Gene
CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
- HGNC 1399↗(opens in a new tab)
- Ensembl gene ENSG00000153956↗(opens in a new tab)
- NCBI Gene 781↗(opens in a new tab)
Summary
- Cytogenetic location
- 7q21.11
- Coordinates
- Chromosome 7: 81,946,444–82,443,777 (GRCh38)
- Exons
- 39 exons across 497.3 kb
- Protein
- 1,091 amino acids
- Also known as
- lncRNA-N3, alpha2delta-1
- Previous symbols
- CACNL2A, CACNA2, MHS3, LINC01112
- MANE Select transcript
- ENST00000356860.8NM_000722.4
- 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 CACNA2D1 yet. The test sequences your whole genome, so your data includes it all the same.
How CACNA2D1 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 7.5 kb of the gene's 497.3 kb; 3,276 of those bases code for the protein.
How a genome test reads CACNA2D1
3
positions in CACNA2D1 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 497.3 kb of CACNA2D1, introns included, not only the 7.5 kb of exons.
Traits linked to CACNA2D1
The Human Phenotype Ontology lists these as features of the rare conditions CACNA2D1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Brief seizures with staring spells
- Chorea
- IQ less than 20
- Orofacial dyskinesia
- Pain insensitivity
- Profound global developmental delay
- Underdevelopment of part of brain called corpus callosum
Show 32 more traits
- Encephalopathy
- Abnormality of coordination
- Continuous spike and waves during slow sleep
- Decreased reflex response
- Delayed speech and language development
- EEG with multifocal slow activity
- Epilepsy
- Focal impaired awareness hemiclonic seizure
- Global developmental delay
- Intellectual disability
- Loss of developmental milestones
- Obstructive sleep apnea
- Teeth grinding
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Behavioral abnormality
- Brain degeneration
- Degeneration of cerebrum
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Hypsarrhythmia
- Impulsivity
- Involuntary movements
- Jerking
- Mental deterioration
- Tremor
- Unsteady walk
- Repeated seizures without recovery between them
Abnormality of the cardiovascular system
- Shortened QT interval
- Slow heartbeats
- Complete right bundle branch block
- Fainting spell
- Heart stops beating
- Palpitations
- Quivering upper heart chambers resulting in irregular heartbeat
- ST segment elevation
Show 10 more traits
- Elevated heart rate
- First degree atrioventricular block
- Interruption of electrical communication between upper and lower chambers of heart
- Paroxysmal ventricular tachycardia
- Sick sinus syndrome
- Sudden cardiac death
- Supraventricular tachycardia
- Ventricular arrhythmia
- Ventricular fibrillation
- Trifascicular block
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.). CACNA2D1 gene: calcium voltage-gated channel auxiliary subunit alpha2delta 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cacna2d1
Dante Labs. CACNA2D1 gene: calcium voltage-gated channel auxiliary subunit alpha2delta 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cacna2d1
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