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 |
|---|---|---|---|---|---|
| SH2B adaptor protein 3 | MIM:605093 | Ensembl:ENSG00000111252 | HGNC:HGNC:29605 | PA145148124 | 12q24.12 |
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 |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0005886 | plasma membrane |
| MF | IBA | GO:0005068 | transmembrane receptor protein tyrosine kinase adaptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0035591 | signaling adaptor activity |
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 |
| kegg | hsa04722 | Neurotrophin signaling pathway - Homo sapiens (human) |
| pid | epopathway | EPO signaling pathway |
| pid | kitpathway | Signaling events mediated by Stem cell factor receptor (c-Kit) |
| netpath | Pathway_TCR | TCR |
| wikipathways | WP3945 | TYROBP Causal Network |
| wikipathways | WP69 | T-Cell antigen Receptor (TCR) Signaling Pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD932 | JAK inhibitor | 3 |
| iGMDRD574 | Ruxolitinib | 4 |
| iGMDRD949 | mTOR inhibitor | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SH2B3
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.