SGSM3

Chr 22q13.1

small G protein signaling modulator 3

Aliases:: DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5
MANE:: ENST00000248929.14

OMIM: 610440 ↗NCBI: 27352 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SGSM3 · Q96HU1

v62025-08-01

Predicted Aligned Error matrix for SGSM3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

749 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)29%
Low(50–70)11%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nervous system benign neoplasm
0.32
smoking initiation
0.30
Uterine leiomyoma
0.28
hypertrophic cardiomyopathy
0.25
thyroid gland disorder
0.23
Intellectual disability
0.19
neurodevelopmental disorder
0.18
autism
0.11
breast carcinoma
0.11
Abnormality of the liver
0.10

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

Protein function (UniProt)

Small G protein signaling modulator 3

GTPase-activating protein (GAP) specific for Rab5 small GTPase for which it accelerates the intrinsic GTP hydrolysis rate, thereby controlling trafficking through the early endocytic pathway (PubMed:16086013, PubMed:17562788). May play a cooperative role in NF2-mediated growth suppression of cells