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Gene

DNAJC12

DnaJ heat shock protein family (Hsp40) member C12

Summary

Cytogenetic location
10q21.3
Coordinates
Chromosome 10: 67,796,669–67,838,188 (GRCh38)
Exons
5 exons across 41.5 kb
Protein
198 amino acids
Inheritance
Autosomal recessive
Also known as
JDP1
MANE Select transcript
ENST00000225171.7NM_021800.3
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

  • BH4 Deficiency & Monoamine Neurotransmitter Disorders

    • Hyperphenylalaninemia due to DNAJC12 DeficiencyAutosomal recessive

      Caused by variants in DNAJC12, which can raise phenylalanine and cause neurotransmitter deficiency with movement and developmental problems.

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

      Knowing allows treatment with BH4 and neurotransmitter precursors, which can improve outcomes.

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 DNAJC12 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where DNAJC12 sits. DNAJC12 and 6 genes near it on chromosome 10, from 67,317,429 to 68,317,428.Chromosome 1010q21.3p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.367.4 Mb67.6 Mb67.8 Mb68 Mb68.2 MbCTNNA3: 65,912,457–67,763,637, reverse strandCTNNA3DNAJC12: 67,796,669–67,838,188, reverse strandDNAJC12SIRT1: 67,884,647–67,918,392, forward strandSIRT1HERC4: 67,921,899–68,075,353, reverse strandHERC4MYPN: 68,087,897–68,212,017, forward strandMYPNATOH7: 68,230,595–68,232,113, reverse strandATOH7PBLD: 68,262,014–68,334,114, reverse strandPBLDDiagram of DNAJC12: 5 exons on the reverse strand of chromosome 10Exon 5: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 5: 67,796,669–67,797,210, 542 basesExon 4: 67,805,583–67,805,787, 205 basesExon 3: 67,811,524–67,811,663, 140 basesExon 2: 67,823,314–67,823,392, 79 basesExon 1: 67,837,934–67,838,188, 255 bases543215′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 1.2 kb of the gene's 41.5 kb; 597 of those bases code for the protein.

How a genome test reads DNAJC12

5

positions in DNAJC12 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 41.5 kb of DNAJC12, introns included, not only the 1.2 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.). DNAJC12 gene: DnaJ heat shock protein family (Hsp40) member C12. Retrieved 17 October 2026, from https://dantelabs.com/genes/dnajc12

Vancouver

Dante Labs. DNAJC12 gene: DnaJ heat shock protein family (Hsp40) member C12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dnajc12

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