SH2B3
Function
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.
Involvement in disease
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Type 1 diabetes mellitus
T1D
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.
None
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Post-translational modifications
Tyrosine phosphorylated by LCK.
Sequence Similarities
Belongs to the SH2B adapter family.
Tissue Specificity
Preferentially expressed by lymphoid cell lines.
Alternative names
LNK, SH2B3, SH2B adapter protein 3, Lymphocyte adapter protein, Lymphocyte-specific adapter protein Lnk, Signal transduction protein Lnk