Gene
CACNA2D4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
- HGNC 20202↗(opens in a new tab)
- Ensembl gene ENSG00000151062↗(opens in a new tab)
- NCBI Gene 93589↗(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.33
- Coordinates
- Chromosome 12: 1,791,963–1,918,652 (GRCh38)
- Exons
- 38 exons across 126.7 kb
- Protein
- 1,137 amino acids
- Also known as
- alpha2delta-4
- MANE Select transcript
- ENST00000382722.10NM_172364.5
- 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 CACNA2D4 yet. The test sequences your whole genome, so your data includes it all the same.
How CACNA2D4 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 5.3 kb of the gene's 126.7 kb; 3,414 of those bases code for the protein.
How a genome test reads CACNA2D4
8
positions in CACNA2D4 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 126.7 kb of CACNA2D4, introns included, not only the 5.3 kb of exons.
Traits linked to CACNA2D4
The Human Phenotype Ontology lists these as features of the rare conditions CACNA2D4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal retinal pigmentation
- Difficulties with night vision
- Extreme sensitivity of the eyes to light
- Abnormal color vision
- Abnormal full-field electroretinogram
- Blind spot located at fixation point
- Color blindness
- Optic disc pallor
Show 11 more traits
- Progressive loss of vision
- Retinal atrophy
- Spicular pigmentation of the retina
- Involuntary, rapid, rhythmic eye movements
- Metamorphopsia
- Visual impairment
- Cone/cone-rod dystrophy
- Decreased clarity of vision
- ERG: Reduced dark-adapted b-wave amplitude
- Limited peripheral vision
- Retinal pigment epithelial mottling
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.). CACNA2D4 gene: calcium voltage-gated channel auxiliary subunit alpha2delta 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/cacna2d4
Dante Labs. CACNA2D4 gene: calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cacna2d4
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