Gene
KCND3
potassium voltage-gated channel subfamily D member 3
- HGNC 6239↗(opens in a new tab)
- Ensembl gene ENSG00000171385↗(opens in a new tab)
- NCBI Gene 3752↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p13.2
- Coordinates
- Chromosome 1: 111,770,662–111,989,668 (GRCh38)
- Exons
- 8 exons across 219 kb
- Protein
- 655 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- Kv4.3, KSHIVB
- Previous symbols
- SCA22, SCA19
- MANE Select transcript
- ENST00000302127.5NM_001378969.1
- 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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Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)
- Autosomal Dominant Cerebellar AtaxiaAutosomal dominant
A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How KCND3 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 7.6 kb of the gene's 219 kb; 1,968 of those bases code for the protein.
How a genome test reads KCND3
20
positions in KCND3 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 219 kb of KCND3, introns included, not only the 7.6 kb of exons.
Genes linked to the same conditions
- AFG3L2AFG3 like matrix AAA peptidase subunit 2Shares 1 condition
- ATN1atrophin 1Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
- ATXN1ataxin 1Shares 1 condition
- ATXN10ataxin 10Shares 1 condition
- ATXN2ataxin 2Shares 1 condition
- ATXN3ataxin 3Shares 1 condition
- ATXN7ataxin 7Shares 1 condition
- BEAN1brain expressed associated with NEDD4 1Shares 1 condition
- CACNA1Acalcium voltage-gated channel subunit alpha1 AShares 1 condition
- CACNA1Gcalcium voltage-gated channel subunit alpha1 GShares 1 condition
- CAMTA1calmodulin binding transcription activator 1Shares 1 condition
Traits linked to KCND3
The Human Phenotype Ontology lists these as features of the rare conditions KCND3 can cause. Each trait's page lists the other genes linked to it.
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.). KCND3 gene: potassium voltage-gated channel subfamily D member 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/kcnd3
Dante Labs. KCND3 gene: potassium voltage-gated channel subfamily D member 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kcnd3
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