FGF10 Chromosome 5
Fibroblast growth factor 10
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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 protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor ligands|Fibroblast growth factor family"
Locus Type
gene with protein product
Location
5p12
Ensembl
ENSG00000070193
Associated Conditions (6)
Congenital absence of salivary gland
Levy-Hollister syndrome
Inborn genetic diseases
Lacrimoauriculodentodigital syndrome 3
Orofacial cleft 1
Lung adenocarcinoma
Key Variants
RS104893888
Conflicting classifications of pathogenicity
Congenital absence of salivary gland, Levy-Hollister syndrome, Inborn genetic diseases
Health Risk
RS150695565
Conflicting classifications of pathogenicity
Congenital absence of salivary gland, Lacrimoauriculodentodigital syndrome 3, Congenital absence of salivary gland
Health Risk
RS200247528
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital absence of salivary gland, Lacrimoauriculodentodigital syndrome 3
Health Risk
RS202058604
Conflicting classifications of pathogenicity
Congenital absence of salivary gland, Congenital absence of salivary gland
Health Risk
RS1554035469
Likely pathogenic
Levy-Hollister syndrome, Levy-Hollister syndrome
Health Risk
RS1554035473
Likely pathogenic
Health Risk
RS1554035757
Likely pathogenic
Levy-Hollister syndrome, Levy-Hollister syndrome
Health Risk
RS1554035763
Likely pathogenic
Levy-Hollister syndrome, Levy-Hollister syndrome
Health Risk
RS1554040360
Likely pathogenic
Health Risk
RS1554040361
Likely pathogenic
Levy-Hollister syndrome, Levy-Hollister syndrome
Health Risk
RS1554040364
Likely pathogenic
Levy-Hollister syndrome, Levy-Hollister syndrome
Health Risk
RS1554040396
Likely pathogenic
Levy-Hollister syndrome, Levy-Hollister syndrome
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893888 | Health Risk | Conflicting classifications of pathogenicity | Congenital absence of salivary gland, Levy-Hollister syndrome, Inborn genetic diseases |
| RS150695565 | Health Risk | Conflicting classifications of pathogenicity | Congenital absence of salivary gland, Lacrimoauriculodentodigital syndrome 3, Congenital absence of salivary gland |
| RS200247528 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital absence of salivary gland, Lacrimoauriculodentodigital syndrome 3 |
| RS202058604 | Health Risk | Conflicting classifications of pathogenicity | Congenital absence of salivary gland, Congenital absence of salivary gland |
| RS1554035469 | Health Risk | Likely pathogenic | Levy-Hollister syndrome, Levy-Hollister syndrome |
| RS1554035473 | Health Risk | Likely pathogenic | — |
| RS1554035757 | Health Risk | Likely pathogenic | Levy-Hollister syndrome, Levy-Hollister syndrome |
| RS1554035763 | Health Risk | Likely pathogenic | Levy-Hollister syndrome, Levy-Hollister syndrome |
| RS1554040360 | Health Risk | Likely pathogenic | — |
| RS1554040361 | Health Risk | Likely pathogenic | Levy-Hollister syndrome, Levy-Hollister syndrome |
| RS1554040364 | Health Risk | Likely pathogenic | Levy-Hollister syndrome, Levy-Hollister syndrome |
| RS1554040396 | Health Risk | Likely pathogenic | Levy-Hollister syndrome, Levy-Hollister syndrome |
| RS1740186895 | Health Risk | Likely pathogenic | Orofacial cleft 1, Orofacial cleft 1 |
| RS2478349923 | Health Risk | Likely pathogenic | Levy-Hollister syndrome, Congenital absence of salivary gland, Levy-Hollister syndrome |
| RS2478544218 | Health Risk | Likely pathogenic | Congenital absence of salivary gland, Congenital absence of salivary gland |
| RS104893885 | Health Risk | Pathogenic | Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3 |
| RS104893886 | Health Risk | Pathogenic | Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3 |
| RS104893887 | Health Risk | Pathogenic | Congenital absence of salivary gland, Lacrimoauriculodentodigital syndrome 3, Congenital absence of salivary gland |
| RS104893889 | Health Risk | Pathogenic | Congenital absence of salivary gland, Congenital absence of salivary gland |
| RS1446723373 | Health Risk | Pathogenic | Levy-Hollister syndrome, Levy-Hollister syndrome |
| RS1561223826 | Health Risk | Pathogenic | — |
| RS2111939767 | Health Risk | Pathogenic | — |
| RS2478542924 | Health Risk | Pathogenic | Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3 |
| RS2478542933 | Health Risk | Pathogenic | Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3 |
| RS768184879 | Health Risk | Pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS104893884 | Health Risk | Pathogenic/Likely pathogenic | Congenital absence of salivary gland, Congenital absence of salivary gland |