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APBA2 (amyloid beta precursor protein binding family A member 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
321
Gene nameGene Name - the full gene name approved by the HGNC.
Amyloid beta precursor protein binding family A member 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
APBA2
SynonymsGene synonyms aliases
D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019347 hsa-miR-148b-3p Microarray 17612493
MIRT039930 hsa-miR-615-3p CLASH 23622248
MIRT788736 hsa-miR-1253 CLIP-seq
MIRT788737 hsa-miR-1909 CLIP-seq
MIRT788738 hsa-miR-198 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IBA 21873635
GO:0005515 Function Protein binding IPI 10833507, 17332754, 29578633, 31413325
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0007268 Process Chemical synaptic transmission IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q99767
Protein 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)
Protein function Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00640 PID
372 530
Phosphotyrosine interaction domain (PTB/PID)
Domain
PF00595 PDZ
568 652
PDZ domain
Domain
PF00595 PDZ
659 732
PDZ domain
Domain
Sequence
MAHRKLESVGSGMLDHRVRPGPVPHSQEPESEDMELPLEGYVPEGLELAALRPESPAPEE
QECHNHSPDGDSSSDYVNNTSEEEDYDEGLPEEEEGITYYIRYCPEDDSYLEGMDCNGEE
YLAHSAHPVDTDECQEAVEEWTDSAGPHPHGHEAEGSQDYPDGQLPIPEDEPSVLEAHDQ
EEDGHYCASKEGYQDYYPEEANGNTGASPYRLRRGDGDLEDQEEDIDQIVAEIKMSLSMT
SITSASEASPEHGPEPGPEDSVEACPPIKASCSPSRHEARPKSLNLLPEAKHPGDPQRGF
KPKTRTPEERLKWPHEQVCNGLEQPRKQQRSDLNGPVDNNNIPETKKVASFPSFVAVPGP
CEPEDLIDGIIFAANYLGSTQLLSERNPSKNIRMMQAQEAVSRVKRMQKAAKIKKKANSE
GDAQTLTEVDLFISTQRIKVLNADTQETMMDHALRTISYIADIGNIVVLMARRRMPRSAS
QDCIETTPGAQEGKKQYKMICHVFESEDAQLIAQSIGQAFSVAYQEFLRA
NGINPEDLSQ
KEYSDIINTQEMYNDDLIHFSNSENCKELQLEKHKGEILGVVVVESGWGSILPTVILANM
MNGGPAARSGKLSIGDQIMSINGTSLVGLPLATCQGIIKGLKNQTQVKLNIV
SCPPVTTV
LIKRPDLKYQLGFSVQNGIICSLMRGGIAERGGVRVGHRIIEINGQSVVATAHEKIVQAL
SNSVGEIHMKTM
PAAMFRLLTGQETPLYI
Sequence length 749
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 17989066
Unknown
Disease name Disease term dbSNP ID References
Dermatologic disorders Dermatologic disorders 28720099

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