Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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321 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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APBA2 |
SynonymsGene synonyms aliases
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D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L |
ChromosomeChromosome number
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15 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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15q13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
749 |
Interactions |
View interactions |
Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Dermatologic disorders |
Dermatologic disorders |
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28720099 |
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