FGD4 Chromosome 12
FYVE, RhoGEF and PH domain containing 4
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What This Gene Does
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
12p11.21
Ensembl
ENSG00000139132
Associated Conditions (5)
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases
FGD4-related disorder
Key Variants
RS118203973
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
Health Risk
RS138160928
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease
Health Risk
RS139357821
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease
Health Risk
RS140220443
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease
Health Risk
RS142609007
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H, Inborn genetic diseases
Health Risk
RS1459339879
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
Health Risk
RS147969494
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H, Inborn genetic diseases
Health Risk
RS1565921326
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H
Health Risk
RS188600194
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
Health Risk
RS199744649
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
Health Risk
RS200144770
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS200542541
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540549360 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2540687833 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2540786278 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2540869203 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS63749871 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4H |
| RS751404531 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS778377449 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS886039361 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS886041200 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H |
| RS899737461 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1393673267 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2136932206 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4 |
| RS751035912 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H |
| RS771606350 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H |