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Gene

CERKL

CERK like autophagy regulator

Summary

Cytogenetic location
2q31.3
Coordinates
Chromosome 2: 181,536,672–181,657,105 (GRCh38)
Exons
13 exons across 120.4 kb
Protein
532 amino acids
Inheritance
Autosomal recessive
Previous symbols
RP26
MANE Select transcript
ENST00000410087.8NM_201548.5
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

  • Retinitis Pigmentosa

    • CERKL-Related RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the CERKL gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 3 GenCC submitters rate it definitive or strong

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 CERKL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where CERKL sits. CERKL and 4 genes near it on chromosome 2, from 181,096,889 to 182,096,888.Chromosome 22q31.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3181.2 Mb181.4 Mb181.6 Mb181.8 Mb182 MbITGA4: 181,457,014–181,538,940, forward strandITGA4CERKL: 181,536,672–181,657,105, reverse strandCERKLNEUROD1: 181,668,295–181,680,827, reverse strandNEUROD1ITPRID2: 181,841,292–181,930,738, forward strandITPRID2PPP1R1C: 181,954,241–182,131,398, forward strandPPP1R1CDiagram of CERKL: 13 exons on the reverse strand of chromosome 2Exon 13: 6 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 2: 22 known disease-causing sitesExon 1: 15 known disease-causing sitesExon 13: 181,536,672–181,538,244, 1,573 basesExon 12: 181,539,092–181,539,264, 173 basesExon 11: 181,544,700–181,544,796, 97 basesExon 10: 181,547,618–181,547,726, 109 basesExon 9: 181,547,822–181,547,847, 26 basesExon 8: 181,548,545–181,548,604, 60 basesExon 7: 181,548,680–181,548,857, 178 basesExon 6: 181,549,634–181,549,708, 75 basesExon 5: 181,558,566–181,558,708, 143 basesExon 4: 181,566,058–181,566,121, 64 basesExon 3: 181,573,753–181,573,884, 132 basesExon 2: 181,603,837–181,604,079, 243 basesExon 1: 181,656,769–181,657,105, 337 bases1310515′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 3.2 kb of the gene's 120.4 kb; 1,599 of those bases code for the protein.

How a genome test reads CERKL

120

positions in CERKL 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 120.4 kb of CERKL, introns included, not only the 3.2 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.). CERKL gene: CERK like autophagy regulator. Retrieved 16 October 2026, from https://dantelabs.com/genes/cerkl

Vancouver

Dante Labs. CERKL gene: CERK like autophagy regulator [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cerkl

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