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Gene

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

Summary

Cytogenetic location
7q11.23
Coordinates
Chromosome 7: 73,680,918–73,683,453 (GRCh38)
Exons
1 exon across 2.5 kb
Protein
226 amino acids
Previous symbols
WBSCR18
MANE Select transcript
ENST00000395176.3NM_032317.3
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

    • Primary Mitochondrial Disease

      • Mitochondrial Respiratory Chain Complex Deficiency

        One of 61 genes linked to it

        Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.

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

        Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.

    How DNAJC30 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 7, with a bracket where DNAJC30 sits. DNAJC30 and 19 genes near it on chromosome 7, from 73,182,186 to 74,182,185.Chromosome 77q11.23p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.373.2 Mb73.4 Mb73.6 Mb73.8 Mb74 MbNSUN5: 73,302,516–73,308,867, reverse strandNSUN5TRIM50: 73,312,536–73,328,082, reverse strandTRIM50FKBP6: 73,328,161–73,358,637, forward strandFKBP6FZD9: 73,433,778–73,436,120, forward strandFZD9BAZ1B: 73,440,406–73,522,293, reverse strandBAZ1BBCL7B: 73,536,355–73,558,017, reverse strandBCL7BTBL2: 73,567,537–73,578,791, reverse strandTBL2MLXIPL: 73,593,194–73,624,575, reverse strandMLXIPLVPS37D: 73,667,831–73,682,024, forward strandVPS37DDNAJC30: 73,680,918–73,683,453, reverse strandDNAJC30BUD23: 73,683,161–73,698,228, forward strandBUD23STX1A: 73,699,205–73,719,706, reverse strandSTX1AABHD11: 73,736,091–73,738,864, reverse strandABHD11CLDN3: 73,768,997–73,770,270, reverse strandCLDN3CLDN4: 73,799,542–73,832,690, forward strandCLDN4METTL27: 73,832,679–73,842,540, reverse strandMETTL27TMEM270: 73,861,159–73,865,891, forward strandTMEM270ELN: 74,027,773–74,069,909, forward strandELNLIMK1: 74,082,933–74,122,527, forward strandLIMK1EIF4H: 74,174,127–74,197,122, forward strandEIF4HDiagram of DNAJC30: one exon on the reverse strand of chromosome 7Exon 1: 2 known disease-causing sitesExon 1: 73,680,918–73,683,453, 2,536 bases15′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 2.5 kb of the gene's 2.5 kb; 681 of those bases code for the protein.

    How a genome test reads DNAJC30

    2

    positions in DNAJC30 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 2.5 kb of DNAJC30, introns included, not only the 2.5 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.). DNAJC30 gene: DnaJ heat shock protein family (Hsp40) member C30. Retrieved 16 October 2026, from https://dantelabs.com/genes/dnajc30

    Vancouver

    Dante Labs. DNAJC30 gene: DnaJ heat shock protein family (Hsp40) member C30 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dnajc30

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