Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGF∫ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The FAM59A gene product has been provisionally designated FAM59A pending further characterization.
Function:
Isoform 1: Acts as an adapter protein that plays a role in intracellular signaling cascades triggered either by the cell surface activated epidermal growth factor receptor and/or cytoplasmic protein tyrosine kinases. Promotes activation of the MAPK/ERK signaling pathway. Plays a role in the regulation of cell proliferation.
Subunit:
Isoform 1 interacts with EGFR. Isoform 1 interacts (via proline-rich domain and phosphorylated at Tyr-105 and Tyr-453) with GRB2 (via SH3 domains); the interaction occurs upon EGF stimulation. Isoform 1 interacts (phosphorylated at Tyr-453) with PTPN11; the interaction increases MAPK/ERK activity and does not affect the GRB2/SOS complex formation. Isoform 2 does not interact with GRB2.
Tissue Specificity:
Isoform 1 is ubiquitously expressed.
Post-translational modifications:
On EGF stimulation, phosphorylated on Tyr-105 and Tyr-453.
Similarity:
Belongs to the GAREM family.
Contains 1 SAM (sterile alpha motif) domain.
SWISS:
Q9H706
Gene ID:
64762
Database links:
Entrez Gene: 64762 Human
Entrez Gene: 381126 Mouse
SwissProt: Q9H706 Human
SwissProt: Q3UFT3 Mouse
Unigene: 444314 Human
Unigene: 312276 Mouse
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