SH2B3
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605093 Ensembl IDEnsembl:ENSG00000111252 HGNC IDHGNC:HGNC:29605 PHARMGKB IDPA145148124 Map Location12q24.12 | |||||
GO terms in SH2B3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0007596 | blood coagulation |
| BP | IEA | GO:0009967 | positive regulation of signal transduction |
| BP | IEA | GO:0030154 | cell differentiation |
| BP | IEA | GO:0035162 | embryonic hemopoiesis |
| BP | IBA | GO:0035556 | intracellular signal transduction |
| BP | IEA | GO:0035556 | intracellular signal transduction |
Gene expression in normal tissue: SH2B3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SH2B3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-1433557 | Signaling by SCF-KIT |
| reactome | R-HSA-1433559 | Regulation of KIT signaling |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| reactome | R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SH2B3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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