Gene
KCTD1
potassium channel tetramerization domain containing 1
- HGNC 18249↗(opens in a new tab)
- Ensembl gene ENSG00000134504↗(opens in a new tab)
- NCBI Gene 284252↗(opens in a new tab)
Summary
- Cytogenetic location
- 18q11.2
- Coordinates
- Chromosome 18: 26,454,910–26,548,553 (GRCh38)
- Exons
- 5 exons across 93.6 kb
- Protein
- 865 amino acids
- Previous symbols
- C18orf5
- MANE Select transcript
- ENST00000580059.7NM_001142730.3
- 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 KCTD1 yet. The test sequences your whole genome, so your data includes it all the same.
How KCTD1 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 3.4 kb of the gene's 93.6 kb; 2,598 of those bases code for the protein.
How a genome test reads KCTD1
2
positions in KCTD1 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 93.6 kb of KCTD1, introns included, not only the 3.4 kb of exons.
Traits linked to KCTD1
The Human Phenotype Ontology lists these as features of the rare conditions KCTD1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormality of the scalp
- Taurodontia
- Abnormal dentition
- Corners of eye widely separated
- Delayed eruption of teeth
- Fullness of eyelids
- Absence of lower premolar
- Absence of six year molar
Show 21 more traits
- Absence of twelve year molar
- Absence of upper premolar
- Bifid uvula
- Big lower jaw
- Cleft eyelid
- Cleft lower eyelid
- Cranial defect
- Decreased length of dental roots
- Decreased size of tooth
- Depressed nasal bridge
- Extra teeth
- Eye folds
- Frontal bossing
- Hypoplasia of the dental root
- Narrow opening between the eyelids
- Nasal tip, upturned
- Radiculomegaly
- Short columella
- Torus palatinus
- Narrow eyelid opening
- Absence of adult teeth
Abnormality of the integument
- Absence of part of skin at birth
- Limited armpit hair
- Sparse pubic hair
- Abnormality of the skin
- Decreased ability to sweat
- Sparse hair
- Abnormal fingernails
- Atypical nail growth
Show 5 more traits
Abnormality of the ear
- Abnormal antihelix morphology
- Overfolded ears
- Small earlobe
- Small ears
- Underdeveloped antitragus
- Underdeveloped tragus
- Anteverted ears
- Ears rotated toward back of head
Show 3 more traits
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.). KCTD1 gene: potassium channel tetramerization domain containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/kctd1
Dante Labs. KCTD1 gene: potassium channel tetramerization domain containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kctd1
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