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Gene

DNAJB2

DnaJ heat shock protein family (Hsp40) member B2

Summary

Cytogenetic location
2q35
Coordinates
Chromosome 2: 219,279,366–219,286,895 (GRCh38)
Exons
9 exons across 7.5 kb
Protein
324 amino acids
Also known as
HSPF3, CMT2T
Previous symbols
HSJ1
MANE Select transcript
ENST00000336576.10NM_006736.6
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

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

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

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

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

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

How DNAJB2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where DNAJB2 sits. DNAJB2 and 38 genes near it on chromosome 2, from 218,783,131 to 219,783,130.Chromosome 22q35p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3218.8 Mb219 Mb219.2 Mb219.4 Mb219.6 MbCYP27A1: 218,781,688–218,825,335, forward strandCYP27A1PRKAG3: 218,819,050–218,832,086, reverse strandPRKAG3WNT6: 218,859,795–218,874,233, forward strandWNT6WNT10A: 218,880,852–218,899,581, forward strandWNT10ACDK5R2: 218,959,666–218,962,155, forward strandCDK5R2FEV: 218,981,087–218,985,566, reverse strandFEVCRYBA2: 218,990,189–218,994,270, reverse strandCRYBA2CFAP65: 219,002,846–219,041,527, reverse strandCFAP65IHH: 219,054,424–219,061,064, reverse strandIHHNHEJ1: 219,069,355–219,160,869, reverse strandNHEJ1: 219,075,329–219,170,827, reverse strandSLC23A3: 219,161,465–219,170,095, reverse strandSLC23A3CNPPD1: 219,170,704–219,182,664, reverse strandCNPPD1RETREG2: 219,176,225–219,185,917, forward strandZFAND2B: 219,195,237–219,209,651, forward strandABCB6: 219,209,765–219,219,012, reverse strand: 219,209,772–219,222,738, reverse strandATG9A: 219,219,380–219,230,383, reverse strandANKZF1: 219,229,769–219,236,679, forward strandGLB1L: 219,236,598–219,245,478, reverse strandGLB1LSTK16: 219,245,212–219,250,339, forward strandTUBA4A: 219,249,710–219,277,902, reverse strandTUBA4ATUBA4B: 219,253,243–219,272,197, forward strandTUBA4BDNAJB2: 219,279,366–219,286,895, forward strandDNAJB2PTPRN: 219,289,623–219,309,648, reverse strandPTPRNRESP18: 219,327,407–219,335,552, reverse strandRESP18DNPEP: 219,360,090–219,400,022, reverse strandDNPEPDES: 219,417,474–219,426,740, forward strandDESSPEG: 219,434,471–219,493,629, forward strandSPEG: 219,491,867–219,498,244, forward strandSPEGNB: 219,496,129–219,498,287, forward strandSPEGNBGMPPA: 219,498,618–219,513,898, forward strandGMPPAASIC4: 219,514,170–219,538,772, forward strandASIC4CHPF: 219,538,949–219,543,818, reverse strandCHPFTMEM198: 219,543,130–219,550,595, forward strandOBSL1: 219,550,727–219,572,076, reverse strandOBSL1INHA: 219,569,162–219,575,711, forward strandSTK11IP: 219,595,805–219,616,452, forward strandSTK11IPSLC4A3: 219,627,011–219,641,982, forward strandSLC4A3Diagram of DNAJB2: 9 exons on the forward strand of chromosome 2Exon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 219,279,366–219,279,518, 153 basesExon 2: 219,279,798–219,279,898, 101 basesExon 3: 219,280,578–219,280,687, 110 basesExon 4: 219,281,718–219,281,771, 54 basesExon 5: 219,281,939–219,282,061, 123 basesExon 6: 219,282,837–219,282,929, 93 basesExon 7: 219,283,133–219,283,235, 103 basesExon 8: 219,283,419–219,283,489, 71 basesExon 9: 219,284,632–219,286,895, 2,264 bases1234567895′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 3.1 kb of the gene's 7.5 kb; 975 of those bases code for the protein.

How a genome test reads DNAJB2

22

positions in DNAJB2 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 7.5 kb of DNAJB2, introns included, not only the 3.1 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.). DNAJB2 gene: DnaJ heat shock protein family (Hsp40) member B2. Retrieved 16 October 2026, from https://dantelabs.com/genes/dnajb2

Vancouver

Dante Labs. DNAJB2 gene: DnaJ heat shock protein family (Hsp40) member B2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dnajb2

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