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Gene

WNK1

WNK lysine deficient protein kinase 1

Summary

Cytogenetic location
12p13.33
Coordinates
Chromosome 12: 752,579–911,452 (GRCh38)
Exons
28 exons across 158.9 kb
Protein
2,382 amino acids
Inheritance
Autosomal dominant
Also known as
HSAN2, PPP1R167
Previous symbols
PRKWNK1, HSN2
MANE Select transcript
ENST00000315939.11NM_018979.4
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 reports relevant to this gene

  • Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)

    • Hereditary Sensory and Autonomic Neuropathy

      A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).

  • Monogenic Hypertension & Mineralocorticoid Disorders

    • Pseudohypoaldosteronism Type 2 (Gordon Syndrome)Autosomal dominant

      A condition caused by changes in WNK1, WNK4, KLHL3 or CUL3 that causes high blood pressure with high potassium and acid build-up in the blood.

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

      Knowing about it points to thiazide diuretics, which usually correct both the blood pressure and the potassium.

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 WNK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where WNK1 sits. WNK1 and 6 genes near it on chromosome 12, from 332,016 to 1,332,015.Chromosome 1212p13.33p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.330.4 Mb0.6 Mb0.8 Mb1 Mb1.2 MbKDM5A: 279,552–389,589, reverse strandKDM5ACCDC77: 389,273–442,645, forward strandCCDC77B4GALNT3: 459,923–563,509, forward strandB4GALNT3NINJ2: 562,852–663,753, reverse strandNINJ2WNK1: 752,579–911,452, forward strandWNK1RAD52: 910,870–990,053, reverse strandRAD52ERC1: 989,998–1,495,933, forward strandERC1Diagram of WNK1: 28 exons on the forward strand of chromosome 12Exon 7: 3 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 14: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 19: 5 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 1: 752,579–754,324, 1,746 basesExon 2: 813,642–813,814, 173 basesExon 3: 827,042–827,262, 221 basesExon 4: 830,003–830,160, 158 basesExon 5: 857,161–857,249, 89 basesExon 6: 859,245–859,464, 220 basesExon 7: 861,013–861,343, 331 basesExon 8: 862,083–862,270, 188 basesExon 9: 871,265–871,348, 84 basesExon 10: 878,212–878,361, 150 basesExon 11: 879,573–880,031, 459 basesExon 12: 880,721–880,999, 279 basesExon 13: 881,692–881,789, 98 basesExon 14: 881,911–882,073, 163 basesExon 15: 882,943–883,059, 117 basesExon 16: 883,395–883,568, 174 basesExon 17: 883,774–883,831, 58 basesExon 18: 884,121–884,243, 123 basesExon 19: 884,649–886,084, 1,436 basesExon 20: 887,221–887,304, 84 basesExon 21: 889,140–889,223, 84 basesExon 22: 890,453–890,513, 61 basesExon 23: 894,562–894,635, 74 basesExon 24: 896,071–896,732, 662 basesExon 25: 897,479–897,681, 203 basesExon 26: 900,476–900,670, 195 basesExon 27: 907,847–908,034, 188 basesExon 28: 908,475–911,452, 2,978 bases1510152025285′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 10.8 kb of the gene's 158.9 kb; 7,149 of those bases code for the protein.

How a genome test reads WNK1

52

positions in WNK1 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 158.9 kb of WNK1, introns included, not only the 10.8 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.). WNK1 gene: WNK lysine deficient protein kinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/wnk1

Vancouver

Dante Labs. WNK1 gene: WNK lysine deficient protein kinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/wnk1

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