AutismKB 2.0

Annotation Details for UNC13A


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Basic Information Top
Gene Symbol:UNC13A ( KIAA1032,Munc13-1 )
Gene Full Name: unc-13 homolog A (C. elegans)
Band: 19p13.11
Quick LinksEntrez ID:23025; OMIM: 609894; Uniprot ID:UN13A_HUMAN; ENSEMBL ID: ENSG00000130477; HGNC ID: 23150
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO:0030054IEA-cell junction-
GO:0031594IEA-neuromuscular junction-
GO:0042734ISS-presynaptic membrane-
GO:0043005ISS-neuron projection-
GO:0043195IBA-terminal bouton-
GO:0044305IEA-calyx of Held-
GO:0048786TAS-presynaptic active zone15217342
GO ID Evidence Qualifier GO_term References
GO:0005516ISS-calmodulin binding-
GO:0017075ISS-syntaxin-1 binding-
GO:0019992IEA-diacylglycerol binding-
GO:0046872IEA-metal ion binding-
GO:0047485ISS-protein N-terminus binding-
GO ID Evidence Qualifier GO_term References
GO:0001956IEA-positive regulation of neurotransmitter secretion-
GO:0007269ISS-neurotransmitter secretion-
GO:0007528IEA-neuromuscular junction development-
GO:0016079IBA-synaptic vesicle exocytosis-
GO:0016081IEA-synaptic vesicle docking-
GO:0016082IEA-synaptic vesicle priming-
GO:0016188IEA-synaptic vesicle maturation-
GO:0031915IEA-positive regulation of synaptic plasticity-
GO:0035249IEA-synaptic transmission, glutamatergic-
GO:0035556IEA-intracellular signal transduction-
GO:0048172IEA-regulation of short-term neuronal synaptic plasticity-
GO:0050435IEA-amyloid-beta metabolic process-
GO:0051966TAS-regulation of synaptic transmission, glutamatergic15217342
GO:0060384IEA-innervation-
GO:0099525IEA-presynaptic dense core vesicle exocytosis-
GO:1900451IEA-positive regulation of glutamate receptor signaling pathway-
GO:1902991IEA-regulation of amyloid precursor protein catabolic process-
GO:1903861IDA-positive regulation of dendrite extension23999003
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
UNC13ABSN11444114734538 Affinity Capture-Western
UNC13ABSN11666514734538 Affinity Capture-Western
ERC2UNC13A11752114734538 Affinity Capture-Western
ERC2UNC13A11666514734538 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3051532
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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