Gene: GAB2

Alternate names for this Gene: -

Gene Summary: This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.1

Description of this Gene: GRB2 associated binding protein 2

Type of Gene: protein-coding

rs10899489 in GAB2 gene and Age at menarche PMID 21102462 2010 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.

PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

rs1007837 in GAB2 gene and Alzheimer's Disease PMID 17553421 2007 GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.

PMID 21460841 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

rs2512519 in GAB2 gene and Chronic Obstructive Airway Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs11237485 in GAB2 gene and Creatine kinase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2450128 in GAB2 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs4945275 in GAB2 gene and Glomerular Filtration Rate PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2292572 in GAB2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs7939352 in GAB2 gene and High density lipoprotein measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs1981405 in GAB2 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs2512519 in GAB2 gene and RESTING HEART RATE PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs2511158 in GAB2 gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs7107174 in GAB2 gene and Testicular Germ Cell Tumor PMID 26503584 2015 We identified new risk loci for TGCT at 3q23 (rs11705932, TFDP2, P=1.5 × 10(-9)), 11q14.1 (rs7107174, GAB2, P=9.7 × 10(-11)), 16p13.13 (rs4561483, GSPT1, P=1.6 × 10(-8)) and 16q24.2 (rs55637647, ZFPM1, P=3.4 × 10(-9)).

rs10793308 in GAB2 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

rs10793310 in GAB2 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.