Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SH2D1A (SH2 domain containing 1A)

Identity

Alias_namesIMD5
LYP
lymphoproliferative syndrome
SH2 domain protein 1A
Alias_symbol (synonym)XLP
MTCP1
DSHP
XLPD
EBVS
SAP
Other aliasSAP/SH2D1A
XLPD1
HGNC (Hugo) SH2D1A
LocusID (NCBI) 4068
Atlas_Id 42282
Location Xq25  [Link to chromosome band Xq25]
Location_base_pair Starts at 124346282 and ends at 124373161 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)
SH2D1A (Xq25) / TRA ()TRA () / SH2D1A (Xq25)

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  X-linked lymphoproliferative disease (XLP)

External links

Nomenclature
HGNC (Hugo)SH2D1A   10820
LRG (Locus Reference Genomic)LRG_106
Cards
Entrez_Gene (NCBI)SH2D1A  4068  SH2 domain containing 1A
AliasesDSHP; EBVS; IMD5; LYP; 
MTCP1; SAP; SAP/SH2D1A; XLP; XLPD; XLPD1
GeneCards (Weizmann)SH2D1A
Ensembl hg19 (Hinxton)ENSG00000183918 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183918 [Gene_View]  ENSG00000183918 [Sequence]  chrX:124346282-124373161 [Contig_View]  SH2D1A [Vega]
ICGC DataPortalENSG00000183918
TCGA cBioPortalSH2D1A
AceView (NCBI)SH2D1A
Genatlas (Paris)SH2D1A
WikiGenes4068
SOURCE (Princeton)SH2D1A
Genetics Home Reference (NIH)SH2D1A
Genomic and cartography
GoldenPath hg38 (UCSC)SH2D1A  -     chrX:124346282-124373161 +  Xq25   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH2D1A  -     Xq25   [Description]    (hg19-Feb_2009)
GoldenPathSH2D1A - Xq25 [CytoView hg19]  SH2D1A - Xq25 [CytoView hg38]
ImmunoBaseENSG00000183918
Mapping of homologs : NCBISH2D1A [Mapview hg19]  SH2D1A [Mapview hg38]
OMIM300490   308240   
Gene and transcription
Genbank (Entrez)AA190204 AB586694 AF072930 AF073019 AF100539
RefSeq transcript (Entrez)NM_001114937 NM_002351
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH2D1A
Cluster EST : UnigeneHs.349094 [ NCBI ]
CGAP (NCI)Hs.349094
Alternative Splicing GalleryENSG00000183918
Gene ExpressionSH2D1A [ NCBI-GEO ]   SH2D1A [ EBI - ARRAY_EXPRESS ]   SH2D1A [ SEEK ]   SH2D1A [ MEM ]
Gene Expression Viewer (FireBrowse)SH2D1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4068
GTEX Portal (Tissue expression)SH2D1A
Human Protein AtlasENSG00000183918-SH2D1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60880   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60880  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60880
Splice isoforms : SwissVarO60880
PhosPhoSitePlusO60880
Domaine pattern : Prosite (Expaxy)SH2 (PS50001)   
Domains : Interpro (EBI)SH2    SH2_dom_sf    SH2_prot_1A    SH2D1A_SH2   
Domain families : Pfam (Sanger)SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00017   
Domain families : Smart (EMBL)SH2 (SM00252)  
Conserved Domain (NCBI)SH2D1A
DMDM Disease mutations4068
Blocks (Seattle)SH2D1A
PDB (RSDB)1D1Z    1D4T    1D4W    1KA6    1KA7    1M27   
PDB Europe1D1Z    1D4T    1D4W    1KA6    1KA7    1M27   
PDB (PDBSum)1D1Z    1D4T    1D4W    1KA6    1KA7    1M27   
PDB (IMB)1D1Z    1D4T    1D4W    1KA6    1KA7    1M27   
Structural Biology KnowledgeBase1D1Z    1D4T    1D4W    1KA6    1KA7    1M27   
SCOP (Structural Classification of Proteins)1D1Z    1D4T    1D4W    1KA6    1KA7    1M27   
