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SH2B3 (SH2B adaptor protein 3)

Identity

Alias_symbol (synonym)LNK
IDDM20
Other alias
HGNC (Hugo) SH2B3
LocusID (NCBI) 10019
Atlas_Id 51692
Location 12q24.12  [Link to chromosome band 12q24]
Location_base_pair Starts at 111872666 and ends at 111889427 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SH2B3 (12q24.12) / ATXN2 (12q24.12)SH2B3 (12q24.12) / PPFIA3 (19q13.33)SH2B3 (12q24.12) / TRIOBP (22q13.1)

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)SH2B3   29605
LRG (Locus Reference Genomic)LRG_621
Cards
Entrez_Gene (NCBI)SH2B3  10019  SH2B adaptor protein 3
AliasesIDDM20; LNK
GeneCards (Weizmann)SH2B3
Ensembl hg19 (Hinxton)ENSG00000111252 [Gene_View]  chr12:111872666-111889427 [Contig_View]  SH2B3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000111252 [Gene_View]  chr12:111872666-111889427 [Contig_View]  SH2B3 [Vega]
ICGC DataPortalENSG00000111252
TCGA cBioPortalSH2B3
AceView (NCBI)SH2B3
Genatlas (Paris)SH2B3
WikiGenes10019
SOURCE (Princeton)SH2B3
Genetics Home Reference (NIH)SH2B3
Genomic and cartography
GoldenPath hg19 (UCSC)SH2B3  -     chr12:111872666-111889427 +  12q24.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH2B3  -     12q24.12   [Description]    (hg38-Dec_2013)
EnsemblSH2B3 - 12q24.12 [CytoView hg19]  SH2B3 - 12q24.12 [CytoView hg38]
Mapping of homologs : NCBISH2B3 [Mapview hg19]  SH2B3 [Mapview hg38]
OMIM133100   187950   254450   605093   
Gene and transcription
Genbank (Entrez)AB208911 AF055581 AJ012793 AK025666 AK025745
RefSeq transcript (Entrez)NM_001291424 NM_005475
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_021216 NT_029419 NW_004929385
Consensus coding sequences : CCDS (NCBI)SH2B3
Cluster EST : UnigeneHs.506784 [ NCBI ]
CGAP (NCI)Hs.506784
Alternative Splicing GalleryENSG00000111252
Gene ExpressionSH2B3 [ NCBI-GEO ]   SH2B3 [ EBI - ARRAY_EXPRESS ]   SH2B3 [ SEEK ]   SH2B3 [ MEM ]
Gene Expression Viewer (FireBrowse)SH2B3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10019
GTEX Portal (Tissue expression)SH2B3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQQ2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UQQ2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UQQ2
Splice isoforms : SwissVarQ9UQQ2
PhosPhoSitePlusQ9UQQ2
Domaine pattern : Prosite (Expaxy)SH2 (PS50001)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Phe_ZIP    SH2    SH2B    SH2B3   
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)SH2B3
DMDM Disease mutations10019
Blocks (Seattle)SH2B3
SuperfamilyQ9UQQ2
Human Protein AtlasENSG00000111252
Peptide AtlasQ9UQQ2
HPRD05480
IPIIPI00010821   IPI00795891   IPI00386336   IPI01021315   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQQ2
IntAct (EBI)Q9UQQ2
FunCoupENSG00000111252
BioGRIDSH2B3
STRING (EMBL)SH2B3
ZODIACSH2B3
Ontologies - Pathways
QuickGOQ9UQQ2
Ontology : AmiGOsignal transducer activity  protein binding  cytosol  blood coagulation  positive regulation of signal transduction  cell differentiation  embryonic hemopoiesis  intracellular signal transduction  signaling adaptor activity  
Ontology : EGO-EBIsignal transducer activity  protein binding  cytosol  blood coagulation  positive regulation of signal transduction  cell differentiation  embryonic hemopoiesis  intracellular signal transduction  signaling adaptor activity  
Pathways : KEGGNeurotrophin signaling pathway   
NDEx NetworkSH2B3
Atlas of Cancer Signalling NetworkSH2B3
Wikipedia pathwaysSH2B3
Orthology - Evolution
OrthoDB10019
GeneTree (enSembl)ENSG00000111252
Phylogenetic Trees/Animal Genes : TreeFamSH2B3
HOVERGENQ9UQQ2
HOGENOMQ9UQQ2
Homologs : HomoloGeneSH2B3
Homology/Alignments : Family Browser (UCSC)SH2B3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH2B3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH2B3
dbVarSH2B3
ClinVarSH2B3
1000_GenomesSH2B3 
Exome Variant ServerSH2B3
ExAC (Exome Aggregation Consortium)SH2B3 (select the gene name)
Genetic variants : HAPMAP10019
Genomic Variants (DGV)SH2B3 [DGVbeta]
DECIPHER (Syndromes)12:111872666-111889427  ENSG00000111252
CONAN: Copy Number AnalysisSH2B3 
Mutations
ICGC Data PortalSH2B3 
TCGA Data PortalSH2B3 
Broad Tumor PortalSH2B3
OASIS PortalSH2B3 [ Somatic mutations - Copy number]
Cancer Gene: CensusSH2B3 
Somatic Mutations in Cancer : COSMICSH2B3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH2B3
intOGen PortalSH2B3
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 SH2B3
DgiDB (Drug Gene Interaction Database)SH2B3
DoCM (Curated mutations)SH2B3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH2B3 (select a term)
intoGenSH2B3
Cancer3DSH2B3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133100    187950    254450    605093   
Orphanet3599    22611   
MedgenSH2B3
Genetic Testing Registry SH2B3
NextProtQ9UQQ2 [Medical]
TSGene10019
GENETestsSH2B3
Huge Navigator SH2B3 [HugePedia]
snp3D : Map Gene to Disease10019
BioCentury BCIQSH2B3
ClinGenSH2B3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10019
Chemical/Pharm GKB GenePA145148124
Clinical trialSH2B3
Miscellaneous
canSAR (ICR)SH2B3 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH2B3
EVEXSH2B3
GoPubMedSH2B3
iHOPSH2B3
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 15:19:09 CEST 2017

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