FGF3 Chromosome 11
Fibroblast growth factor 3
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What This Gene Does
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor ligands|Fibroblast growth factor family"
Locus Type
gene with protein product
Location
11q13.3
Ensembl
ENSG00000186895
Associated Conditions (4)
Deafness with labyrinthine aplasia
microtia
and microdontia
FGF3-related disorder
Key Variants
RS1039515359
Conflicting classifications of pathogenicity
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS1856132408
Conflicting classifications of pathogenicity
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS781923153
Conflicting classifications of pathogenicity
Health Risk
RS782324453
Conflicting classifications of pathogenicity
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS782403025
Conflicting classifications of pathogenicity
Health Risk
RS121917705
Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS2119905910
Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS782712529
Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS946999197
Likely pathogenic
Health Risk
RS121917703
Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS121917706
Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
RS1554981083
Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1039515359 | Health Risk | Conflicting classifications of pathogenicity | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS1856132408 | Health Risk | Conflicting classifications of pathogenicity | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS781923153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782324453 | Health Risk | Conflicting classifications of pathogenicity | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS782403025 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121917705 | Health Risk | Likely pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS2119905910 | Health Risk | Likely pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS782712529 | Health Risk | Likely pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS946999197 | Health Risk | Likely pathogenic | — |
| RS121917703 | Health Risk | Pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS121917706 | Health Risk | Pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS1554981083 | Health Risk | Pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS281860302 | Health Risk | Pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS281860305 | Health Risk | Pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS281860306 | Health Risk | Pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS281860307 | Health Risk | Pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS546096461 | Health Risk | Pathogenic | — |
| RS121917704 | Health Risk | Pathogenic/Likely pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS1434810965 | Health Risk | Pathogenic/Likely pathogenic | FGF3-related disorder, Deafness with labyrinthine aplasia, microtia |
| RS2119929795 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS281860303 | Health Risk | Pathogenic/Likely pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |
| RS374453035 | Health Risk | Pathogenic/Likely pathogenic | Deafness with labyrinthine aplasia, microtia, and microdontia |