RBM24

Chr 6

RNA binding motif protein 24

Also known as: RNPC6, dJ259A10.1

NCBI Gene: 221662ENSG00000112183UniProt: Q9BX46

Enables mRNA 3'-UTR AU-rich region binding activity; mRNA CDS binding activity; and sequence-specific mRNA binding activity. Involved in several processes, including negative regulation of cytoplasmic translation; positive regulation of cell differentiation; and regulation of mRNA metabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
LOEUF
DN
Mechanism· predicted
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?
0.90LOEUF
pLI 0.086
Z-score 1.77
OE 0.35 (0.16–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.50Z-score
OE missense 0.65 (0.55–0.77)
93 obs / 143.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.16–0.90)
0≤0.351.4
Missense OE?0.65 (0.55–0.77)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 3 / 8.6Missense obs/exp: 93 / 143.6Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RBM24 · 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