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SH2B1 (SH2B adaptor protein 1)

Identity

Alias_symbol (synonym)FLJ30542
SH2B
Other aliasPSM
HGNC (Hugo) SH2B1
LocusID (NCBI) 25970
Atlas_Id 50281
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 28863757 and ends at 28874213 bp from pter ( according to hg38-Dec_2013)

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)SH2B1   30417
Cards
Entrez_Gene (NCBI)SH2B1  25970  SH2B adaptor protein 1
AliasesPSM; SH2B
GeneCards (Weizmann)SH2B1
Ensembl hg19 (Hinxton)ENSG00000178188 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178188 [Gene_View]  chr16:28863757-28874213 [Contig_View]  SH2B1 [Vega]
ICGC DataPortalENSG00000178188
TCGA cBioPortalSH2B1
AceView (NCBI)SH2B1
Genatlas (Paris)SH2B1
WikiGenes25970
SOURCE (Princeton)SH2B1
Genetics Home Reference (NIH)SH2B1
Genomic and cartography
GoldenPath hg38 (UCSC)SH2B1  -     chr16:28863757-28874213 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH2B1  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblSH2B1 - 16p11.2 [CytoView hg19]  SH2B1 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBISH2B1 [Mapview hg19]  SH2B1 [Mapview hg38]
OMIM608937   
Gene and transcription
Genbank (Entrez)AB037720 AF227967 AF227968 AF227969 AK027488
RefSeq transcript (Entrez)NM_001145795 NM_001145796 NM_001145797 NM_001145812 NM_001308293 NM_001308294 NM_015503
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH2B1
Cluster EST : UnigeneHs.15744 [ NCBI ]
CGAP (NCI)Hs.15744
Alternative Splicing GalleryENSG00000178188
Gene ExpressionSH2B1 [ NCBI-GEO ]   SH2B1 [ EBI - ARRAY_EXPRESS ]   SH2B1 [ SEEK ]   SH2B1 [ MEM ]
Gene Expression Viewer (FireBrowse)SH2B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25970
GTEX Portal (Tissue expression)SH2B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRF2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRF2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRF2
Splice isoforms : SwissVarQ9NRF2
PhosPhoSitePlusQ9NRF2
Domaine pattern : Prosite (Expaxy)SH2 (PS50001)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Phe_ZIP    SH2    SH2B    SH2B1   
Domain families : Pfam (Sanger)PH (PF00169)    Phe_ZIP (PF08916)    SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00169    pfam08916    pfam00017   
Domain families : Smart (EMBL)PH (SM00233)  SH2 (SM00252)  
Conserved Domain (NCBI)SH2B1
DMDM Disease mutations25970
Blocks (Seattle)SH2B1
SuperfamilyQ9NRF2
Human Protein AtlasENSG00000178188
Peptide AtlasQ9NRF2
HPRD12336
IPIIPI00016441   IPI00292988   IPI00385535   IPI01011413   IPI01011022   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRF2
IntAct (EBI)Q9NRF2
FunCoupENSG00000178188
BioGRIDSH2B1
STRING (EMBL)SH2B1
ZODIACSH2B1
Ontologies - Pathways
QuickGOQ9NRF2
Ontology : AmiGOsignal transducer activity  protein binding  nucleus  cytosol  blood coagulation  positive regulation of signal transduction  membrane  lamellipodium assembly  intracellular signal transduction  signaling adaptor activity  positive regulation of mitotic nuclear division  regulation of DNA biosynthetic process  
Ontology : EGO-EBIsignal transducer activity  protein binding  nucleus  cytosol  blood coagulation  positive regulation of signal transduction  membrane  lamellipodium assembly  intracellular signal transduction  signaling adaptor activity  positive regulation of mitotic nuclear division  regulation of DNA biosynthetic process  
Pathways : KEGGNeurotrophin signaling pathway   
NDEx NetworkSH2B1
Atlas of Cancer Signalling NetworkSH2B1
Wikipedia pathwaysSH2B1
Orthology - Evolution
OrthoDB25970
GeneTree (enSembl)ENSG00000178188
Phylogenetic Trees/Animal Genes : TreeFamSH2B1
HOVERGENQ9NRF2
HOGENOMQ9NRF2
Homologs : HomoloGeneSH2B1
Homology/Alignments : Family Browser (UCSC)SH2B1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH2B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH2B1
dbVarSH2B1
ClinVarSH2B1
1000_GenomesSH2B1 
Exome Variant ServerSH2B1
ExAC (Exome Aggregation Consortium)SH2B1 (select the gene name)
Genetic variants : HAPMAP25970
Genomic Variants (DGV)SH2B1 [DGVbeta]
DECIPHERSH2B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH2B1 
Mutations
ICGC Data PortalSH2B1 
TCGA Data PortalSH2B1 
Broad Tumor PortalSH2B1
OASIS PortalSH2B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH2B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH2B1
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 SH2B1
DgiDB (Drug Gene Interaction Database)SH2B1
DoCM (Curated mutations)SH2B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH2B1 (select a term)
intoGenSH2B1
Cancer3DSH2B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608937   
Orphanet19860    19857    21916   
MedgenSH2B1
Genetic Testing Registry SH2B1
NextProtQ9NRF2 [Medical]
TSGene25970
GENETestsSH2B1
Target ValidationSH2B1
Huge Navigator SH2B1 [HugePedia]
snp3D : Map Gene to Disease25970
BioCentury BCIQSH2B1
ClinGenSH2B1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25970
Chemical/Pharm GKB GenePA145148084
Clinical trialSH2B1
Miscellaneous
canSAR (ICR)SH2B1 (select the gene name)
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH2B1
EVEXSH2B1
GoPubMedSH2B1
iHOPSH2B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:14:22 CEST 2017

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