Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SH2D1B (SH2 domain containing 1B)

Identity

Alias_symbol (synonym)EAT2
Other alias
HGNC (Hugo) SH2D1B
LocusID (NCBI) 117157
Atlas_Id 40390
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 162365056 and ends at 162381928 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATF6 (1q23.3) / SH2D1B (1q23.3)CMPK1 (1p33) / SH2D1B (1q23.3)ATF6 1q23.3 / SH2D1B 1q23.3
CMPK1 1p33 / SH2D1B 1q23.3

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)SH2D1B   30416
Cards
Entrez_Gene (NCBI)SH2D1B  117157  SH2 domain containing 1B
AliasesEAT2
GeneCards (Weizmann)SH2D1B
Ensembl hg19 (Hinxton)ENSG00000198574 [Gene_View]  chr1:162365056-162381928 [Contig_View]  SH2D1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000198574 [Gene_View]  chr1:162365056-162381928 [Contig_View]  SH2D1B [Vega]
ICGC DataPortalENSG00000198574
TCGA cBioPortalSH2D1B
AceView (NCBI)SH2D1B
Genatlas (Paris)SH2D1B
WikiGenes117157
SOURCE (Princeton)SH2D1B
Genetics Home Reference (NIH)SH2D1B
Genomic and cartography
GoldenPath hg19 (UCSC)SH2D1B  -     chr1:162365056-162381928 -  1q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH2D1B  -     1q23.3   [Description]    (hg38-Dec_2013)
EnsemblSH2D1B - 1q23.3 [CytoView hg19]  SH2D1B - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBISH2D1B [Mapview hg19]  SH2D1B [Mapview hg38]
OMIM608510   
Gene and transcription
Genbank (Entrez)AF256653 AF403479 AF484964 AK097162 AK314743
RefSeq transcript (Entrez)NM_053282
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)SH2D1B
Cluster EST : UnigeneHs.350581 [ NCBI ]
CGAP (NCI)Hs.350581
Alternative Splicing GalleryENSG00000198574
Gene ExpressionSH2D1B [ NCBI-GEO ]   SH2D1B [ EBI - ARRAY_EXPRESS ]   SH2D1B [ SEEK ]   SH2D1B [ MEM ]
Gene Expression Viewer (FireBrowse)SH2D1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117157
GTEX Portal (Tissue expression)SH2D1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14796   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14796  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14796
Splice isoforms : SwissVarO14796
PhosPhoSitePlusO14796
Domaine pattern : Prosite (Expaxy)SH2 (PS50001)   
Domains : Interpro (EBI)SH2   
Domain families : Pfam (Sanger)SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00017   
Domain families : Smart (EMBL)SH2 (SM00252)  
Conserved Domain (NCBI)SH2D1B
DMDM Disease mutations117157
Blocks (Seattle)SH2D1B
SuperfamilyO14796
Human Protein AtlasENSG00000198574
Peptide AtlasO14796
HPRD12248
IPIIPI00023755   IPI00412110   
Protein Interaction databases
DIP (DOE-UCLA)O14796
IntAct (EBI)O14796
FunCoupENSG00000198574
BioGRIDSH2D1B
STRING (EMBL)SH2D1B
ZODIACSH2D1B
Ontologies - Pathways
QuickGOO14796
Ontology : AmiGOadaptive immune response  leukocyte activation involved in immune response  positive regulation of natural killer cell mediated immunity  protein binding  intracellular  cytosol  protein binding, bridging  innate immune response  positive regulation of innate immune response  regulation of immune response  
Ontology : EGO-EBIadaptive immune response  leukocyte activation involved in immune response  positive regulation of natural killer cell mediated immunity  protein binding  intracellular  cytosol  protein binding, bridging  innate immune response  positive regulation of innate immune response  regulation of immune response  
Pathways : KEGGNatural killer cell mediated cytotoxicity   
NDEx NetworkSH2D1B
Atlas of Cancer Signalling NetworkSH2D1B
Wikipedia pathwaysSH2D1B
Orthology - Evolution
OrthoDB117157
GeneTree (enSembl)ENSG00000198574
Phylogenetic Trees/Animal Genes : TreeFamSH2D1B
HOVERGENO14796
HOGENOMO14796
Homologs : HomoloGeneSH2D1B
Homology/Alignments : Family Browser (UCSC)SH2D1B
Gene fusions - Rearrangements
Fusion : MitelmanATF6/SH2D1B [1q23.3/1q23.3]  [t(1;1)(q23;q23)]  
Fusion : MitelmanCMPK1/SH2D1B [1p33/1q23.3]  [t(1;1)(p33;q23)]  
Fusion: TCGAATF6 1q23.3 SH2D1B 1q23.3 BRCA
Fusion: TCGACMPK1 1p33 SH2D1B 1q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH2D1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH2D1B
dbVarSH2D1B
ClinVarSH2D1B
1000_GenomesSH2D1B 
Exome Variant ServerSH2D1B
ExAC (Exome Aggregation Consortium)SH2D1B (select the gene name)
Genetic variants : HAPMAP117157
Genomic Variants (DGV)SH2D1B [DGVbeta]
DECIPHER (Syndromes)1:162365056-162381928  ENSG00000198574
CONAN: Copy Number AnalysisSH2D1B 
Mutations
ICGC Data PortalSH2D1B 
TCGA Data PortalSH2D1B 
Broad Tumor PortalSH2D1B
OASIS PortalSH2D1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH2D1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH2D1B
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 SH2D1B
DgiDB (Drug Gene Interaction Database)SH2D1B
DoCM (Curated mutations)SH2D1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH2D1B (select a term)
intoGenSH2D1B
Cancer3DSH2D1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608510   
Orphanet
MedgenSH2D1B
Genetic Testing Registry SH2D1B
NextProtO14796 [Medical]
TSGene117157
GENETestsSH2D1B
Huge Navigator SH2D1B [HugePedia]
snp3D : Map Gene to Disease117157
BioCentury BCIQSH2D1B
ClinGenSH2D1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117157
Chemical/Pharm GKB GenePA142670926
Clinical trialSH2D1B
Miscellaneous
canSAR (ICR)SH2D1B (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH2D1B
EVEXSH2D1B
GoPubMedSH2D1B
iHOPSH2D1B
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 : Tue Mar 14 13:27:06 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.