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GRB2 |
LOCUS ID | 2885 | ||||||||||
GENE_SYMBOL | GRB2 | ||||||||||
GENE NAME | growth factor recept | ||||||||||
SYNONYMNS | ASH, Grb3-3, MST084, NCKAP2, MSTP084, EGFRBP-GRB2 | ||||||||||
CHROMOSOME | 17 | ||||||||||
HOMOLOGENE ID | 1576 |
microRNAs | NA | NA |
GENE SUMMARY |
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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 Ref |
OBSERVATIONS |
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Complication | Evidence | PMID |
Retinopathy | 1. Genetic variation near GRB2 on chromosome 17q25.1 is associated with sight-threatening diabetic retinopathy. | 26188370 |