SH2B3
Sign in to saveAlso 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
- exact match
- identifiers.org/ncbigene/10019
- genomic end
- 111889427
- genomic start
- 111405923
- cytogenetic location
- 12q24.12
via Wikidata · CC0
~5 min read
Article
10 sectionsContents
- 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 ==