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GeneQ18034959· pop 6· linked from 11 articles

Also known as IDDM20, LNK, SH2B adaptor protein 3

SH2B adapter protein 3 (SH2B3), also known as lymphocyte adapter protein (LNK), is a protein that in humans is encoded by the SH2B3 gene on chromosome 12. SH2B3 is ubiquitously expressed in many tissues and cell types. LNK functions as a regulator in signaling pathways relating to hematopoiesis, inflammation, and cell migration. As a result, it is involved in blood diseases, autoimmune disorders, and vascular disease. The SH2B3 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

Gene data

SH2B3
Name
SH2B adaptor protein 3
Type
protein-coding
Aliases
IDDM20, LNK

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].

via MyGene.info

Wikidata facts

Show 5 more facts
HomoloGene ID
36179
genomic end
111889427
genomic start
111405923
cytogenetic location
12q24.12
Sources (5)

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~5 min read

Article

10 sections
Contents
  • Structure
  • Gene
  • Protein
  • Function
  • Interactions
  • Clinical significance
  • Clinical marker
  • References
  • Further reading
  • External links

SH2B adapter protein 3 (SH2B3), also known as lymphocyte adapter protein (LNK), is a protein that in humans is encoded by the SH2B3 gene on chromosome 12. SH2B3 is ubiquitously expressed in many tissues and cell types. LNK functions as a regulator in signaling pathways relating to hematopoiesis, inflammation, and cell migration. As a result, it is involved in blood diseases, autoimmune disorders, and vascular disease. The SH2B3 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

== Structure ==

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