CNNM4

Chr 2

cyclin and CBS domain divalent metal cation transport mediator 4

Also known as: ACDP4, SLC70A4

NCBI Gene: 26504ENSG00000158158UniProt: Q6P4Q7

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJalili syndrome

Clinical highlights

Gene-disease validity (ClinGen)
Jalili syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.94
LOEUF
LOF
Mechanism· G2P
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GeneReview available — CNNM4
Authoritative clinical overview · Recommended first read
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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?
0.94LOEUF
pLI 0.000
Z-score 1.78
OE 0.60 (0.40–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.37Z-score
OE missense 0.68 (0.62–0.75)
307 obs / 448.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.60 (0.40–0.94)
0≤0.351.4
Missense OE?0.68 (0.62–0.75)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 14 / 23.3Missense obs/exp: 307 / 448.4Syn Z: -0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CNNM4 · 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