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SH2D3A (SH2 domain containing 3A)

Identity

Alias_namesSH2 domain-containing 3A
Alias_symbol (synonym)NSP1
Other alias
HGNC (Hugo) SH2D3A
LocusID (NCBI) 10045
Atlas_Id 43490
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 6752162 and ends at 6767512 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NDUFA7 (19p13.2) / SH2D3A (19p13.3)NDUFA7 19p13.2 / SH2D3A 19p13.3

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)SH2D3A   16885
Cards
Entrez_Gene (NCBI)SH2D3A  10045  SH2 domain containing 3A
AliasesNSP1
GeneCards (Weizmann)SH2D3A
Ensembl hg19 (Hinxton)ENSG00000125731 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125731 [Gene_View]  chr19:6752162-6767512 [Contig_View]  SH2D3A [Vega]
ICGC DataPortalENSG00000125731
TCGA cBioPortalSH2D3A
AceView (NCBI)SH2D3A
Genatlas (Paris)SH2D3A
WikiGenes10045
SOURCE (Princeton)SH2D3A
Genetics Home Reference (NIH)SH2D3A
Genomic and cartography
GoldenPath hg38 (UCSC)SH2D3A  -     chr19:6752162-6767512 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH2D3A  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblSH2D3A - 19p13.3 [CytoView hg19]  SH2D3A - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBISH2D3A [Mapview hg19]  SH2D3A [Mapview hg38]
OMIM604721   
Gene and transcription
Genbank (Entrez)AF124249 AK024368 AK225386 AK290293 AK292781
RefSeq transcript (Entrez)NM_005490
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH2D3A
Cluster EST : UnigeneHs.439645 [ NCBI ]
CGAP (NCI)Hs.439645
Alternative Splicing GalleryENSG00000125731
Gene ExpressionSH2D3A [ NCBI-GEO ]   SH2D3A [ EBI - ARRAY_EXPRESS ]   SH2D3A [ SEEK ]   SH2D3A [ MEM ]
Gene Expression Viewer (FireBrowse)SH2D3A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10045
GTEX Portal (Tissue expression)SH2D3A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BRG2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BRG2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BRG2
Splice isoforms : SwissVarQ9BRG2
PhosPhoSitePlusQ9BRG2
Domaine pattern : Prosite (Expaxy)SH2 (PS50001)   
Domains : Interpro (EBI)Ras_GEF_dom    RASGEF_cat_dom    SH2   
Domain families : Pfam (Sanger)SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00017   
Domain families : Smart (EMBL)RasGEF (SM00147)  SH2 (SM00252)  
Conserved Domain (NCBI)SH2D3A
DMDM Disease mutations10045
Blocks (Seattle)SH2D3A
SuperfamilyQ9BRG2
Human Protein AtlasENSG00000125731
Peptide AtlasQ9BRG2
HPRD05283
IPIIPI00305020   IPI00910177   
Protein Interaction databases
DIP (DOE-UCLA)Q9BRG2
IntAct (EBI)Q9BRG2
FunCoupENSG00000125731
BioGRIDSH2D3A
STRING (EMBL)SH2D3A
ZODIACSH2D3A
Ontologies - Pathways
QuickGOQ9BRG2
Ontology : AmiGOSH3/SH2 adaptor activity  guanyl-nucleotide exchange factor activity  protein binding  intracellular  JNK cascade  small GTPase mediated signal transduction  positive regulation of signal transduction  positive regulation of GTPase activity  
Ontology : EGO-EBISH3/SH2 adaptor activity  guanyl-nucleotide exchange factor activity  protein binding  intracellular  JNK cascade  small GTPase mediated signal transduction  positive regulation of signal transduction  positive regulation of GTPase activity  
NDEx NetworkSH2D3A
Atlas of Cancer Signalling NetworkSH2D3A
Wikipedia pathwaysSH2D3A
Orthology - Evolution
OrthoDB10045
GeneTree (enSembl)ENSG00000125731
Phylogenetic Trees/Animal Genes : TreeFamSH2D3A
HOVERGENQ9BRG2
HOGENOMQ9BRG2
Homologs : HomoloGeneSH2D3A
Homology/Alignments : Family Browser (UCSC)SH2D3A
Gene fusions - Rearrangements
Fusion : MitelmanNDUFA7/SH2D3A [19p13.2/19p13.3]  [t(19;19)(p13;p13)]  
Fusion: TCGANDUFA7 19p13.2 SH2D3A 19p13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH2D3A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH2D3A
dbVarSH2D3A
ClinVarSH2D3A
1000_GenomesSH2D3A 
Exome Variant ServerSH2D3A
ExAC (Exome Aggregation Consortium)SH2D3A (select the gene name)
Genetic variants : HAPMAP10045
Genomic Variants (DGV)SH2D3A [DGVbeta]
DECIPHERSH2D3A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH2D3A 
Mutations
ICGC Data PortalSH2D3A 
TCGA Data PortalSH2D3A 
Broad Tumor PortalSH2D3A
OASIS PortalSH2D3A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH2D3A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH2D3A
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 SH2D3A
DgiDB (Drug Gene Interaction Database)SH2D3A
DoCM (Curated mutations)SH2D3A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH2D3A (select a term)
intoGenSH2D3A
Cancer3DSH2D3A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604721   
Orphanet
MedgenSH2D3A
Genetic Testing Registry SH2D3A
NextProtQ9BRG2 [Medical]
TSGene10045
GENETestsSH2D3A
Huge Navigator SH2D3A [HugePedia]
snp3D : Map Gene to Disease10045
BioCentury BCIQSH2D3A
ClinGenSH2D3A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10045
Chemical/Pharm GKB GenePA38192
Clinical trialSH2D3A
Miscellaneous
canSAR (ICR)SH2D3A (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH2D3A
EVEXSH2D3A
GoPubMedSH2D3A
iHOPSH2D3A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:37:02 CEST 2017

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