• Gene id: 321

Gene Summary

• Gene Symbol: APBA2   Gene   UCSC   Ensembl
• Aliases: D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L
• Gene name: amyloid beta precursor protein binding family A member 2
• Alternate names: amyloid-beta A4 precursor protein-binding family A member 2, X11-like protein, adapter protein X11beta, amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like), mint-2, neuron-specific X11L protein, neuronal munc18-1-interacting protein 2, pho,
• Gene location: 15q13.1 (28885478: 29118314)     Exons: 22     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments in
• OMIM: 602712

SNPs

rs3212293

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

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: Q99767  
  • Name: Amyloid beta A4 precursor protein binding family A member 2 (Adapter protein X11beta) (Neuron specific X11L protein) (Neuronal Munc18 1 interacting protein 2) (Mint 2)
  • Length: 749  
  • Mass: 82512
  • Tissue specificity: Brain.
• Sequence:

  MAHRKLESVGSGMLDHRVRPGPVPHSQEPESEDMELPLEGYVPEGLELAALRPESPAPEEQECHNHSPDGDSSSD
  YVNNTSEEEDYDEGLPEEEEGITYYIRYCPEDDSYLEGMDCNGEEYLAHSAHPVDTDECQEAVEEWTDSAGPHPH
  GHEAEGSQDYPDGQLPIPEDEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPYRLRRGDGDLEDQEED
  IDQIVAEIKMSLSMTSITSASEASPEHGPEPGPEDSVEACPPIKASCSPSRHEARPKSLNLLPEAKHPGDPQRGF
  KPKTRTPEERLKWPHEQVCNGLEQPRKQQRSDLNGPVDNNNIPETKKVASFPSFVAVPGPCEPEDLIDGIIFAAN
  YLGSTQLLSERNPSKNIRMMQAQEAVSRVKRMQKAAKIKKKANSEGDAQTLTEVDLFISTQRIKVLNADTQETMM
  DHALRTISYIADIGNIVVLMARRRMPRSASQDCIETTPGAQEGKKQYKMICHVFESEDAQLIAQSIGQAFSVAYQ
  EFLRANGINPEDLSQKEYSDIINTQEMYNDDLIHFSNSENCKELQLEKHKGEILGVVVVESGWGSILPTVILANM
  MNGGPAARSGKLSIGDQIMSINGTSLVGLPLATCQGIIKGLKNQTQVKLNIVSCPPVTTVLIKRPDLKYQLGFSV
  QNGIICSLMRGGIAERGGVRVGHRIIEINGQSVVATAHEKIVQALSNSVGEIHMKTMPAAMFRLLTGQETPLYI

• Structural information:
  • Protein Domains: (368..55-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148-)
    (568..65-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (659..73-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR030529  IPR001478  IPR036034  IPR011993  IPR006020  
  • Prosite: PS50106 PS01179
  • STRING: ENSP00000453293
• Other Databases: GeneCards:  APBA2  Malacards:  APBA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0007399	nervous system development	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:0005886	plasma membrane	IEA	cellular component
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0035264	multicellular organism growth	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0007626	locomotory behavior	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray