Gene
KCNC2
potassium voltage-gated channel subfamily C member 2
- HGNC 6234↗(opens in a new tab)
- Ensembl gene ENSG00000166006↗(opens in a new tab)
- NCBI Gene 3747↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q21.1
- Coordinates
- Chromosome 12: 75,040,078–75,209,839 (GRCh38)
- Exons
- 5 exons across 169.8 kb
- Protein
- 638 amino acids
- Also known as
- Kv3.2
- MANE Select transcript
- ENST00000549446.6NM_139137.4
- 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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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 KCNC2 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 5.6 kb of the gene's 169.8 kb; 1,917 of those bases code for the protein.
How a genome test reads KCNC2
6
positions in KCNC2 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 169.8 kb of KCNC2, introns included, not only the 5.6 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to KCNC2
The Human Phenotype Ontology lists these as features of the rare conditions KCNC2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Delayed CNS myelination
- EEG with burst suppression
- Epileptic encephalopathy
- Epileptic spasm
- Eyelid myoclonus
- Intellectual disability
- Intellectual disability, severe
Show 41 more traits
- Severe global developmental delay
- Tonic seizure
- Tonic status epilepticus
- Encephalopathy
- Myoclonic seizure
- Abnormality of coordination
- Brief seizures with staring spells
- Decreased reflex response
- Delayed speech and language development
- EEG with multifocal slow activity
- EEG with polyspike wave complexes
- Epilepsy
- Focal impaired awareness seizure
- Global developmental delay
- Grand mal seizures
- Loss of developmental milestones
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Autism spectrum disorder
- Behavioral abnormality
- Brain degeneration
- Continuous spike and waves during slow sleep
- Degeneration of cerebrum
- Difficulty finding words
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Hypsarrhythmia
- Impulsivity
- Involuntary movements
- Jerking
- Mental deterioration
- More active than typical
- Sudden loss of muscle tone
- Tremor
- Unsteady walk
- Repeated seizures without recovery between them
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.). KCNC2 gene: potassium voltage-gated channel subfamily C member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnc2
Dante Labs. KCNC2 gene: potassium voltage-gated channel subfamily C member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnc2
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