SH2B3_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
SH2B3
, LNK
Protein names and data:
SH2B3_HUMAN
, SH2B adapter protein 3
, Lymphocyte adapter protein; Lymphocyte-specific adapter protein Lnk; Signal transduction protein Lnk
Lenght: 575 a.a.
Mass: 63225 Da
fasta formatted sequence
Function:
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase (By similarity).
Disease:
( OMIM:
222100
605093
612011
)
Celiac disease 13 (CELIAC13) [MIM:612011]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue specificity:
Preferentially expressed by lymphoid cell lines.
Genetic variants
182 - 182
F -> L (in dbSNP:rs7972796). VAR_046210
7972796
262 - 262
W -> R (associated with susceptibility to CELIAC13 and IDDM; dbSNP:rs3184504). VAR_024168
3184504
Database cross-references
UniProt:
Q9UQQ2
Ensembl:
ENST00000341259
MIM:
222100
MIM:
605093
MIM:
612011
neXtProt:
NX_Q9UQQ2
Antibodypedia:
Q9UQQ2
(may not find the protein thus also not any antibody)
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