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SH2B3 SH2B adaptor protein 3

Gene ID: 10019, updated on 11-Apr-2024
Gene type: protein coding
Also known as: LNK; IDDM20

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
GeneReviews: Not available
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
GeneReviews: Not available
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
GeneReviews: Not available
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
GeneReviews: Not available
Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
GeneReviews: Not available
Genome-wide association study identifies eight loci associated with blood pressure.
GeneReviews: Not available
Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.
GeneReviews: Not available
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
GeneReviews: Not available
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
GeneReviews: Not available
Genome-wide association study of blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
Newly identified genetic risk variants for celiac disease related to the immune response.
GeneReviews: Not available
Novel associations for hypothyroidism include known autoimmune risk loci.
GeneReviews: Not available
Primary familial polycythemia due to EPO receptor mutationSee labs
Primary myelofibrosis
MedGen: C0001815OMIM: 254450GeneReviews: Not available
See labs
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
GeneReviews: Not available
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.
GeneReviews: Not available
Thrombocythemia 1
MedGen: C3277671OMIM: 187950GeneReviews: Not available
See labs

Genomic context

Location:
12q24.12
Sequence:
Chromosome: 12; NC_000012.12 (111404730..111451623)
Total number of exons:
13

Links

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