PLEKHG2

Chr 19q13.2

pleckstrin homology and RhoGEF domain containing G2

Aliases:: CLG, FLJ00018, ARHGEF42
MANE:: ENST00000425673.6

OMIM: 611893 ↗NCBI: 64857 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLEKHG2 · Q9H7P9

v62025-08-01

Predicted Aligned Error matrix for PLEKHG2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

47.3/ 100

Very low

1,386 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)7%
Low(50–70)7%
Very low(< 50)72%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

leukodystrophy and acquired microcephaly with or without dystonia;
0.69
Abnormal brain morphology
0.27
microcephaly
0.11
non-small cell lung carcinoma
0.07
Platelet-activating factor acetylhydrolase deficiency
0.04
fever of unknown origin
0.04
neoplasm
0.04
glioblastoma
0.02
Dystonia
0.01
cancer
0.01

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 2

May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) (PubMed:18045877). Involved in the regulation of actin polymerization (PubMed:26573021)