CATH (Classification of proteins structures)1D1Z    1D4T    1D4W    1KA6    1KA7    1M27   
SuperfamilyO60880
Human Protein Atlas [tissue]ENSG00000183918-SH2D1A [tissue]
Peptide AtlasO60880
HPRD02390
IPIIPI00032401   IPI00216635   IPI00216636   IPI00216637   IPI00873008   IPI00216639   IPI00876880   
Protein Interaction databases
DIP (DOE-UCLA)O60880
IntAct (EBI)O60880
FunCoupENSG00000183918
BioGRIDSH2D1A
STRING (EMBL)SH2D1A
ZODIACSH2D1A
Ontologies - Pathways
QuickGOO60880
Ontology : AmiGOadaptive immune response  SH3/SH2 adaptor activity  protein binding  cytoplasm  cytosol  humoral immune response  cellular defense response  cell-cell signaling  positive regulation of signal transduction  innate immune response  positive regulation of natural killer cell mediated cytotoxicity  regulation of immune response  
Ontology : EGO-EBIadaptive immune response  SH3/SH2 adaptor activity  protein binding  cytoplasm  cytosol  humoral immune response  cellular defense response  cell-cell signaling  positive regulation of signal transduction  innate immune response  positive regulation of natural killer cell mediated cytotoxicity  regulation of immune response  
Pathways : KEGGNatural killer cell mediated cytotoxicity    Measles   
NDEx NetworkSH2D1A
Atlas of Cancer Signalling NetworkSH2D1A
Wikipedia pathwaysSH2D1A
Orthology - Evolution
OrthoDB4068
GeneTree (enSembl)ENSG00000183918
Phylogenetic Trees/Animal Genes : TreeFamSH2D1A
HOGENOMO60880
Homologs : HomoloGeneSH2D1A
Homology/Alignments : Family Browser (UCSC)SH2D1A
Gene fusions - Rearrangements
Fusion : QuiverSH2D1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH2D1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH2D1A
dbVarSH2D1A
ClinVarSH2D1A
1000_GenomesSH2D1A 
Exome Variant ServerSH2D1A
ExAC (Exome Aggregation Consortium)ENSG00000183918
GNOMAD BrowserENSG00000183918
Varsome BrowserSH2D1A
Genetic variants : HAPMAP4068
Genomic Variants (DGV)SH2D1A [DGVbeta]
DECIPHERSH2D1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH2D1A 
Mutations
ICGC Data PortalSH2D1A 
TCGA Data PortalSH2D1A 
Broad Tumor PortalSH2D1A
OASIS PortalSH2D1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH2D1A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSH2D1A
Mutations and Diseases : HGMDSH2D1A
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 SH2D1A
DgiDB (Drug Gene Interaction Database)SH2D1A
DoCM (Curated mutations)SH2D1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH2D1A (select a term)
intoGenSH2D1A
Cancer3DSH2D1A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300490    308240   
Orphanet275   
DisGeNETSH2D1A
MedgenSH2D1A
Genetic Testing Registry SH2D1A
NextProtO60880 [Medical]
TSGene4068
GENETestsSH2D1A
Target ValidationSH2D1A
Huge Navigator SH2D1A [HugePedia]
snp3D : Map Gene to Disease4068
BioCentury BCIQSH2D1A
ClinGenSH2D1A (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4068
Chemical/Pharm GKB GenePA35728
Clinical trialSH2D1A
Miscellaneous
canSAR (ICR)SH2D1A (select the gene name)
DataMed IndexSH2D1A
Probes
Litterature
PubMed130 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH2D1A
EVEXSH2D1A
GoPubMedSH2D1A
iHOPSH2D1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:07:14 CET 2019
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