Homo sapiens Gene: SH2B3 | |||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 12:111405948-111451623 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q24.12 | ||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH |
KitReceptor pathway
TCR pathway
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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
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KEGG |
Neurotrophin signaling pathway pathway
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INOH | |||||||||||||||||||||||
PID NCI |
EPO signaling pathway
Signaling events mediated by Stem cell factor receptor (c-Kit)
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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 | ||||||||||||||||||||||