Homo sapiens Gene: SH2B3
Summary
InnateDB Gene IDBG-57458.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SH2B3
Gene Name SH2B adaptor protein 3
Synonyms IDDM20; LNK
Species Homo sapiens
Ensembl Gene ENSG00000111252
Encoded Proteins
SH2B adaptor protein 3
SH2B adaptor protein 3
SH2B adaptor protein 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus.[provided by RefSeq, May 2010]
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:111405948-111451623
Strand Forward strand
Band q24.12
Transcripts
ENST00000341259 ENSP00000345492
ENST00000550925 ENSP00000473529
ENST00000538307 ENSP00000440597
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0032403 protein complex binding
GO:0042301 phosphate ion binding
Biological Process
GO:0007596 blood coagulation
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0035162 embryonic hemopoiesis
GO:0035556 intracellular signal transduction
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
KitReceptor pathway
TCR pathway
REACTOME
Factors involved in megakaryocyte development and platelet production pathway
Regulation of KIT signaling pathway
Signaling by SCF-KIT pathway
Signal Transduction pathway
Hemostasis pathway
KEGG
Neurotrophin signaling pathway pathway
INOH
PID NCI
EPO signaling pathway
Signaling events mediated by Stem cell factor receptor (c-Kit)
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 10019
UniGene
RefSeq NM_001291424 NM_005475 XM_005253819
HUGO HGNC:29605
OMIM 605093
CCDS CCDS9153
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 10019