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UNC13B (unc-13 homolog B)

Identity

Alias (NCBI)MUNC13
UNC13
Unc13h2
munc13-2
HGNC (Hugo) UNC13B
HGNC Alias symbhmunc13
Unc13h2
Munc13-2
HGNC Previous nameUNC13
HGNC Previous nameunc-13-like (C. elegans)
 unc-13 homolog B (C. elegans)
LocusID (NCBI) 10497
Atlas_Id 54755
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35162009 and ends at 35405338 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
APAF1 (12q23.1) / UNC13B (9p13.3)FOCAD (9p21.3) / UNC13B (9p13.3)UNC13B (9p13.3) / DDT (22q11.23)
UNC13B (9p13.3) / DNER (2q36.3)UNC13B (9p13.3) / ENHO (9p13.3)UNC13B (9p13.3) / FOCAD (9p21.3)
UNC13B (9p13.3) / PTPRD (9p24.1)UNC13B (9p13.3) / RANGAP1 (22q13.2)UNC13B (9p13.3) / TAF7L (Xq22.1)
UNC13B 9p13.3 / DNER 2q36.3UNC13B 9p13.3 / PTPRD 9p24.1UNC13B 9p13.3 / TAF7L Xq22.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)UNC13B   12566
Cards
Entrez_Gene (NCBI)UNC13B    unc-13 homolog B
AliasesMUNC13; UNC13; Unc13h2; munc13-2
GeneCards (Weizmann)UNC13B
Ensembl hg19 (Hinxton)ENSG00000198722 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198722 [Gene_View]  ENSG00000198722 [Sequence]  chr9:35162009-35405338 [Contig_View]  UNC13B [Vega]
ICGC DataPortalENSG00000198722
TCGA cBioPortalUNC13B
AceView (NCBI)UNC13B
Genatlas (Paris)UNC13B
SOURCE (Princeton)UNC13B
Genetics Home Reference (NIH)UNC13B
Genomic and cartography
GoldenPath hg38 (UCSC)UNC13B  -     chr9:35162009-35405338 +  9p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UNC13B  -     9p13.3   [Description]    (hg19-Feb_2009)
GoldenPathUNC13B - 9p13.3 [CytoView hg19]  UNC13B - 9p13.3 [CytoView hg38]
ImmunoBaseENSG00000198722
Genome Data Viewer NCBIUNC13B [Mapview hg19]  
OMIM605836   
Gene and transcription
Genbank (Entrez)AB209998 AF020202 AK296836 AW245437 BC111781
RefSeq transcript (Entrez)NM_001330653 NM_001371186 NM_001371187 NM_001371188 NM_001371189 NM_001387551 NM_001387553 NM_001387554 NM_001387555 NM_006377
Consensus coding sequences : CCDS (NCBI)UNC13B
Gene ExpressionUNC13B [ NCBI-GEO ]   UNC13B [ EBI - ARRAY_EXPRESS ]   UNC13B [ SEEK ]   UNC13B [ MEM ]
Gene Expression Viewer (FireBrowse)UNC13B [ Firebrowse - Broad ]
GenevisibleExpression of UNC13B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10497
GTEX Portal (Tissue expression)UNC13B
Human Protein AtlasENSG00000198722-UNC13B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14795   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14795  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14795
PhosPhoSitePlusO14795
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    MHD1 (PS51258)    MHD2 (PS51259)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)C2_dom    C2_domain_sf    CAPS_dom    Munc13_1    Munc13_dom-2    Munc13_subgr_dom-2    PE/DAG-bd    Unc-13    Unc-13_C2B   
Domain families : Pfam (Sanger)C1_1 (PF00130)    C2 (PF00168)    DUF1041 (PF06292)    Membr_traf_MHD (PF10540)   
Domain families : Pfam (NCBI)pfam00130    pfam00168    pfam06292    pfam10540   
Domain families : Smart (EMBL)C1 (SM00109)  C2 (SM00239)  DUF1041 (SM01145)  
Conserved Domain (NCBI)UNC13B
SuperfamilyO14795
AlphaFold pdb e-kbO14795   
Human Protein Atlas [tissue]ENSG00000198722-UNC13B [tissue]
HPRD05785
Protein Interaction databases
DIP (DOE-UCLA)O14795
IntAct (EBI)O14795
BioGRIDUNC13B
STRING (EMBL)UNC13B
ZODIACUNC13B
Ontologies - Pathways
QuickGOO14795
Ontology : AmiGOcalcium ion binding  protein binding  calmodulin binding  calmodulin binding  phospholipid binding  Golgi apparatus  cytosol  cytosol  plasma membrane  plasma membrane  neurotransmitter transport  chemical synaptic transmission  neuromuscular junction development  positive regulation of synaptic vesicle priming  membrane  synaptic vesicle docking  synaptic vesicle priming  synaptic vesicle priming  synaptic vesicle maturation  syntaxin-1 binding  diacylglycerol binding  synaptic vesicle membrane  GTP-dependent protein binding  small GTPase binding  neuromuscular junction  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  positive regulation of apoptotic process  terminal bouton  terminal bouton  presynaptic active zone  positive regulation of protein secretion  acrosomal vesicle exocytosis  dense core granule priming  cellular response to glucose stimulus  positive regulation of inhibitory postsynaptic potential  presynaptic active zone cytoplasmic component  neuronal dense core vesicle exocytosis  presynaptic dense core vesicle exocytosis  
Ontology : EGO-EBIcalcium ion binding  protein binding  calmodulin binding  calmodulin binding  phospholipid binding  Golgi apparatus  cytosol  cytosol  plasma membrane  plasma membrane  neurotransmitter transport  chemical synaptic transmission  neuromuscular junction development  positive regulation of synaptic vesicle priming  membrane  synaptic vesicle docking  synaptic vesicle priming  synaptic vesicle priming  synaptic vesicle maturation  syntaxin-1 binding  diacylglycerol binding  synaptic vesicle membrane  GTP-dependent protein binding  small GTPase binding  neuromuscular junction  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  positive regulation of apoptotic process  terminal bouton  terminal bouton  presynaptic active zone  positive regulation of protein secretion  acrosomal vesicle exocytosis  dense core granule priming  cellular response to glucose stimulus  positive regulation of inhibitory postsynaptic potential  presynaptic active zone cytoplasmic component  neuronal dense core vesicle exocytosis  presynaptic dense core vesicle exocytosis  
Pathways : KEGGSynaptic vesicle cycle   
NDEx NetworkUNC13B
Atlas of Cancer Signalling NetworkUNC13B
Wikipedia pathwaysUNC13B
Orthology - Evolution
OrthoDB10497
GeneTree (enSembl)ENSG00000198722
Phylogenetic Trees/Animal Genes : TreeFamUNC13B
Homologs : HomoloGeneUNC13B
Homology/Alignments : Family Browser (UCSC)UNC13B
Gene fusions - Rearrangements
Fusion : MitelmanAPAF1/UNC13B [12q23.1/9p13.3]  
Fusion : MitelmanUNC13B/DNER [9p13.3/2q36.3]  
Fusion : MitelmanUNC13B/PTPRD [9p13.3/9p24.1]  
Fusion : MitelmanUNC13B/TAF7L [9p13.3/Xq22.1]  
Fusion Cancer (Beijing)FOCAD [9p21.3]  -  UNC13B [9p13.3]  [FUSC002372]
Fusion Cancer (Beijing)UNC13B [9p13.3]  -  FOCAD [9p21.3]  [FUSC002386]
Fusion : QuiverUNC13B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUNC13B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UNC13B
dbVarUNC13B
ClinVarUNC13B
MonarchUNC13B
1000_GenomesUNC13B 
Exome Variant ServerUNC13B
GNOMAD BrowserENSG00000198722
Varsome BrowserUNC13B
ACMGUNC13B variants
VarityO14795
Genomic Variants (DGV)UNC13B [DGVbeta]
DECIPHERUNC13B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUNC13B 
Mutations
ICGC Data PortalUNC13B 
TCGA Data PortalUNC13B 
Broad Tumor PortalUNC13B
OASIS PortalUNC13B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUNC13B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUNC13B
Mutations and Diseases : HGMDUNC13B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaUNC13B
DgiDB (Drug Gene Interaction Database)UNC13B
DoCM (Curated mutations)UNC13B
CIViC (Clinical Interpretations of Variants in Cancer)UNC13B
Cancer3DUNC13B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605836   
Orphanet
DisGeNETUNC13B
MedgenUNC13B
Genetic Testing Registry UNC13B
NextProtO14795 [Medical]
GENETestsUNC13B
Target ValidationUNC13B
Huge Navigator UNC13B [HugePedia]
ClinGenUNC13B
Clinical trials, drugs, therapy
MyCancerGenomeUNC13B
Protein Interactions : CTDUNC13B
Pharm GKB GenePA37203
PharosO14795
Clinical trialUNC13B
Miscellaneous
canSAR (ICR)UNC13B
HarmonizomeUNC13B
DataMed IndexUNC13B
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUNC13B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:37:27 CEST 2021

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