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Gene

NEK8

NIMA related kinase 8

Summary

Cytogenetic location
17q11.2
Coordinates
Chromosome 17: 28,728,788–28,743,455 (GRCh38)
Exons
15 exons across 14.7 kb
Protein
692 amino acids
Inheritance
Autosomal recessive
Also known as
NPHP9
MANE Select transcript
ENST00000268766.11NM_178170.3
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 reports relevant to this gene

  • Nephronophthisis and Senior-Løken Syndrome

    • NephronophthisisAutosomal recessive

      A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.

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

      Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.

  • Polycystic Kidney Disease

    • A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.

      • ClinGen rates the link strong
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Tolvaptan (Jynarque, FDA 2018) for rapidly progressive ADPKD; blood pressure control (target <110/75); pain management; cyst infection treatment; brain MRA screening for intracranial aneurysms; kidney transplantation for ESRD

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How NEK8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where NEK8 sits. NEK8 and 34 genes near it on chromosome 17, from 28,236,122 to 29,236,121.Chromosome 1717q11.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.328.4 Mb28.6 Mb28.8 Mb29 Mb29.2 MbTMEM97: 28,319,097–28,332,671, forward strandIFT20: 28,328,319–28,335,489, reverse strandTNFAIP1: 28,335,572–28,349,943, forward strandPOLDIP2: 28,343,133–28,357,623, reverse strandVMA12: 28,357,636–28,363,683, forward strandSEBOX: 28,363,506–28,365,199, reverse strand: 28,364,288–28,368,012, reverse strandSARM1: 28,364,356–28,404,049, forward strandSARM1VTN: 28,366,414–28,373,091, reverse strandVTNSLC46A1: 28,394,642–28,407,197, reverse strandSLC46A1RSKR: 28,455,752–28,614,210, reverse strandSLC13A2: 28,473,275–28,497,782, forward strandSLC13A2FOXN1: 28,506,243–28,538,900, forward strandFOXN1UNC119: 28,546,705–28,552,655, reverse strandPIGS: 28,553,383–28,571,794, reverse strandPIGSALDOC: 28,573,115–28,576,948, reverse strandALDOCSPAG5: 28,577,565–28,599,052, reverse strandSPAG5: 28,580,012–28,614,185, reverse strandBLTP2: 28,614,440–28,645,454, reverse strandBLTP2SDF2: 28,648,346–28,662,189, reverse strandSDF2SUPT6H: 28,661,920–28,702,682, forward strandPROCA1: 28,703,196–28,712,313, reverse strandRAB34: 28,713,545–28,719,594, reverse strandRAB34RPL23A: 28,719,940–28,724,365, forward strandRPL23ATLCD1: 28,723,435–28,727,935, reverse strandTLCD1NEK8: 28,728,788–28,743,455, forward strandNEK8TRAF4: 28,743,978–28,772,894, forward strandFAM222B: 28,755,966–28,855,232, reverse strandERAL1: 28,854,983–28,861,067, forward strandERAL1FLOT2: 28,879,335–28,897,741, reverse strandFLOT2DHRS13: 28,897,781–28,903,087, reverse strandDHRS13PHF12: 28,905,247–28,951,771, reverse strandPHF12PIPOX: 28,950,513–29,057,583, forward strandPIPOXSEZ6: 28,954,901–29,006,440, reverse strandSEZ6MYO18A: 29,071,119–29,180,457, reverse strandMYO18ADiagram of NEK8: 15 exons on the forward strand of chromosome 17Exon 2: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 1: 28,728,788–28,728,860, 73 basesExon 2: 28,733,983–28,734,188, 206 basesExon 3: 28,734,772–28,735,004, 233 basesExon 4: 28,735,240–28,735,371, 132 basesExon 5: 28,737,306–28,737,514, 209 basesExon 6: 28,737,675–28,737,736, 62 basesExon 7: 28,737,819–28,738,000, 182 basesExon 8: 28,738,095–28,738,245, 151 basesExon 9: 28,738,671–28,738,747, 77 basesExon 10: 28,739,084–28,739,201, 118 basesExon 11: 28,740,463–28,740,613, 151 basesExon 12: 28,740,822–28,740,985, 164 basesExon 13: 28,741,078–28,741,236, 159 basesExon 14: 28,741,413–28,741,571, 159 basesExon 15: 28,741,959–28,743,455, 1,497 bases12468101214155′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 3.6 kb of the gene's 14.7 kb; 2,079 of those bases code for the protein.

How a genome test reads NEK8

32

positions in NEK8 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 14.7 kb of NEK8, introns included, not only the 3.6 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.). NEK8 gene: NIMA related kinase 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/nek8

Vancouver

Dante Labs. NEK8 gene: NIMA related kinase 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nek8

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