GO:0006897 endocytosis
 IEA biological process
GO:0006897 endocytosis
 ISS biological process
GO:0006897 endocytosis
 IEA biological process
GO:0006915 apoptotic process
 IEA biological process
GO:0006979 response to oxidative str
ess
 IEA biological process
GO:0007155 cell adhesion
 IEA biological process
GO:0007176 regulation of epidermal g
rowth factor-activated re
ceptor activity
 IEA biological process
GO:0007176 regulation of epidermal g
rowth factor-activated re
ceptor activity
 ISS biological process
GO:0007219 Notch signaling pathway
 IEA biological process
GO:0007399 nervous system developmen
t
 IEA biological process
GO:0007409 axonogenesis
 IEA biological process
GO:0007409 axonogenesis
 ISS biological process
GO:0007617 mating behavior
 IEA biological process
GO:0007617 mating behavior
 ISS biological process
GO:0007626 locomotory behavior
 IEA biological process
GO:0007626 locomotory behavior
 ISS biological process
GO:0008088 axo-dendritic transport
 IEA biological process
GO:0008088 axo-dendritic transport
 ISS biological process
GO:0008201 heparin binding
 IEA molecular function
GO:0008201 heparin binding
 IEA molecular function
GO:0008203 cholesterol metabolic pro
cess
 IEA biological process
GO:0008344 adult locomotory behavior
 IEA biological process
GO:0008344 adult locomotory behavior
 ISS biological process
GO:0008542 visual learning
 IEA biological process
GO:0008542 visual learning
 ISS biological process
GO:0009986 cell surface
 IEA cellular component
GO:0009986 cell surface
 IDA cellular component
GO:0009986 cell surface
 IDA cellular component
GO:0009987 cellular process
 IMP biological process
GO:0010288 response to lead ion
 IEA biological process
GO:0010466 negative regulation of pe
ptidase activity
 IEA biological process
GO:0010468 regulation of gene expres
sion
 IEA biological process
GO:0010951 negative regulation of en
dopeptidase activity
 IEA biological process
GO:0010952 positive regulation of pe
ptidase activity
 IEA biological process
GO:0010971 positive regulation of G2
/M transition of mitotic
cell cycle
 IEA biological process
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016021 integral component of mem
brane
 ISS cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016199 axon midline choice point
recognition
 IEA biological process
GO:0016199 axon midline choice point
recognition
 ISS biological process
GO:0016322 neuron remodeling
 IEA biological process
GO:0016322 neuron remodeling
 ISS biological process
GO:0016358 dendrite development
 IEA biological process
GO:0016358 dendrite development
 ISS biological process
GO:0016504 peptidase activator activ
ity
 IEA molecular function
GO:0019731 antibacterial humoral res
ponse
 IEA biological process
GO:0019731 antibacterial humoral res
ponse
 IDA biological process
GO:0019731 antibacterial humoral res
ponse
 IDA biological process
GO:0019732 antifungal humoral respon
se
 IEA biological process
GO:0019732 antifungal humoral respon
se
 IMP biological process
GO:0019732 antifungal humoral respon
se
 IMP biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0030134 ER to Golgi transport ves
icle
 IEA cellular component
GO:0030198 extracellular matrix orga
nization
 IEA biological process
GO:0030198 extracellular matrix orga
nization
 ISS biological process
GO:0030198 extracellular matrix orga
nization
 TAS biological process
GO:0030414 peptidase inhibitor activ
ity
 IEA molecular function
GO:0030424 axon
 IEA cellular component
GO:0030424 axon
 ISS cellular component
GO:0030426 growth cone
 IEA cellular component
GO:0030900 forebrain development
 IEA biological process
GO:0031093 platelet alpha granule lu
men
 TAS cellular component
GO:0031175 neuron projection develop
ment
 IEA biological process
GO:0031175 neuron projection develop
ment
 ISS biological process
GO:0031410 cytoplasmic vesicle
 IEA cellular component
GO:0031594 neuromuscular junction
 IEA cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0033130 acetylcholine receptor bi
nding
 IPI molecular function
GO:0035235 ionotropic glutamate rece
ptor signaling pathway
 IEA biological process
GO:0035235 ionotropic glutamate rece
ptor signaling pathway
 ISS biological process
GO:0035253 ciliary rootlet
 IEA cellular component
GO:0040014 regulation of multicellul
ar organism growth
 IEA biological process
GO:0040014 regulation of multicellul
ar organism growth
 ISS biological process
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0043005 neuron projection
 IEA cellular component
GO:0043195 terminal bouton
 IEA cellular component
GO:0043197 dendritic spine
 IDA cellular component
GO:0043198 dendritic shaft
 IDA cellular component
GO:0043231 intracellular membrane-bo
unded organelle
 IDA cellular component
GO:0043235 receptor complex
 IDA cellular component
GO:0043393 regulation of protein bin
ding
 IEA biological process
GO:0044267 cellular protein metaboli
c process
 TAS biological process
GO:0044304 main axon
 IEA cellular component
GO:0045087 innate immune response
 IEA biological process
GO:0045087 innate immune response
 IMP biological process
GO:0045087 innate immune response
 IMP biological process
GO:0045087 innate immune response
 TAS biological process
GO:0045121 membrane raft
 IDA cellular component
GO:0045177 apical part of cell
 IEA cellular component
GO:0045202 synapse
 IDA cellular component
GO:0045665 negative regulation of ne
uron differentiation
 IEA biological process
GO:0045931 positive regulation of mi
totic cell cycle
 IEA biological process
GO:0045931 positive regulation of mi
totic cell cycle
 ISS biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0046914 transition metal ion bind
ing
 IEA molecular function
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular component
GO:0048669 collateral sprouting in a
bsence of injury
 IEA biological process
GO:0048669 collateral sprouting in a
bsence of injury
 ISS biological process
GO:0050803 regulation of synapse str
ucture or activity
 IEA biological process
GO:0050803 regulation of synapse str
ucture or activity
 ISS biological process
GO:0050829 defense response to Gram-
negative bacterium
 IEA biological process
GO:0050829 defense response to Gram-
negative bacterium
 IDA biological process
GO:0050829 defense response to Gram-
negative bacterium
 IDA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IEA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IDA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IDA biological process
GO:0050885 neuromuscular process con
trolling balance
 IEA biological process
GO:0051124 synaptic growth at neurom
uscular junction
 IEA biological process
GO:0051233 spindle midzone
 IEA cellular component
GO:0051402 neuron apoptotic process
 IMP biological process
GO:0051425 PTB domain binding
 IPI molecular function
GO:0051563 smooth endoplasmic reticu
lum calcium ion homeostas
is
 IEA biological process
GO:0070062 extracellular exosome
 IDA cellular component
GO:0070062 extracellular exosome
 IDA cellular component
GO:0070851 growth factor receptor bi
nding
 IEA molecular function
GO:0071320 cellular response to cAMP
 IEA biological process
GO:0071874 cellular response to nore
pinephrine stimulus
 IEA biological process
GO:0097449 astrocyte projection
 IEA cellular component
GO:1990000 amyloid fibril formation
 IMP biological process
GO:1990090 cellular response to nerv
e growth factor stimulus
 IEA biological process
GO:1990761 growth cone lamellipodium
 IEA cellular component
GO:1990812 growth cone filopodium
 IEA cellular component
GO:0001878 response to yeast
 IMP biological process
GO:0001878 response to yeast
 IMP biological process
GO:0002576 platelet degranulation
 TAS biological process
GO:0003677 DNA binding
 ISS molecular function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IDA molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005615 extracellular space
 IDA cellular component
GO:0005641 nuclear envelope lumen
 IDA cellular component
GO:0005737 cytoplasm
 ISS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005768 endosome
 IDA cellular component
GO:0005794 Golgi apparatus
 ISS cellular component
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0005887 integral component of pla
sma membrane
 TAS cellular component
GO:0006378 mRNA polyadenylation
 ISS biological process
GO:0006417 regulation of translation
 ISS biological process
GO:0006468 protein phosphorylation
 ISS biological process
GO:0006878 cellular copper ion homeo
stasis
 ISS biological process
GO:0006897 endocytosis
 ISS biological process
