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UNC13B (unc-13 homolog B)

Identity

Alias_namesUNC13
unc-13-like (C. elegans)
unc-13 homolog B (C. elegans)
Alias_symbol (synonym)hmunc13
Unc13h2
Other aliasMUNC13
HGNC (Hugo) UNC13B
LocusID (NCBI) 10497
Atlas_Id 54755
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35161992 and ends at 35405335 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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  Lung: Translocations in Adenocarcinoma
t(2;9)(q36;p13) UNC13B/DNER
t(9;9)(p13;p23) UNC13B/PTPRD
t(9;12)(p13;q23) APAF1/UNC13B
t(X;9)(q22;p13) UNC13B/TAF7L


External links

Nomenclature
HGNC (Hugo)UNC13B   12566
Cards
Entrez_Gene (NCBI)UNC13B  10497  unc-13 homolog B
AliasesMUNC13; UNC13; Unc13h2
GeneCards (Weizmann)UNC13B
Ensembl hg19 (Hinxton)ENSG00000198722 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198722 [Gene_View]  ENSG00000198722 [Sequence]  chr9:35161992-35405335 [Contig_View]  UNC13B [Vega]
ICGC DataPortalENSG00000198722
TCGA cBioPortalUNC13B
AceView (NCBI)UNC13B
Genatlas (Paris)UNC13B
WikiGenes10497
SOURCE (Princeton)UNC13B
Genetics Home Reference (NIH)UNC13B
Genomic and cartography
GoldenPath hg38 (UCSC)UNC13B  -     chr9:35161992-35405335 +  9p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UNC13B  -     9p13.3   [Description]    (hg19-Feb_2009)
UNC13B - 9p13.3 [CytoView hg19]  UNC13B - 9p13.3 [CytoView hg38]
Mapping of homologs : NCBIUNC13B [Mapview hg19]  UNC13B [Mapview hg38]
OMIM605836   
Gene and transcription
Genbank (Entrez)AB209998 AF020202 AK296836 AW245437 BC111781
RefSeq transcript (Entrez)NM_001330653 NM_006377
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UNC13B
Cluster EST : UnigeneHs.493791 [ NCBI ]
CGAP (NCI)Hs.493791
Alternative Splicing GalleryENSG00000198722
Gene ExpressionUNC13B [ NCBI-GEO ]   UNC13B [ EBI - ARRAY_EXPRESS ]   UNC13B [ SEEK ]   UNC13B [ MEM ]
Gene Expression Viewer (FireBrowse)UNC13B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarO14795
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
DMDM Disease mutations10497
Blocks (Seattle)UNC13B
SuperfamilyO14795
Human Protein Atlas [tissue]ENSG00000198722-UNC13B [tissue]
Peptide AtlasO14795
HPRD05785
IPIIPI00478689   IPI00908653   IPI01016045   IPI00298258   
Protein Interaction databases
DIP (DOE-UCLA)O14795
IntAct (EBI)O14795
FunCoupENSG00000198722
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  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  Rab GTPase binding  diacylglycerol binding  cell junction  synaptic vesicle membrane  GTP-dependent protein binding  neuromuscular junction  negative regulation of synaptic plasticity  early phagosome  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  positive regulation of apoptotic process  terminal bouton  terminal bouton  calyx of Held  regulation of short-term neuronal synaptic plasticity  presynaptic active zone  presynaptic active zone  positive regulation of protein secretion  innervation  dense core granule priming  cellular response to glucose stimulus  phagosome maturation  positive regulation of inhibitory postsynaptic potential  ribbon synapse  hippocampal mossy fiber to CA3 synapse  presynaptic active zone cytoplasmic component  glutamatergic synapse  presynaptic dense core vesicle exocytosis  positive regulation of defense response to bacterium  
Ontology : EGO-EBIcalcium ion binding  protein binding  calmodulin binding  calmodulin binding  phospholipid binding  Golgi apparatus  cytosol  cytosol  plasma membrane  plasma membrane  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  Rab GTPase binding  diacylglycerol binding  cell junction  synaptic vesicle membrane  GTP-dependent protein binding  neuromuscular junction  negative regulation of synaptic plasticity  early phagosome  synaptic transmission, glutamatergic  intracellular signal transduction  presynaptic membrane  positive regulation of apoptotic process  terminal bouton  terminal bouton  calyx of Held  regulation of short-term neuronal synaptic plasticity  presynaptic active zone  presynaptic active zone  positive regulation of protein secretion  innervation  dense core granule priming  cellular response to glucose stimulus  phagosome maturation  positive regulation of inhibitory postsynaptic potential  ribbon synapse  hippocampal mossy fiber to CA3 synapse  presynaptic active zone cytoplasmic component  glutamatergic synapse  presynaptic dense core vesicle exocytosis  positive regulation of defense response to bacterium  
Pathways : KEGGSynaptic vesicle cycle   
NDEx NetworkUNC13B
Atlas of Cancer Signalling NetworkUNC13B
Wikipedia pathwaysUNC13B
Orthology - Evolution
OrthoDB10497
GeneTree (enSembl)ENSG00000198722
Phylogenetic Trees/Animal Genes : TreeFamUNC13B
HOGENOMO14795
Homologs : HomoloGeneUNC13B
Homology/Alignments : Family Browser (UCSC)UNC13B
Gene fusions - Rearrangements
Fusion : MitelmanAPAF1/UNC13B [12q23.1/9p13.3]  [t(9;12)(p13;q23)]  
Fusion : MitelmanUNC13B/DNER [9p13.3/2q36.3]  [t(2;9)(q36;p13)]  
Fusion : MitelmanUNC13B/PTPRD [9p13.3/9p24.1]  [t(9;9)(p13;p23)]  
Fusion : MitelmanUNC13B/TAF7L [9p13.3/Xq22.1]  [t(X;9)(q22;p13)]  
Fusion PortalUNC13B 9p13.3 DNER 2q36.3 BRCA
Fusion PortalUNC13B 9p13.3 PTPRD 9p24.1 BLCA
Fusion PortalUNC13B 9p13.3 TAF7L Xq22.1 LUAD
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
1000_GenomesUNC13B 
Exome Variant ServerUNC13B
ExAC (Exome Aggregation Consortium)ENSG00000198722
GNOMAD BrowserENSG00000198722
Varsome BrowserUNC13B
Genetic variants : HAPMAP10497
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]  
Mutations and Diseases : HGMDUNC13B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch UNC13B
DgiDB (Drug Gene Interaction Database)UNC13B
DoCM (Curated mutations)UNC13B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UNC13B (select a term)
intoGenUNC13B
Cancer3DUNC13B(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605836   
Orphanet
DisGeNETUNC13B
MedgenUNC13B
Genetic Testing Registry UNC13B
NextProtO14795 [Medical]
TSGene10497
GENETestsUNC13B
Target ValidationUNC13B
Huge Navigator UNC13B [HugePedia]
snp3D : Map Gene to Disease10497
BioCentury BCIQUNC13B
ClinGenUNC13B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10497
Chemical/Pharm GKB GenePA37203
Clinical trialUNC13B
Miscellaneous
canSAR (ICR)UNC13B (select the gene name)
DataMed IndexUNC13B
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUNC13B
EVEXUNC13B
GoPubMedUNC13B
iHOPUNC13B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu May 2 13:16:24 CEST 2019

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