PLEKHG5

Chr 1p36.31

pleckstrin homology and RhoGEF domain containing G5

Aliases:: KIAA0720, Syx, GEF720, Tech, ARHGEF45
MANE:: ENST00000377728.8

OMIM: 611101 ↗NCBI: 57449 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLEKHG5 · O94827

v62025-08-01

Predicted Aligned Error matrix for PLEKHG5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.6/ 100

Low

1,006 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)18%
Low(50–70)6%
Very low(< 50)46%

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
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neuronopathy, distal hereditary motor, autosomal recessive 4
0.77
Charcot-Marie-Tooth disease recessive intermediate C
0.69
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
0.64
hereditary disease
0.50
juvenile amyotrophic lateral sclerosis
0.41
neuromuscular disease
0.37
neurodegenerative disease
0.37
Charcot-Marie-Tooth disease
0.35
spinal muscular atrophy, facioscapulohumeral type
0.33
Varicose veins
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pleckstrin homology domain-containing family G member 5

Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Also affects the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631)