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Gene

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5

Summary

Cytogenetic location
20q13.33
Coordinates
Chromosome 20: 63,895,126–63,936,011 (GRCh38)
Exons
5 exons across 40.9 kb
Protein
198 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ00118, FLJ13070, DNAJC5A
Previous symbols
CLN4
MANE Select transcript
ENST00000360864.9NM_025219.3
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

  • 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 moderate
      • 3 GenCC submitters rate it definitive or strong

Broader groupings

  • 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 moderate
      • 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 DNAJC5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where DNAJC5 sits. DNAJC5 and 34 genes near it on chromosome 20, from 63,415,569 to 64,415,568.Chromosome 2020q13.33p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3363.6 Mb63.8 Mb64 Mb64.2 Mb64.4 MbKCNQ2: 63,400,208–63,472,689, reverse strandKCNQ2EEF1A2: 63,477,488–63,500,533, reverse strandEEF1A2PPDPF: 63,520,255–63,532,108, forward strandPTK6: 63,526,306–63,537,770, reverse strandPTK6SRMS: 63,538,489–63,547,752, reverse strandSRMSFNDC11: 63,547,891–63,558,138, forward strandFNDC11HELZ2: 63,558,086–63,574,239, reverse strandHELZ2GMEB2: 63,587,601–63,628,426, reverse strandGMEB2STMN3: 63,639,705–63,657,682, reverse strandSTMN3RTEL1: 63,657,810–63,696,253, forward strandRTEL1RTEL1-TNFRSF6B: 63,659,300–63,698,684, forward strandTNFRSF6B: 63,696,368–63,698,689, forward strandARFRP1: 63,698,622–63,708,662, reverse strandZGPAT: 63,707,353–63,736,150, forward strand: 63,708,864–63,739,103, forward strandLIME1: 63,736,283–63,739,108, forward strandLIME1: 63,738,270–63,740,398, forward strandSLC2A4RG: 63,739,758–63,744,603, forward strandSLC2A4RGZBTB46: 63,743,668–63,832,455, reverse strandZBTB46ABHD16B: 63,861,498–63,862,988, forward strandABHD16BTPD52L2: 63,865,199–63,892,266, forward strandTPD52L2DNAJC5: 63,895,126–63,936,011, forward strandDNAJC5UCKL1: 63,939,811–63,956,500, reverse strandUCKL1ZNF512B: 63,956,704–63,969,967, reverse strandZNF512BSAMD10: 63,973,610–63,980,008, reverse strandSAMD10PRPF6: 63,979,671–64,033,984, forward strandPRPF6C20orf204: 64,034,344–64,039,962, forward strandC20orf204SOX18: 64,047,582–64,050,629, reverse strandSOX18TCEA2: 64,049,836–64,072,352, forward strandTCEA2RGS19: 64,073,181–64,079,988, reverse strandRGS19OPRL1: 64,079,967–64,100,649, forward strandLKAAEAR1: 64,083,376–64,084,967, reverse strandMYT1: 64,102,222–64,242,253, forward strandMYT1NPBWR2: 64,103,802–64,107,565, reverse strandPCMTD2: 64,254,921–64,304,820, forward strandPCMTD2Diagram of DNAJC5: 5 exons on the forward strand of chromosome 20Exon 4: 4 known disease-causing sitesExon 1: 63,895,126–63,895,323, 198 basesExon 2: 63,928,335–63,928,452, 118 basesExon 3: 63,929,312–63,929,525, 214 basesExon 4: 63,930,851–63,931,022, 172 basesExon 5: 63,931,465–63,936,011, 4,547 bases123455′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 5.2 kb of the gene's 40.9 kb; 597 of those bases code for the protein.

How a genome test reads DNAJC5

4

positions in DNAJC5 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 40.9 kb of DNAJC5, introns included, not only the 5.2 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.). DNAJC5 gene: DnaJ heat shock protein family (Hsp40) member C5. Retrieved 16 October 2026, from https://dantelabs.com/genes/dnajc5

Vancouver

Dante Labs. DNAJC5 gene: DnaJ heat shock protein family (Hsp40) member C5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dnajc5

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