FGF12 Chromosome 3
Fibroblast growth factor 12
Upload your DNA to see your personal genotypes for variants in FGF12.
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 growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]
Gene Info
Gene Group
Fibroblast growth factor family
Locus Type
gene with protein product
Location
3q28-q29
Ensembl
ENSG00000114279
Associated Conditions (6)
Inborn genetic diseases
Developmental and epileptic encephalopathy
47
Early onset epileptic encephalopathy
Seizure
FGF12-related disorder
Key Variants
RS1318037698
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142373936
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 47, Developmental and epileptic encephalopathy
Health Risk
RS200858435
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765777284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS909281332
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2473889992
Likely pathogenic
Health Risk
RS2473964114
Likely pathogenic
Developmental and epileptic encephalopathy, 47, Developmental and epileptic encephalopathy
Health Risk
RS779788156
Likely pathogenic
Health Risk
RS886039903
Pathogenic
Developmental and epileptic encephalopathy, 47, Early onset epileptic encephalopathy
Health Risk
RS1553798675
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 47, FGF12-related disorder
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1318037698 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142373936 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 47, Developmental and epileptic encephalopathy |
| RS200858435 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765777284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS909281332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2473889992 | Health Risk | Likely pathogenic | — |
| RS2473964114 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 47, Developmental and epileptic encephalopathy |
| RS779788156 | Health Risk | Likely pathogenic | — |
| RS886039903 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 47, Early onset epileptic encephalopathy |
| RS1553798675 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 47, FGF12-related disorder |