• Gene id: 334

Gene Summary

• Gene Symbol: APLP2   Gene   UCSC   Ensembl
• Aliases: APLP-2, APPH, APPL2, CDEBP
• Gene name: amyloid beta precursor like protein 2
• Alternate names: amyloid-like protein 2, CDEI box-binding protein, amyloid beta (A4) precursor-like protein 2, amyloid precursor protein homolog HSD-2, testicular tissue protein Li 23,
• Gene location: 11q24.3 (31952045: 31944336)     Exons: 5     NC_000020.11
• Gene summary(Entrez): This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at
• OMIM: 104776

SNPs

rs3741843

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

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

Protein Summary

• Protein general information: Q06481  
  • Name: Amyloid like protein 2 (APLP 2) (APPH) (Amyloid protein homolog) (CDEI box binding protein) (CDEBP)
  • Length: 763  
  • Mass: 86956
  • Tissue specificity: Expressed in placenta, brain, heart, lung, liver, kidney and endothelial tissues.
• Sequence:

  MAATGTAAAAATGRLLLLLLVGLTAPALALAGYIEALAANAGTGFAVAEPQIAMFCGKLNMHVNIQTGKWEPDPT
  GTKSCFETKEEVLQYCQEMYPELQITNVMEANQRVSIDNWCRRDKKQCKSRFVTPFKCLVGEFVSDVLLVPEKCQ
  FFHKERMEVCENHQHWHTVVKEACLTQGMTLYSYGMLLPCGVDQFHGTEYVCCPQTKIIGSVSKEEEEEDEEEEE
  EEDEEEDYDVYKSEFPTEADLEDFTEAAVDEDDEDEEEGEEVVEDRDYYYDTFKGDDYNEENPTEPGSDGTMSDK
  EITHDVKAVCSQEAMTGPCRAVMPRWYFDLSKGKCVRFIYGGCGGNRNNFESEDYCMAVCKAMIPPTPLPTNDVD
  VYFETSADDNEHARFQKAKEQLEIRHRNRMDRVKKEWEEAELQAKNLPKAERQTLIQHFQAMVKALEKEAASEKQ
  QLVETHLARVEAMLNDRRRMALENYLAALQSDPPRPHRILQALRRYVRAENKDRLHTIRHYQHVLAVDPEKAAQM
  KSQVMTHLHVIEERRNQSLSLLYKVPYVAQEIQEEIDELLQEQRADMDQFTASISETPVDVRVSSEESEEIPPFH
  PFHPFPALPENEDTQPELYHPMKKGSGVGEQDGGLIGAEEKVINSKNKVDENMVIDETLDVKEMIFNAERVGGLE
  EERESVGPLREDFSLSSSALIGLLVIAVAIATVIVISLVMLRKRQYGTISHGIVEVDPMLTPEERHLNKMQNHGY
  ENPTYKYLEQMQI

• Structural information:
  • Protein Domains: (46..20-)
    (/note="E1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01217-)
    (306..36-)
    (/note="BPTI/Kunitz-inhibitor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00031-)
    (373..56-)
    (/note="E2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01-)
  • Interpro: IPR036669  IPR008155  IPR011178  IPR024329  IPR008154   IPR015849  IPR036454  IPR019745  IPR019543  IPR019744  IPR036176  IPR002223  IPR036880  IPR011993  IPR020901  
  • Prosite: PS00319 PS51869 PS51870 PS00320 PS00280 PS50279
  • CDD: cd00109
  • PDB: 5JBT 5TPT
  • PDBsum: 5JBT 5TPT
  • DIP: 31047
  • STRING: ENSP00000263574
• Other Databases: GeneCards:  APLP2  Malacards:  APLP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046914	transition metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0042802	identical 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:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003677	DNA binding	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881