GO:0007176 regulation of epidermal g
rowth factor-activated re
ceptor activity
 ISS biological process
GO:0007409 axonogenesis
 ISS biological process
GO:0007617 mating behavior
 ISS biological process
GO:0007626 locomotory behavior
 ISS biological process
GO:0008088 axo-dendritic transport
 ISS biological process
GO:0008344 adult locomotory behavior
 ISS biological process
GO:0008542 visual learning
 ISS biological process
GO:0009986 cell surface
 IDA cellular component
GO:0009986 cell surface
 IDA cellular component
GO:0009987 cellular process
 IMP biological process
GO:0016021 integral component of mem
brane
 ISS cellular component
GO:0016199 axon midline choice point
recognition
 ISS biological process
GO:0016322 neuron remodeling
 ISS biological process
GO:0016358 dendrite development
 ISS biological process
GO:0019731 antibacterial humoral res
ponse
 IDA biological process
GO:0019731 antibacterial humoral res
ponse
 IDA biological process
GO:0019732 antifungal humoral respon
se
 IMP biological process
GO:0019732 antifungal humoral respon
se
 IMP biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0030198 extracellular matrix orga
nization
 ISS biological process
GO:0030198 extracellular matrix orga
nization
 TAS biological process
GO:0030424 axon
 ISS cellular component
GO:0031093 platelet alpha granule lu
men
 TAS cellular component
GO:0031175 neuron projection develop
ment
 ISS biological process
GO:0031904 endosome lumen
 TAS cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0031904 endosome lumen
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0033130 acetylcholine receptor bi
nding
 IPI molecular function
GO:0035235 ionotropic glutamate rece
ptor signaling pathway
 ISS biological process
GO:0040014 regulation of multicellul
ar organism growth
 ISS biological process
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0043197 dendritic spine
 IDA cellular component
GO:0043198 dendritic shaft
 IDA cellular component
GO:0043231 intracellular membrane-bo
unded organelle
 IDA cellular component
GO:0043235 receptor complex
 IDA cellular component
GO:0044267 cellular protein metaboli
c process
 TAS biological process
GO:0045087 innate immune response
 IMP biological process
GO:0045087 innate immune response
 IMP biological process
GO:0045087 innate immune response
 TAS biological process
GO:0045121 membrane raft
 IDA cellular component
GO:0045202 synapse
 IDA cellular component
GO:0045931 positive regulation of mi
totic cell cycle
 ISS biological process
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular component
GO:0048669 collateral sprouting in a
bsence of injury
 ISS biological process
GO:0050803 regulation of synapse str
ucture or activity
 ISS biological process
GO:0050829 defense response to Gram-
negative bacterium
 IDA biological process
GO:0050829 defense response to Gram-
negative bacterium
 IDA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IDA biological process
GO:0050830 defense response to Gram-
positive bacterium
 IDA biological process
GO:0051402 neuron apoptotic process
 IMP biological process
GO:0051425 PTB domain binding
 IPI molecular function
GO:0070062 extracellular exosome
 IDA cellular component
GO:0070062 extracellular exosome
 IDA cellular component
GO:1990000 amyloid fibril formation
 IMP biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04726Serotonergic synapse
hsa05010Alzheimer disease

Diseases

Expand All | Collapse All
Associated diseases References
Atherosclerosis GAD: 15769795
Cerebral amyloid angiopathy (CAA) KEGG: H01185
Macular degeneration GAD: 18842294
Celiac disease GAD: 19240061
Amyloidosis GAD: 20697050
Lewy body disease GAD: 9178856
Alzheimer's disease KEGG: H00056
Dementia GAD: 15975068
Psychological disorders GAD: 15975068
Cognitive function GAD: 17601350
Male factor infertility MIK: 18469041
Spermatogenesis defects MIK: 23608167
Cryptorchidism MIK: 28606200
Male fertility MIK: 18469041
Spermatogenic failure MIK: 23608167
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23608167 Spermatoge
nic failur
e
720 (338 patien
ts with idiopat
hic oligozoospe
rmia or azoospe
rmia, 382 ferti
le controls)
 Male infertility
Show abstract
18469041 Male ferti
lity

Male infertility
Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract