FGD4

Chr 12p11.21

FYVE, RhoGEF and PH domain containing 4

Aliases:: FRABP, frabin, ZFYVE6, CMT4H
MANE:: ENST00000534526.7

OMIM: 611104 ↗NCBI: 121512 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FGD4 · Q96M96

v62025-08-01

Predicted Aligned Error matrix for FGD4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.9/ 100

Low

766 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)27%
Low(50–70)7%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Charcot-Marie-Tooth disease type 4H
0.75
Charcot-Marie-Tooth disease type 4
0.55
Charcot-Marie-Tooth disease
0.42
hereditary disease
0.42
head and neck cancer
0.32
arthropathy
0.31
Hypercholesterolemia
0.28
Charcot-Marie-Tooth disease type 4A
0.28
hypertensive disorder
0.28
Splenomegaly
0.27

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 4

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. Activates MAPK8 (By similarity)