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Gene

HSPB8

heat shock protein family B (small) member 8

Summary

Cytogenetic location
12q24.23
Coordinates
Chromosome 12: 119,178,931–119,194,746 (GRCh38)
Exons
3 exons across 15.8 kb
Protein
196 amino acids
Also known as
H11, E2IG1, HSP22, CMT2L
MANE Select transcript
ENST00000281938.7NM_014365.3
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

  • 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

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

  • Myofibrillar Myopathies

    • Myofibrillar myopathy

      A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.

  • 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 HSPB8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where HSPB8 sits. HSPB8 and 5 genes near it on chromosome 12, from 118,686,839 to 119,686,838.Chromosome 1212q24.23p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33118.8 Mb119 Mb119.2 Mb119.4 Mb119.6 MbSRRM4: 118,981,355–119,163,051, forward strandSRRM4HSPB8: 119,178,931–119,194,746, forward strandHSPB8CCDC60: 119,334,698–119,541,047, forward strandCCDC60TMEM233: 119,593,559–119,643,075, forward strandTMEM233PRKAB1: 119,667,862–119,681,629, forward strandPRKAB1CIT: 119,685,108–119,877,338, reverse strandCITDiagram of HSPB8: 3 exons on the forward strand of chromosome 12Exon 2: 3 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 1: 119,178,931–119,179,679, 749 basesExon 2: 119,187,025–119,187,088, 64 basesExon 3: 119,193,699–119,194,746, 1,048 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 1.9 kb of the gene's 15.8 kb; 591 of those bases code for the protein.

How a genome test reads HSPB8

8

positions in HSPB8 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 15.8 kb of HSPB8, introns included, not only the 1.9 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.). HSPB8 gene: heat shock protein family B (small) member 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/hspb8

Vancouver

Dante Labs. HSPB8 gene: heat shock protein family B (small) member 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hspb8

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