GRB2
LOCUS ID2885
GENE_SYMBOLGRB2
GENE NAMEgrowth factor receptor bound protein 2
SYNONYMNSASH, Grb3-3, MST084, NCKAP2, MSTP084, EGFRBP-GRB2
CHROMOSOME17
HOMOLOGENE ID1576
microRNAsNANA
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 altertively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Genetic variation near GRB2 on chromosome 17q25.1 is associated with sight-threatening diabetic retinopathy.26188370