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Gene

KCTD17

potassium channel tetramerization domain containing 17

Summary

Cytogenetic location
22q12.3
Coordinates
Chromosome 22: 37,051,742–37,063,390 (GRCh38)
Exons
9 exons across 11.6 kb
Protein
314 amino acids
Also known as
FLJ12242
MANE Select transcript
ENST00000403888.8NM_001282684.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 2 GenCC submitters rate it definitive or strong

How KCTD17 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 22, with a bracket where KCTD17 sits. KCTD17 and 18 genes near it on chromosome 22, from 36,557,566 to 37,557,565.Chromosome 2222q12.3p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3336.6 Mb36.8 Mb37 Mb37.2 Mb37.4 MbCACNG2: 36,560,857–36,703,779, reverse strandCACNG2IFT27: 36,741,346–36,776,309, reverse strandIFT27PVALB: 36,800,682–36,819,479, reverse strandPVALBNCF4: 36,860,795–36,878,067, forward strandNCF4CSF2RB: 36,913,590–36,940,454, forward strandCSF2RBCIMIP4: 36,991,119–37,007,884, reverse strandCIMIP4TST: 37,010,859–37,024,797, reverse strandTSTMPST: 37,019,635–37,029,828, forward strandMPSTKCTD17: 37,051,742–37,063,390, forward strandKCTD17TMPRSS6: 37,065,005–37,110,890, reverse strandTMPRSS6IL2RB: 37,118,666–37,176,676, reverse strandIL2RBC1QTNF6: 37,180,166–37,199,385, reverse strandC1QTNF6SSTR3: 37,204,237–37,212,482, reverse strandSSTR3RAC2: 37,225,270–37,259,594, reverse strandRAC2CYTH4: 37,282,027–37,315,346, forward strandCYTH4ELFN2: 37,367,960–37,427,596, reverse strandELFN2MFNG: 37,464,544–37,486,432, reverse strandMFNGCARD10: 37,490,362–37,519,591, reverse strandCARD10CDC42EP1: 37,555,112–37,571,052, forward strandCDC42EP1Diagram of KCTD17: 9 exons on the forward strand of chromosome 22Exon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 1: 37,051,742–37,051,949, 208 basesExon 2: 37,053,100–37,053,208, 109 basesExon 3: 37,056,320–37,056,411, 92 basesExon 4: 37,057,398–37,057,493, 96 basesExon 5: 37,059,313–37,059,438, 126 basesExon 6: 37,060,823–37,060,922, 100 basesExon 7: 37,061,104–37,061,175, 72 basesExon 8: 37,061,539–37,061,629, 91 basesExon 9: 37,062,525–37,063,390, 866 bases1234567895′3′

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 1.8 kb of the gene's 11.6 kb; 945 of those bases code for the protein.

How a genome test reads KCTD17

3

positions in KCTD17 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 11.6 kb of KCTD17, introns included, not only the 1.8 kb of exons.

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

APA

Dante Labs. (n.d.). KCTD17 gene: potassium channel tetramerization domain containing 17. Retrieved 17 October 2026, from https://dantelabs.com/genes/kctd17

Vancouver

Dante Labs. KCTD17 gene: potassium channel tetramerization domain containing 17 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kctd17

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