RAB23

Chr 6

RAB23, member RAS oncogene family

Also known as: CRPT1, HSPC137

NCBI Gene: 51715ENSG00000112210UniProt: Q9ULC3

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCarpenter syndrome 1

Clinical highlights

Gene-disease validity (ClinGen)
RAB23-related Carpenter syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.006
Z-score 2.02
OE 0.42 (0.23–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.32Z-score
OE missense 0.92 (0.79–1.07)
112 obs / 121.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.23–0.83)
0≤0.351.4
Missense OE?0.92 (0.79–1.07)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 6 / 14.2Missense obs/exp: 112 / 121.9Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RAB23 · protein map & ClinVar variants

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

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