RRP12

Chr 10

ribosomal RNA processing 12 homolog

Also known as: IBGC11, KIAA0690

NCBI Gene: 23223ENSG00000052749UniProt: Q5JTH9

Enables RNA binding activity. Located in nucleolus and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBasal ganglia calcification, idiopathic, 11, autosomal recessive
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.57
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
Moderate LoF intolerance
LoF Constraint?
0.57LOEUF
pLI 0.000
Z-score 4.49
OE 0.42 (0.32–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.77Z-score
OE missense 0.92 (0.87–0.98)
714 obs / 774.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.32–0.57)
0≤0.351.4
Missense OE?0.92 (0.87–0.98)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 30 / 70.8Missense obs/exp: 714 / 774.5Syn Z: -1.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RRP12 · 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 →

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