Skip to content
Use your HSA or FSA funds

Gene

KCNN4

potassium calcium-activated channel subfamily N member 4

Summary

Cytogenetic location
19q13.31
Coordinates
Chromosome 19: 43,766,533–43,780,973 (GRCh38)
Exons
9 exons across 14.4 kb
Protein
427 amino acids
Inheritance
Autosomal dominant
Also known as
KCa3.1, hSK4, hKCa4, hIKCa1, IK
MANE Select transcript
ENST00000648319.1NM_002250.3
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

  • Red Blood Cell Membrane Disorders

    • Hereditary StomatocytosisAutosomal dominant

      A group of conditions in which red cells leak or gain water and salts, including dehydrated hereditary stomatocytosis (PIEZO1, KCNN4), overhydrated stomatocytosis (RHAG), Southeast Asian ovalocytosis and Rh-deficiency syndrome, causing haemolytic anaemia of varying severity and sometimes iron overload.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Spleen removal should be avoided because it raises the risk of serious blood clots in these conditions.

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 KCNN4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where KCNN4 sits. KCNN4 and 35 genes near it on chromosome 19, from 43,273,753 to 44,273,752.Chromosome 1919q13.31p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4343.4 Mb43.6 Mb43.8 Mb44 Mb44.2 MbCD177: 43,353,686–43,364,397, forward strandCD177TEX101: 43,401,496–43,418,613, forward strandTEX101LYPD3: 43,460,787–43,465,608, reverse strandLYPD3PHLDB3: 43,473,625–43,505,301, reverse strandPHLDB3ETHE1: 43,506,713–43,527,259, reverse strandETHE1ZNF575: 43,525,497–43,541,813, forward strandZNF575XRCC1: 43,543,306–43,580,473, reverse strand: 43,554,692–43,593,036, reverse strandPINLYP: 43,575,801–43,583,964, forward strandIRGQ: 43,584,367–43,596,150, reverse strandZNF576: 43,593,805–43,601,189, forward strandZNF576SRRM5: 43,596,617–43,614,498, forward strandSRRM5ZNF428: 43,607,223–43,619,914, reverse strandZNF428CADM4: 43,622,055–43,639,858, reverse strandCADM4PLAUR: 43,645,672–43,670,547, reverse strandPLAURIRGC: 43,716,076–43,720,021, forward strandIRGCSMG9: 43,727,983–43,755,605, reverse strandSMG9KCNN4: 43,766,533–43,780,973, reverse strandKCNN4LYPD5: 43,785,874–43,827,206, reverse strandLYPD5ZNF283: 43,827,297–43,852,017, forward strandZNF283ZNF404: 43,864,321–43,901,831, reverse strandZNF404ZNF45: 43,910,549–43,935,306, reverse strandZNF45ZNF221: 43,951,204–43,972,739, forward strandZNF221ZNF155: 43,967,862–43,998,326, forward strandZNF155ZNF230: 44,002,934–44,013,924, forward strandZNF230ZNF222: 44,025,326–44,033,222, forward strandZNF222: 44,025,354–44,087,318, forward strandZNF223: 44,051,367–44,069,308, forward strandZNF223ZNF284: 44,072,138–44,089,613, forward strandZNF284ZNF224: 44,094,326–44,111,682, forward strandZNF224ZNF225: 44,112,181–44,135,473, forward strandZNF225ZNF234: 44,141,355–44,160,839, forward strandZNF234ZNF226: 44,165,069–44,178,381, forward strandZNF226ZNF227: 44,207,475–44,238,179, forward strandZNF227ZNF235: 44,228,729–44,305,046, reverse strandZNF235ZNF233: 44,259,863–44,277,043, forward strandZNF233Diagram of KCNN4: 9 exons on the reverse strand of chromosome 19Exon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 9: 43,766,533–43,767,089, 557 basesExon 8: 43,767,540–43,767,707, 168 basesExon 7: 43,768,963–43,769,032, 70 basesExon 6: 43,769,442–43,769,560, 119 basesExon 5: 43,769,719–43,769,829, 111 basesExon 4: 43,772,000–43,772,135, 136 basesExon 3: 43,774,192–43,774,619, 428 basesExon 2: 43,776,541–43,776,636, 96 basesExon 1: 43,780,703–43,780,973, 271 bases9876543215′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 2 kb of the gene's 14.4 kb; 1,284 of those bases code for the protein.

How a genome test reads KCNN4

4

positions in KCNN4 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 14.4 kb of KCNN4, introns included, not only the 2 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.). KCNN4 gene: potassium calcium-activated channel subfamily N member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnn4

Vancouver

Dante Labs. KCNN4 gene: potassium calcium-activated channel subfamily N member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnn4

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test