Gene: SH2B3

Alternate names for this Gene: IDDM20|LNK

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.12

Description of this Gene: SH2B adaptor protein 3

Type of Gene: protein-coding

rs7310615 in SH2B3 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7310615 in SH2B3 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7310615 in SH2B3 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7310615 in SH2B3 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs11065898 in SH2B3 gene and Ankylosing spondylitis PMID 23749187 2013 Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

rs7310615 in SH2B3 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11065898 in SH2B3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs7310615 in SH2B3 gene and Diastolic blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs7310615 in SH2B3 gene and Fibrinogen assay PMID 26561523 2016 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

rs3803170 in SH2B3 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7310615 in SH2B3 gene and High density lipoprotein measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs7310615 in SH2B3 gene and Low density lipoprotein cholesterol measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs7310615 in SH2B3 gene and Mean blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs540639423 in SH2B3 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs540639423 in SH2B3 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7310615 in SH2B3 gene and Systolic Pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs7310615 in SH2B3 gene and Systolic blood pressure measurement PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.