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DOC2A (double C2 domain alpha)

Identity

Alias_namesdouble C2-like domains
Other aliasDoc2
HGNC (Hugo) DOC2A
LocusID (NCBI) 8448
Atlas_Id 56480
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30016835 and ends at 30022742 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DOC2A (16p11.2) / MAPK3 (16p11.2)

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)DOC2A   2985
Cards
Entrez_Gene (NCBI)DOC2A  8448  double C2 domain alpha
AliasesDoc2
GeneCards (Weizmann)DOC2A
Ensembl hg19 (Hinxton)ENSG00000149927 [Gene_View]  chr16:30016835-30022742 [Contig_View]  DOC2A [Vega]
Ensembl hg38 (Hinxton)ENSG00000149927 [Gene_View]  chr16:30016835-30022742 [Contig_View]  DOC2A [Vega]
ICGC DataPortalENSG00000149927
TCGA cBioPortalDOC2A
AceView (NCBI)DOC2A
Genatlas (Paris)DOC2A
WikiGenes8448
SOURCE (Princeton)DOC2A
Genetics Home Reference (NIH)DOC2A
Genomic and cartography
GoldenPath hg19 (UCSC)DOC2A  -     chr16:30016835-30022742 -  16p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DOC2A  -     16p11.2   [Description]    (hg38-Dec_2013)
EnsemblDOC2A - 16p11.2 [CytoView hg19]  DOC2A - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIDOC2A [Mapview hg19]  DOC2A [Mapview hg38]
OMIM604567   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001282062 NM_001282063 NM_001282068 NM_003586
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DOC2A
Cluster EST : UnigeneHs.355281 [ NCBI ]
CGAP (NCI)Hs.355281
Alternative Splicing GalleryENSG00000149927
Gene ExpressionDOC2A [ NCBI-GEO ]   DOC2A [ EBI - ARRAY_EXPRESS ]   DOC2A [ SEEK ]   DOC2A [ MEM ]
Gene Expression Viewer (FireBrowse)DOC2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8448
GTEX Portal (Tissue expression)DOC2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14183   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14183  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14183
Splice isoforms : SwissVarQ14183
PhosPhoSitePlusQ14183
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    Doc2    Doc2a    Synaptotagmin   
Domain families : Pfam (Sanger)C2 (PF00168)   
Domain families : Pfam (NCBI)pfam00168   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)DOC2A
DMDM Disease mutations8448
Blocks (Seattle)DOC2A
PDB (SRS)4MJJ   
PDB (PDBSum)4MJJ   
PDB (IMB)4MJJ   
PDB (RSDB)4MJJ   
Structural Biology KnowledgeBase4MJJ   
SCOP (Structural Classification of Proteins)4MJJ   
CATH (Classification of proteins structures)4MJJ   
SuperfamilyQ14183
Human Protein AtlasENSG00000149927
Peptide AtlasQ14183
HPRD05195
IPIIPI00455076   
Protein Interaction databases
DIP (DOE-UCLA)Q14183
IntAct (EBI)Q14183
FunCoupENSG00000149927
BioGRIDDOC2A
STRING (EMBL)DOC2A
ZODIACDOC2A
Ontologies - Pathways
QuickGOQ14183
Ontology : AmiGOcalcium ion binding  protein binding  calcium-dependent phospholipid binding  lysosome  plasma membrane  vesicle fusion  chemical synaptic transmission  nervous system development  regulation of calcium ion-dependent exocytosis  syntaxin binding  cell junction  clathrin binding  synaptic vesicle membrane  neuron projection  calcium ion-regulated exocytosis of neurotransmitter  
Ontology : EGO-EBIcalcium ion binding  protein binding  calcium-dependent phospholipid binding  lysosome  plasma membrane  vesicle fusion  chemical synaptic transmission  nervous system development  regulation of calcium ion-dependent exocytosis  syntaxin binding  cell junction  clathrin binding  synaptic vesicle membrane  neuron projection  calcium ion-regulated exocytosis of neurotransmitter  
NDEx NetworkDOC2A
Atlas of Cancer Signalling NetworkDOC2A
Wikipedia pathwaysDOC2A
Orthology - Evolution
OrthoDB8448
GeneTree (enSembl)ENSG00000149927
Phylogenetic Trees/Animal Genes : TreeFamDOC2A
HOVERGENQ14183
HOGENOMQ14183
Homologs : HomoloGeneDOC2A
Homology/Alignments : Family Browser (UCSC)DOC2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDOC2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DOC2A
dbVarDOC2A
ClinVarDOC2A
1000_GenomesDOC2A 
Exome Variant ServerDOC2A
ExAC (Exome Aggregation Consortium)DOC2A (select the gene name)
Genetic variants : HAPMAP8448
Genomic Variants (DGV)DOC2A [DGVbeta]
DECIPHER (Syndromes)16:30016835-30022742  ENSG00000149927
CONAN: Copy Number AnalysisDOC2A 
Mutations
ICGC Data PortalDOC2A 
TCGA Data PortalDOC2A 
Broad Tumor PortalDOC2A
OASIS PortalDOC2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDOC2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDOC2A
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 DOC2A
DgiDB (Drug Gene Interaction Database)DOC2A
DoCM (Curated mutations)DOC2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DOC2A (select a term)
intoGenDOC2A
Cancer3DDOC2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604567   
Orphanet
MedgenDOC2A
Genetic Testing Registry DOC2A
NextProtQ14183 [Medical]
TSGene8448
GENETestsDOC2A
Huge Navigator DOC2A [HugePedia]
snp3D : Map Gene to Disease8448
BioCentury BCIQDOC2A
ClinGenDOC2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8448
Chemical/Pharm GKB GenePA27451
Clinical trialDOC2A
Miscellaneous
canSAR (ICR)DOC2A (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDOC2A
EVEXDOC2A
GoPubMedDOC2A
iHOPDOC2A
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 14:59:14 CEST 2017

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