FGFR1OP2 Gene - Fibroblast Growth Factor Receptor 1 Oncogene Partner 2
Comprehensive genomic and functional analysis of FGFR1OP2, a centrosomal protein involved in cell cycle regulation and ciliogenesis.
Gene Information Card
| Symbol | FGFR1OP2 |
|---|---|
| Full Name | Fibroblast Growth Factor Receptor 1 Oncogene Partner 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.23 |
| NCBI Gene ID | 26127 ncbi.nlm.nih.gov/gene/26127 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9NVH6 |
| OMIM ID | 613149 |
| HGNC ID | 19312 |
| Aliases | HSPC123, WIT3.0, C12orf4, FLJ10656 |
Description
FGFR1OP2 (Fibroblast Growth Factor Receptor 1 Oncogene Partner 2) is a protein-coding gene located on chromosome 12p11.23. The encoded protein is a component of the centrosome and is involved in microtubule organization, cell cycle progression, and ciliogenesis. It interacts with FGFR1OP and other centrosomal proteins to maintain centrosome integrity. Dysregulation of FGFR1OP2 has been implicated in certain cancers and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | FGFR1OP2 rearrangements (e.g., with FGFR1) lead to constitutive kinase activation and leukemogenesis. | PMID: 15659713; COSMIC |
| Ciliopathy-related disorders | Loss of FGFR1OP2 function disrupts primary cilia formation, contributing to developmental defects. | PMID: 23001564; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.2 | Low |
| Lung | 5.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HeLa (cervical) | 8.7 | Medium expression |
| A549 (lung) | 6.3 | Low expression |
| HEK293 (embryonic kidney) | 7.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.02% | Unknown significance |
| FGFR1OP2-FGFR1 fusion | Gene fusion | Rare | Constitutive FGFR1 activation, oncogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein and centrosome dysfunction.
Gain of Function (GOF)
FGFR1OP2-FGFR1 fusions result in constitutive kinase activity.
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • microtubule organizing center (GO:0005815) |
| • protein binding (GO:0005515) | • cell cycle (GO:0007049) |
| • cilium assembly (GO:0060271) |
Pathways
• Centrosome maturation and duplication
• FGFR1 signaling (via fusions)
• Ciliogenesis
Protein Summary
FGFR1OP2 encodes a 317-amino acid protein (UniProt Q9NVH6) localized to the centrosome. It contains a coiled-coil domain that mediates interaction with FGFR1OP and other centrosomal components. The protein is essential for proper centrosome duplication, microtubule anchoring, and primary cilium formation. Its expression is highest in testis and bone marrow, and it is upregulated in certain leukemias where FGFR1OP2 fusions drive oncogenic signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGFR1OP2 Knockout HEK293 Cell Line | EDJ-KQ8418 | Human | 26127 | Details Get a Quote |
| FGFR1OP2 Knockout A-549 Cell Line | EDJ-KQ34506 | Human | 26127 | Details Get a Quote |
| FGFR1OP2 Knockout HCT 116 Cell Line | EDJ-KQ34507 | Human | 26127 | Details Get a Quote |
| FGFR1OP2 Knockout HeLa Cell Line | EDJ-KQ34508 | Human | 26127 | Details Get a Quote |
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