AlphaFold predicted structure
FGD1 · P98174
Mean pLDDT
64.8/ 100
Low
961 residues
Confidence breakdown
- Very high(≥ 90)29%
- Confident(70–90)22%
- Low(50–70)7%
- Very low(< 50)43%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
FGD1
Chr Xp11.22FYVE, RhoGEF and PH domain containing 1
- Aliases:
- ZFYVE3
- MANE:
- ENST00000375135.4
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesDDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIUGR and IGF abnormalities
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLimb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesMonogenic short stature
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOsteogenesis imperfecta
Disease associations (Open Targets)
Aarskog-Scott syndrome, X-linked
0.81faciodigitogenital syndrome
0.68hereditary disease
0.53neurodegenerative disease
0.46Intellectual disability
0.43Abnormality of the skeletal system
0.39X-linked intellectual disability, Siderius type
0.37Neurodevelopmental delay
0.34Polyhydramnios
0.34syndromic X-linked intellectual disability Claes-Jensen type
0.30
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
FYVE, RhoGEF and PH domain-containing protein 1
Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape