SH2B3 SH2B adaptor protein 3
Gene ID: 10019, updated on 28-Oct-2024Gene type: protein coding
Also known as: LNK; IDDM20
- See all available tests in GTR for this gene
- Go to complete Gene record for SH2B3
- Go to Variation Viewer for SH2B3 variants
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
| Description | Tests |
|---|---|
| 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 mutation | See labs |
| Primary myelofibrosis | 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 | See labs |
Genomic context
- Location:
- 12q24.12
- Sequence:
- Chromosome: 12; NC_000012.12 (111404730..111451623)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SH2B3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SH2B3 database
- Variation ViewerRelated Variants
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