CANT1

Chr 17

calcium activated nucleotidase 1

Also known as: DBQD, DBQD1, EDM7, SCAN-1, SCAN1, SHAPY

NCBI Gene: 124583ENSG00000171302UniProt: Q8WVQ1

This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDesbuquois dysplasia 1
UniProtEpiphyseal dysplasia, multiple, 7

Clinical highlights

Gene-disease validity (ClinGen)
Desbuquois dysplasia 1 · 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
1.31
LOEUF
LOF
Mechanism· G2P
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GeneReview available — CANT1
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?
1.31LOEUF
pLI 0.000
Z-score 0.76
OE 0.77 (0.47–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.49Z-score
OE missense 0.92 (0.82–1.02)
243 obs / 265.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.47–1.31)
0≤0.351.4
Missense OE?0.92 (0.82–1.02)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 10 / 13.0Missense obs/exp: 243 / 265.4Syn Z: 0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CANT1 · 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