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.