Gene
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
- HGNC 1404↗(opens in a new tab)
- Ensembl gene ENSG00000182389↗(opens in a new tab)
- NCBI Gene 785↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q23.3
- Coordinates
- Chromosome 2: 151,832,771–152,099,044 (GRCh38)
- Exons
- 14 exons across 266.3 kb
- Protein
- 520 amino acids
- Also known as
- EJM4
- MANE Select transcript
- ENST00000539935.7NM_000726.5
- 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 CACNB4 yet. The test sequences your whole genome, so your data includes it all the same.
How CACNB4 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 7.9 kb of the gene's 266.3 kb; 1,563 of those bases code for the protein.
How a genome test reads CACNB4
1
position in CACNB4 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 266.3 kb of CACNB4, introns included, not only the 7.9 kb of exons.
Traits linked to CACNB4
The Human Phenotype Ontology lists these as features of the rare conditions CACNB4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- EEG with polyspike wave complexes
- Generalized-onset seizure
- Morning myoclonic jerks
- Ataxia
- Balance impairment
- Difficulty articulating speech
- Grand mal seizures
- Instability or lack of coordination of central trunk muscles
Show 14 more traits
- Atypical absence seizure
- Brief seizures with staring spells
- EEG with generalized spikes
- EEG with spike-wave complexes
- Episodic ataxia
- Febrile seizure (within the age range of 3 months to 6 years)
- Generalized tonic seizure
- Jerking
- Photosensitive tonic-clonic seizure
- Typical absence seizure
- Aggressive behavior
- Repeated seizures without recovery between them
- Intellectual disability
- Morning generalized tonic-clonic seizures
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.). CACNB4 gene: calcium voltage-gated channel auxiliary subunit beta 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/cacnb4
Dante Labs. CACNB4 gene: calcium voltage-gated channel auxiliary subunit beta 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cacnb4
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