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UNC13D (unc-13 homolog D)

Identity

Alias_namesunc-13 homolog D (C. elegans)
Alias_symbol (synonym)Munc13-4
Other aliasFHL3
HLH3
HPLH3
HGNC (Hugo) UNC13D
LocusID (NCBI) 201294
Atlas_Id 52261
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 73823308 and ends at 73840798 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
UNC13D (17q25.1) / PAPPA (9q33.1)

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)UNC13D   23147
LRG (Locus Reference Genomic)LRG_122
Cards
Entrez_Gene (NCBI)UNC13D  201294  unc-13 homolog D
AliasesFHL3; HLH3; HPLH3; Munc13-4
GeneCards (Weizmann)UNC13D
Ensembl hg19 (Hinxton)ENSG00000092929 [Gene_View]  chr17:73823308-73840798 [Contig_View]  UNC13D [Vega]
Ensembl hg38 (Hinxton)ENSG00000092929 [Gene_View]  chr17:73823308-73840798 [Contig_View]  UNC13D [Vega]
ICGC DataPortalENSG00000092929
TCGA cBioPortalUNC13D
AceView (NCBI)UNC13D
Genatlas (Paris)UNC13D
WikiGenes201294
SOURCE (Princeton)UNC13D
Genetics Home Reference (NIH)UNC13D
Genomic and cartography
GoldenPath hg19 (UCSC)UNC13D  -     chr17:73823308-73840798 -  17q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)UNC13D  -     17q25.1   [Description]    (hg38-Dec_2013)
EnsemblUNC13D - 17q25.1 [CytoView hg19]  UNC13D - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBIUNC13D [Mapview hg19]  UNC13D [Mapview hg38]
OMIM608897   608898   
Gene and transcription
Genbank (Entrez)AJ578444 AK024474 AK300316 AK301529 AW451853
RefSeq transcript (Entrez)NM_199242
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_007266 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)UNC13D
Cluster EST : UnigeneHs.41045 [ NCBI ]
CGAP (NCI)Hs.41045
Alternative Splicing GalleryENSG00000092929
Gene ExpressionUNC13D [ NCBI-GEO ]   UNC13D [ EBI - ARRAY_EXPRESS ]   UNC13D [ SEEK ]   UNC13D [ MEM ]
Gene Expression Viewer (FireBrowse)UNC13D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)201294
GTEX Portal (Tissue expression)UNC13D
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ70J99   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ70J99  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ70J99
Splice isoforms : SwissVarQ70J99
PhosPhoSitePlusQ70J99
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    MHD1 (PS51258)    MHD2 (PS51259)   
Domains : Interpro (EBI)C2_dom    Munc13_1    Munc13_dom-2    Munc13_subgr_dom-2   
Domain families : Pfam (Sanger)C2 (PF00168)    Membr_traf_MHD (PF10540)   
Domain families : Pfam (NCBI)pfam00168    pfam10540   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)UNC13D
DMDM Disease mutations201294
Blocks (Seattle)UNC13D
SuperfamilyQ70J99
Human Protein AtlasENSG00000092929
Peptide AtlasQ70J99
HPRD10598
IPIIPI00940441   IPI00456636   IPI00456635   IPI00790059   
Protein Interaction databases
DIP (DOE-UCLA)Q70J99
IntAct (EBI)Q70J99
FunCoupENSG00000092929
BioGRIDUNC13D
STRING (EMBL)UNC13D
ZODIACUNC13D
Ontologies - Pathways
QuickGOQ70J99
Ontology : AmiGOgranuloma formation  germinal center formation  protein binding  lysosome  late endosome  phagocytosis  membrane  Rab GTPase binding  Rab GTPase binding  Weibel-Palade body  regulation of mast cell degranulation  natural killer cell degranulation  positive regulation of exocytosis  defense response to virus  recycling endosome  exocytic vesicle  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of regulated secretory pathway  
Ontology : EGO-EBIgranuloma formation  germinal center formation  protein binding  lysosome  late endosome  phagocytosis  membrane  Rab GTPase binding  Rab GTPase binding  Weibel-Palade body  regulation of mast cell degranulation  natural killer cell degranulation  positive regulation of exocytosis  defense response to virus  recycling endosome  exocytic vesicle  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of regulated secretory pathway  
NDEx NetworkUNC13D
Atlas of Cancer Signalling NetworkUNC13D
Wikipedia pathwaysUNC13D
Orthology - Evolution
OrthoDB201294
GeneTree (enSembl)ENSG00000092929
Phylogenetic Trees/Animal Genes : TreeFamUNC13D
HOVERGENQ70J99
HOGENOMQ70J99
Homologs : HomoloGeneUNC13D
Homology/Alignments : Family Browser (UCSC)UNC13D
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUNC13D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UNC13D
dbVarUNC13D
ClinVarUNC13D
1000_GenomesUNC13D 
Exome Variant ServerUNC13D
ExAC (Exome Aggregation Consortium)UNC13D (select the gene name)
Genetic variants : HAPMAP201294
Genomic Variants (DGV)UNC13D [DGVbeta]
DECIPHER (Syndromes)17:73823308-73840798  ENSG00000092929
CONAN: Copy Number AnalysisUNC13D 
Mutations
ICGC Data PortalUNC13D 
TCGA Data PortalUNC13D 
Broad Tumor PortalUNC13D
OASIS PortalUNC13D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUNC13D  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUNC13D
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch UNC13D
DgiDB (Drug Gene Interaction Database)UNC13D
DoCM (Curated mutations)UNC13D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UNC13D (select a term)
intoGenUNC13D
Cancer3DUNC13D(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608897    608898   
Orphanet282   
MedgenUNC13D
Genetic Testing Registry UNC13D
NextProtQ70J99 [Medical]
TSGene201294
GENETestsUNC13D
Huge Navigator UNC13D [HugePedia]
snp3D : Map Gene to Disease201294
BioCentury BCIQUNC13D
ClinGenUNC13D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD201294
Chemical/Pharm GKB GenePA134919958
Clinical trialUNC13D
Miscellaneous
canSAR (ICR)UNC13D (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUNC13D
EVEXUNC13D
GoPubMedUNC13D
iHOPUNC13D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:24:22 CEST 2017

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