UCN3
Chr 10urocortin 3
Also known as: SCP, SPC, UCNIII
This gene encodes urocortin 3, a peptide hormone secreted by pancreatic beta and alpha cells that regulates insulin secretion in response to glucose levels and suppresses food intake. Mutations cause maturity-onset diabetes of the young type 14 (MODY14), an autosomal dominant form of early-onset diabetes typically presenting in adolescence or young adulthood. The gene shows tolerance to loss-of-function variants, suggesting that complete loss of function may not be the primary disease mechanism in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
78 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 | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 34 | 10 | 0 | 44 |
Likely Benign | 0 | 3 | 1 | 2 | 6 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 37 | 37 | 3 | 77 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UCN3 · 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