CNNM3

Chr 2

cyclin and CBS domain divalent metal cation transport mediator 3

Also known as: ACDP3, SLC70A3

NCBI Gene: 26505ENSG00000168763UniProt: Q8NE01

Predicted to enable transmembrane transporter activity. Predicted to be involved in magnesium ion homeostasis. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
Multiple*
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?
0.97LOEUF
pLI 0.000
Z-score 1.66
OE 0.62 (0.41–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.76Z-score
OE missense 0.88 (0.79–0.97)
256 obs / 292.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.41–0.97)
0≤0.351.4
Missense OE?0.88 (0.79–0.97)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 14 / 22.5Missense obs/exp: 256 / 292.4Syn Z: -0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CNNM3 · 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