Entity Details

Primary name SH2B3
Entity type gene
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Details

PrimaryID10019
RefseqGeneNG_021216
SymbolSH2B3
NameSH2B adaptor protein 3
Chromosome12
Location12q24.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-05-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSH2B3_HUMAN

GO terms

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GOName
GO:0001780 neutrophil homeostasis
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity
GO:0005173 stem cell factor receptor binding
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007596 blood coagulation
GO:0008285 negative regulation of cell population proliferation
GO:0019221 cytokine-mediated signaling pathway
GO:0030159 signaling receptor complex adaptor activity
GO:0035162 embryonic hemopoiesis
GO:0035556 intracellular signal transduction
GO:0035702 monocyte homeostasis
GO:0035855 megakaryocyte development
GO:0036016 cellular response to interleukin-3
GO:0038163 thrombopoietin-mediated signaling pathway
GO:0042532 negative regulation of tyrosine phosphorylation of STAT protein
GO:0043407 negative regulation of MAP kinase activity
GO:0046426 negative regulation of receptor signaling pathway via JAK-STAT
GO:0048821 erythrocyte development
GO:0051898 negative regulation of protein kinase B signaling
GO:0060761 negative regulation of response to cytokine stimulus
GO:0070100 negative regulation of chemokine-mediated signaling pathway
GO:0090331 negative regulation of platelet aggregation
GO:1900235 negative regulation of Kit signaling pathway
GO:1990782 protein tyrosine kinase binding
GO:1990869 cellular response to chemokine

Diseases

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Disease IDSourceNameDescription
222100 OMIMDiabetes mellitus, insulin-dependent (IDDM)A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry.
612011 OMIMCeliac disease 13 (CELIAC13)A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. Disease susceptibility is associated with variants affecting the gene represented in this entry.