UNC80

Chr 2AR

unc-80 subunit of NALCN channel complex

Also known as: C2orf21, UNC-80

NCBI Gene: 285175ENSG00000144406UniProt: Q8N2C7OMIM: 612636

The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.311 OMIM phenotype
Clinical Summary— UNC80
🧬
Gene-Disease Validity (ClinGen)
hypotonia, infantile, with psychomotor retardation and characteristic facies 2 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.31LOEUF
pLI 0.052
Z-score 9.12
OE 0.24 (0.18–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
5.53Z-score
OE missense 0.63 (0.59–0.66)
1089 obs / 1738.0 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.24 (0.18–0.31)
0≤0.351.4
Missense OE?0.63 (0.59–0.66)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 39 / 165.8Missense obs/exp: 1089 / 1738.0Syn Z: 3.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UNC80 · 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