Gene: GRB2

Alternate names for this Gene: ASH|EGFRBP-GRB2|Grb3-3|MST084|MSTP084|NCKAP2

Gene Summary: The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: growth factor receptor bound protein 2

Type of Gene: protein-coding

rs9901434 in GRB2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs36023980 in GRB2 gene and Lupus Erythematosus, Systemic PMID 29848360 2018 Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus.

rs4789182 in GRB2 gene and Systemic Scleroderma PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

rs2385263 in GRB2 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.