RNPC3
Chr 1ARRNA binding region (RNP1, RRM) containing 3
Also known as: CPHD7, IGHD5, RBM40, RNP, SNRNP65
RNPC3 encodes a 65K protein that binds to U12 snRNA and participates in U12-dependent splicing by the minor spliceosome, which removes the rare U12-type introns that comprise less than 1% of pre-mRNA introns. Autosomal recessive mutations cause combined or isolated pituitary hormone deficiency (CPHD7). The pathogenic mechanism likely involves disrupted splicing of U12-type introns in genes critical for pituitary development and hormone production.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
137 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 4 | 16 | 0 | 23 |
Likely Pathogenic | 1 | 0 | 2 | 0 | 3 |
VUS | 1 | 68 | 18 | 0 | 87 |
Likely Benign | 0 | 2 | 5 | 5 | 12 |
Benign | 0 | 1 | 5 | 1 | 7 |
| Total | 5 | 75 | 46 | 6 | 132 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RNPC3 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools