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Gene

CLN8

CLN8 transmembrane ER and ERGIC protein

Summary

Cytogenetic location
8p23.3
Coordinates
Chromosome 8: 1,763,789–1,786,570 (GRCh38)
Exons
3 exons across 22.8 kb
Protein
286 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ39417, TLCD6
Previous symbols
EPMR, C8orf61
MANE Select transcript
ENST00000331222.6NM_018941.4
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

  • Neuronal Ceroid Lipofuscinosis

    • Autosomal recessive

      A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

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

Broader groupings

  • Epilepsy (Full Panel)

    • Epilepsy

      One of 171 genes linked to it

      A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

      • 1 GenCC submitter rates it definitive or strong

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 7 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 CLN8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where CLN8 sits. CLN8 and 5 genes near it on chromosome 8, from 1,275,180 to 2,275,179.Chromosome 88p23.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31.4 Mb1.6 Mb1.8 Mb2 Mb2.2 MbDLGAP2: 737,627–1,708,476, forward strandDLGAP2CLN8: 1,763,789–1,786,570, forward strandCLN8KBTBD11-OT1: 1,763,888–1,958,627, forward strandKBTBD11-OT1ARHGEF10: 1,823,332–1,958,642, forward strandARHGEF10KBTBD11: 1,973,516–2,006,937, forward strandKBTBD11MYOM2: 2,036,919–2,165,552, forward strandMYOM2Diagram of CLN8: 3 exons on the forward strand of chromosome 8Exon 2: 40 known disease-causing sitesExon 3: 26 known disease-causing sitesExon 1: 1,763,789–1,763,885, 97 basesExon 2: 1,770,932–1,771,597, 666 basesExon 3: 1,780,250–1,786,570, 6,321 bases1235′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 7.1 kb of the gene's 22.8 kb; 861 of those bases code for the protein.

How a genome test reads CLN8

68

positions in CLN8 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 22.8 kb of CLN8, introns included, not only the 7.1 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.). CLN8 gene: CLN8 transmembrane ER and ERGIC protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/cln8

Vancouver

Dante Labs. CLN8 gene: CLN8 transmembrane ER and ERGIC protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cln8

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