AutismKB 2.0

Annotation Details for UNC13B


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Basic Information Top
Gene Symbol:UNC13B ( MGC133279,MGC133280,MUNC13,UNC13,Unc13h2,hmunc13 )
Gene Full Name: unc-13 homolog B (C. elegans)
Band: 9p13.3
Quick LinksEntrez ID:10497; OMIM: 605836; Uniprot ID:UN13B_HUMAN; ENSEMBL ID: ENSG00000198722; HGNC ID: 12566
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005794IDA-Golgi apparatus10233166
GO:0005829IDA-cytosol10233166
GO:0005829TAS-cytosol-
GO:0005886ISS-plasma membrane-
GO:0016020IDA-membrane9607201
GO:0030054IEA-cell junction-
GO:0031594IEA-neuromuscular junction-
GO:0032009IEA-early phagosome-
GO:0043195IBA-terminal bouton-
GO:0043195ISS-terminal bouton-
GO:0044305IEA-calyx of Held-
GO:0048786TAS-presynaptic active zone15217342
GO:0097470IEA-ribbon synapse-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding16138900
GO:0005516ISS-calmodulin binding-
GO:0017137NAS-Rab GTPase binding19641095
GO:0019992NAS-diacylglycerol binding10233166
GO:0030742IPI-GTP-dependent protein binding16138900
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0007268ISS-chemical synaptic transmission-
GO:0007269TAS-neurotransmitter secretion-
GO:0007528IEA-neuromuscular junction development-
GO:0010808ISS-positive regulation of synaptic vesicle priming-
GO:0014047TAS-glutamate secretion-
GO:0016079IBA-synaptic vesicle exocytosis-
GO:0016081IEA-synaptic vesicle docking-
GO:0016082ISS-synaptic vesicle priming-
GO:0031914IEA-negative regulation of synaptic plasticity-
GO:0035249IEA-synaptic transmission, glutamatergic-
GO:0035556IEA-intracellular signal transduction-
GO:0043065IDA-positive regulation of apoptotic process10233166
GO:0048172IEA-regulation of short-term neuronal synaptic plasticity-
GO:0050714IDA-positive regulation of protein secretion19641095
GO:0060384IEA-innervation-
GO:0071333IDA-cellular response to glucose stimulus19641095
GO:0090382IEA-phagosome maturation-
GO:0097151ISS-positive regulation of inhibitory postsynaptic potential-
GO:0099525IEA-presynaptic dense core vesicle exocytosis-
GO:1900426IEA-positive regulation of defense response to bacterium-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
UNC13BSNAP251157598999968 Co-fractionation
UNC13BSNAP251125008999968 Co-fractionation
UNC13BSPTBN21157599704016 Reconstituted Complex; Two-hybrid
UNC13BSPTBN21125909704016 Reconstituted Complex; Two-hybrid
UNC13BSTX1A1157598999968 Co-fractionation; Two-hybrid
UNC13BSTX1A1126768999968 Co-fractionation; Two-hybrid
UNC13BVAMP21157598999968 Co-fractionation
UNC13BVAMP21127118999968 Co-fractionation
UNC13BDOC2A1140269195900 9736751 Co-fractionation; Reconstituted Complex; Two-hybrid
UNC13BDOC2A1157599195900 9736751 Co-fractionation; Reconstituted Complex; Two-hybrid
UNC13BRPH3AL11575914593078 Reconstituted Complex
UNC13BRPH3AL11488014593078 Reconstituted Complex
STX1BUNC13B1157598999968 Co-fractionation; Two-hybrid
STX1BUNC13B1252038999968 Co-fractionation; Two-hybrid
RIMS1UNC13B11575911343654 12163476 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
RIMS1UNC13B11664611343654 12163476 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
WDR48UNC13B11575919615732 Affinity Capture-MS
WDR48UNC13B12164919615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1342278
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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