RAB31

Chr 18

RAB31, member RAS oncogene family

Also known as: Rab22B

NCBI Gene: 11031ENSG00000168461UniProt: Q13636

RAB31 encodes a small GTPase that regulates intracellular membrane trafficking, including transport between the Golgi apparatus, trans-Golgi network, and endosomes, as well as insulin-stimulated glucose transporter translocation and receptor internalization. Mutations in RAB31 cause autosomal recessive intellectual developmental disorder with microcephaly, seizures, and limb malformations. The gene shows tolerance to loss-of-function variants (pLI 0.001), consistent with the recessive inheritance pattern observed in affected individuals.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
16
Pubs (1 yr)
103
P/LP submissions
0%
P/LP missense
1.12
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— RAB31
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
98 unique Pathogenic / Likely Pathogenic· 26 VUS of 136 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.12LOEUF
pLI 0.001
Z-score 1.30
OE 0.57 (0.31–1.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.29Z-score
OE missense 0.65 (0.53–0.79)
69 obs / 106.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.57 (0.31–1.12)
0≤0.351.4
Missense OE0.65 (0.53–0.79)
0≤0.61.4
Synonymous OE0.62
0≤1.21.6
LoF obs/exp: 6 / 10.5Missense obs/exp: 69 / 106.5Syn Z: 1.81
DN
0.85top 5%
GOF
0.80top 10%
LOF
0.2091th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

136 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic96
Likely Pathogenic2
VUS26
Benign1
96
Pathogenic
2
Likely Pathogenic
26
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
96
0
96
Likely Pathogenic
0
0
2
0
2
VUS
0
19
7
0
26
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Total0191060125

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RAB31 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
The Cx43-Mediated Autophagy Mechanism Influences Triple-Negative Breast Cancer Through the Regulation of Rab31.
Yang J et al.·Cancers (Basel)
2025Open AccessFunctional
GPX8, COL1A1, RAB31, and Other Genes as Diagnostic Biomarkers for Crohn's Disease: A Bioinformatics Analysis Using Machine Learning.
Qiang R et al.·J Coll Physicians Surg Pak
2025
Retraction: RAB31 targeted by MiR-30c-2-3p regulates the GLI1 signaling pathway, affecting gastric cancer cell proliferation and apoptosis.
Frontiers Editorial Office.·Front Oncol
2025Open Access
EGFR/STAT3 signaling mediates the upregulation of CD47 in HPV-positive cervical cancer by activating p65 and exosome transporter RAB31.
Ke X et al.·Neoplasma
2025
Non-coding RNA RMRP governs RAB31-dependent MMP secretion, enhancing ovarian cancer invasion.
Lee KJ et al.·Biochim Biophys Acta Mol Basis Dis
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients