| 732290 | FGFR1 | fibroblast growth factor receptor 1 | The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length r epresentative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] | 8 | 38411143 | 38468635 | Human | 1343 | symbol , old_gene_name , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1348205 | FGFR1OP2 | FGFR1 oncogene partner 2 | Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025] | 12 | 26938470 | 26966648 | Human | 87 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 38657666 | LOC100335030 | FGFR1 oncogene partner 2 pseudogene | | 12 | 49389174 | 49392335 | Human | | name | gene, pseudo, PROVISIONAL [RefSeq] |
| 6481452 | FGFR1OP2P1 | FGFR1 oncogene partner 2 pseudogene 1 | | 13 | 26905488 | 26905776 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 16560875 | AC087894.1 | fibroblast growth factor receptor 1 (FGFR1) | | 12 | 127876999 | 127877516 | Human | | old_gene_name , name | gene, pseudo, INFERRED [RefSeq] |
| 16561486 | AC125611.2 | FGFR1 oncogene partner 2 (FGFR1OP2) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 1313011 | CEP43 | centrosomal protein 43 | This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been fo und in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013] | 6 | 166999397 | 167052718 | Human | 82 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1317506 | BCR | BCR activator of RhoGEF and GTPase | A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is e ncoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020] | 22 | 23180509 | 23318037 | Human | 297 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1603862 | CNPY1 | canopy FGF signaling regulator 1 | Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008] | 7 | 155501129 | 155546559 | Human | 41 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1342908 | TACC1 | transforming acidic coiled-coil containing protein 1 | This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq , Jun 2017] | 8 | 38728582 | 38853028 | Human | 165 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1317868 | ZMYM2 | zinc finger MYM-type containing 2 | The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results i n a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] | 13 | 19863840 | 20089115 | Human | 184 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606173 | CEP20 | centrosomal protein 20 | Enables identical protein binding activity. Involved in cilium assembly. Located in centriolar satellite; ciliary basal body; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 16 | 15865719 | 15888603 | Human | 69 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
