SH2B3 gene

SH2B adaptor protein 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.

From NCBI Gene:

  • Familial erythrocytosis, 1
  • Myelofibrosis
  • Essential thrombocythemia

From UniProt:

Celiac 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. [MIM:612011]

Diabetes 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. [MIM:222100]

Cytogenetic Location: 12q24, which is the long (q) arm of chromosome 12 at position 24

Molecular Location: base pairs 111,405,106 to 111,451,623 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q24, which is the long (q) arm of chromosome 12 at position 24
  • IDDM20
  • LNK