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Gene

CEP83

centrosomal protein 83

Summary

Cytogenetic location
12q22
Coordinates
Chromosome 12: 94,307,698–94,459,867 (GRCh38)
Exons
17 exons across 152.2 kb
Protein
701 amino acids
Inheritance
Autosomal recessive
Also known as
NY-REN-58, NPHP18
Previous symbols
CCDC41
MANE Select transcript
ENST00000397809.10NM_016122.3
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

  • 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.

      • 3 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.

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 CEP83 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 CEP83 sits. CEP83 and 4 genes near it on chromosome 12, from 93,883,783 to 94,883,782.Chromosome 1212q22p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3394 Mb94.2 Mb94.4 Mb94.6 Mb94.8 MbCRADD: 93,677,375–93,894,840, forward strandCRADDPLXNC1: 94,148,555–94,307,675, forward strandPLXNC1CEP83: 94,307,698–94,459,867, reverse strandCEP83TMCC3: 94,567,122–94,650,614, reverse strandTMCC3NDUFA12: 94,877,059–95,003,748, reverse strandNDUFA12Diagram of CEP83: 17 exons on the reverse strand of chromosome 12Exon 17: 2 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 4 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 17: 94,307,698–94,308,917, 1,220 basesExon 16: 94,309,918–94,310,107, 190 basesExon 15: 94,312,914–94,313,017, 104 basesExon 14: 94,331,700–94,331,829, 130 basesExon 13: 94,333,482–94,333,639, 158 basesExon 12: 94,335,589–94,335,664, 76 basesExon 11: 94,367,794–94,367,943, 150 basesExon 10: 94,368,057–94,368,201, 145 basesExon 9: 94,369,922–94,370,036, 115 basesExon 8: 94,375,886–94,376,017, 132 basesExon 7: 94,378,791–94,379,042, 252 basesExon 6: 94,400,850–94,400,981, 132 basesExon 5: 94,403,170–94,403,262, 93 basesExon 4: 94,411,697–94,411,847, 151 basesExon 3: 94,412,318–94,412,591, 274 basesExon 2: 94,435,275–94,435,327, 53 basesExon 1: 94,459,557–94,459,867, 311 bases171510515′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 3.7 kb of the gene's 152.2 kb; 2,106 of those bases code for the protein.

How a genome test reads CEP83

43

positions in CEP83 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 152.2 kb of CEP83, introns included, not only the 3.7 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.). CEP83 gene: centrosomal protein 83. Retrieved 16 October 2026, from https://dantelabs.com/genes/cep83

Vancouver

Dante Labs. CEP83 gene: centrosomal protein 83 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cep83

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