FGFR1OP2
Description
The FGFR1OP2 (FGFR1 oncogene partner 2) is a protein-coding gene located on chromosome 12.
Fibroblast growth factor receptor oncogene partner 2 (FGFR1OP2) was discovered during research on myeloproliferative syndrome (EMS). The study aimed to identify genes that partner with the fibroblast growth factor receptor 1 (FGFR1) and contribute to the syndrome. Using the 5'-RACE PCR technique, FGFR1OP2 was identified as a new gene with an unknown function.
When fused with the fibroblast growth factor receptor 1 (FGFR1), FGFR1OP2 causes myeloproliferative syndrome. The protein encoded by the FGFR1 gene belongs to the fibroblast growth factor receptor family. FGFRs typically have an extracellular ligand binding domain, a single transmembrane domain, and an intracellular tyrosine kinase domain. The extracellular domain determines which ligand the receptor will bind to and mediates ligand-induced receptor dimerization. When FGFR1OP2 fuses with FGFR1, it may show constant kinase activity.
Furthermore, FGFR1OP2 might participate in certain steps of the wound healing pathway.
The following tables compare the Homo sapiens FGFR1OP2 gene and protein to orthologs.
FGFR1OP2 is also known as HSPC123-like, WIT3.0.
Associated Diseases
- cancer
- endometrial cancer
- retinitis pigmentosa
- X-linked retinal dysplasia
- severe early-childhood-onset retinal dystrophy
- nanophthalmos 2
- nanophthalmia
- snowflake vitreoretinal degeneration
- Coats disease