Gene
CANT1
calcium activated nucleotidase 1
- HGNC 19721↗(opens in a new tab)
- Ensembl gene ENSG00000171302↗(opens in a new tab)
- NCBI Gene 124583↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.3
- Coordinates
- Chromosome 17: 78,991,716–79,009,764 (GRCh38)
- Exons
- 5 exons across 18 kb
- Protein
- 401 amino acids
- Also known as
- SHAPY, SCAN-1
- MANE Select transcript
- ENST00000392446.10NM_001159773.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads CANT1 yet. The test sequences your whole genome, so your data includes it all the same.
How CANT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.3 kb of the gene's 18 kb; 1,206 of those bases code for the protein.
How a genome test reads CANT1
21
positions in CANT1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 18 kb of CANT1, introns included, not only the 3.3 kb of exons.
Traits linked to CANT1
The Human Phenotype Ontology lists these as features of the rare conditions CANT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Accelerated wrist bone maturation
- Flat acetabular roof
- Monkey wrench femoral neck
- Outward bow-leggedness
- Short neck of thighbone
- Small innermost thighbone end part
- Abnormal neck or head of thigh bone
- Abnormality of the wide portion of a long bone
Show 28 more traits
- Dislocated kneecap
- Permanent flexion of the finger
- Radial deviation of the 2nd finger
- Back knee
- Coxa valga
- Coxa vara
- Curvature of little finger
- Elbow dislocation
- Fused forearm bones
- Small hand
- Toe hyperphalangy
- Accelerated ankle bone maturation
- Broad femoral neck
- Broad wide portion of long bone
- Club feet
- Dropped arches
- Gap between 1st and 2nd toes
- Medial deviation of the foot
- Notched outermost bone of big toe
- Notched outermost bone of the thumb
- Overgrowth of innermost part of calf bone
- Phalangeal dislocation
- Radioulnar dislocation
- Short fingers or toes
- Short long bone of foot
- Shortened 1st long bone of hand
- Triangular shaped hand bones
- Wide 1st long bone of foot
Abnormality of head or neck
- Round face
- Small retruded chin
- Zygomatic flattening
- Depressed nasal bridge
- Nasal tip, upturned
- Short neck
- Abnormal eyelashes
- Boxer's nasal deformity
Show 5 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CANT1 gene: calcium activated nucleotidase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cant1
Dante Labs. CANT1 gene: calcium activated nucleotidase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cant1
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