FGFR1 Chromosome 8
Fibroblast growth factor receptor 1
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What This Gene Does
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 representative 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]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|I-set domain containing"
Locus Type
gene with protein product
Location
8p11.23
Ensembl
ENSG00000077782
Associated Conditions (47)
Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Pfeiffer syndrome
Hartsfield-Bixler-Demyer syndrome
FGFR1-related disorder
7 conditions
Hypogonadotropic hypogonadism 2 with anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
FGFR1-related craniosynostosis syndrome
Mendelian syndromes with cleft lip/palate
Hypogonadotropic hypogonadism
Encephalocraniocutaneous lipomatosis
Orofacial cleft 1
Craniosynostosis
nonspecific
Nonpapillary renal cell carcinoma
Inborn genetic diseases
See cases
+27 more conditions
Key Variants
RS1014179319
Conflicting classifications of pathogenicity
Osteoglophonic dysplasia, Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia
Health Risk
RS1057518060
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Health Risk
RS1057524546
Conflicting classifications of pathogenicity
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Health Risk
RS1064793123
Conflicting classifications of pathogenicity
Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Health Risk
RS112311314
Conflicting classifications of pathogenicity
Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, FGFR1-related disorder
Health Risk
RS1131691929
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Health Risk
RS1171714073
Conflicting classifications of pathogenicity
7 conditions, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Health Risk
RS121909633
Conflicting classifications of pathogenicity
Trigonocephaly 1, 7 conditions, Pfeiffer syndrome
Health Risk
RS121909637
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
Health Risk
RS121909641
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia, 7 conditions
Health Risk
RS1246231808
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
Health Risk
RS1257312391
Conflicting classifications of pathogenicity
FGFR1-related craniosynostosis syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
Health Risk
All Variants (274)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909634 | Health Risk | Pathogenic/Likely pathogenic | Osteoglophonic dysplasia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS121909636 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Delayed puberty, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS1260404537 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS1554551657 | Health Risk | Pathogenic/Likely pathogenic | Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome |
| RS1554570706 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, FGFR1-related disorder |
| RS1554570813 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, 7 conditions |
| RS1563436265 | Health Risk | Pathogenic/Likely pathogenic | Hartsfield-Bixler-Demyer syndrome, Cerebellar vermis hypoplasia, Congenital cerebellar hypoplasia |
| RS1563626890 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS1815805060 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150754427 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS2150825999 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150826896 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS2150859908 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, 7 conditions, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS528376963 | Health Risk | Pathogenic/Likely pathogenic | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS727505370 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS727505371 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS727505373 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS727505376 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome |
| RS776264072 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, FGFR1-related disorder |
| RS876661334 | Health Risk | Pathogenic/Likely pathogenic | Semilobar holoprosencephaly, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome |
| RS121909629 | Health Risk | risk factor | Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia |
| RS1586111679 | Health Risk | risk factor | Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia |
| RS1586287678 | Health Risk | risk factor | Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia |
| RS587776835 | Health Risk | risk factor | Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia |