Gene
KCNA2
potassium voltage-gated channel subfamily A member 2
- HGNC 6220(opens in a new tab)
- Ensembl gene ENSG00000177301(opens in a new tab)
- NCBI Gene 3737(opens in a new tab)
Summary
- Cytogenetic location
- 1p13.3
- Coordinates
- Chromosome 1: 110,593,580–110,606,358 (GRCh38)
- Exons
- 3 exons across 12.8 kb
- Protein
- 499 amino acids
- Also known as
- Kv1.2, HK4
- MANE Select transcript
- ENST00000316361.10NM_004974.4
- 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.
Read KCNA2, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How KCNA2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 11.8 kb of the gene's 12.8 kb; 1,500 of those bases code for the protein.
How a genome test reads KCNA2
45
positions in KCNA2 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 12.8 kb of KCNA2, introns included, not only the 11.8 kb of exons.
Traits linked to KCNA2
The Human Phenotype Ontology lists these as features of the rare conditions KCNA2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- EEG with spike-wave complexes (2.5-3.5 Hz)
- Epilepsy
- Epileptic encephalopathy
- Febrile seizure (within the age range of 3 months to 6 years)
- Global developmental delay
- Myoclonic seizure
- Encephalopathy
Show 25 more traits
- Abnormality of coordination
- Decreased reflex response
- Delayed speech and language development
- EEG with multifocal slow activity
- Intellectual disability
- Loss of developmental milestones
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- 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
- Absent speech development
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). KCNA2 gene: potassium voltage-gated channel subfamily A member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/kcna2
Dante Labs. KCNA2 gene: potassium voltage-gated channel subfamily A member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kcna2
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks