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Gene

HSPB1

heat shock protein family B (small) member 1

Summary

Cytogenetic location
7q11.23
Coordinates
Chromosome 7: 76,302,673–76,304,292 (GRCh38)
Exons
3 exons across 1.6 kb
Protein
205 amino acids
Also known as
HSP27, HSP28, Hs.76067, Hsp25, CMT2F
MANE Select transcript
ENST00000248553.7NM_001540.5
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

    • Charcot-Marie-Tooth Disease

      • 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.

        • ClinGen rates the link definitive
        • 4 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

    How HSPB1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 7, with a bracket where HSPB1 sits. HSPB1 and 14 genes near it on chromosome 7, from 75,803,483 to 76,803,482.Chromosome 77q11.23p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.376 Mb76.2 Mb76.4 Mb76.6 Mb76.8 MbCCL24: 75,810,825–75,823,943, reverse strandCCL24RHBDD2: 75,842,602–75,890,056, forward strandRHBDD2POR: 75,899,200–75,986,855, forward strandPORTMEM120A: 75,973,304–75,994,669, reverse strandTMEM120ASTYXL1: 75,996,315–76,048,809, reverse strandSTYXL1MDH2: 76,048,037–76,067,508, forward strandMDH2SRRM3: 76,201,864–76,287,288, forward strandSRRM3HSPB1: 76,302,673–76,304,292, forward strandHSPB1YWHAG: 76,326,799–76,359,022, reverse strandYWHAGSSC4D: 76,389,017–76,409,744, reverse strandSSC4DZP3: 76,397,497–76,442,071, forward strandZP3DTX2: 76,461,656–76,507,223, forward strandDTX2UPK3B: 76,510,353–76,532,774, forward strandUPK3BSPDYE16: 76,531,313–76,543,297, reverse strandSPDYE16POMZP3: 76,601,809–76,627,288, reverse strandPOMZP3Diagram of HSPB1: 3 exons on the forward strand of chromosome 7Exon 1: 11 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 1: 76,302,673–76,303,076, 404 basesExon 2: 76,303,802–76,303,865, 64 basesExon 3: 76,303,984–76,304,292, 309 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 0.8 kb of the gene's 1.6 kb; 618 of those bases code for the protein.

    How a genome test reads HSPB1

    32

    positions in HSPB1 where ClinVar classes a change as pathogenic or likely pathogenic

    11 of them (34%) fall in regions short reads find hard.

    • Low mappability (11 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

    A whole genome covers all 1.6 kb of HSPB1, introns included, not only the 0.8 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.). HSPB1 gene: heat shock protein family B (small) member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/hspb1

    Vancouver

    Dante Labs. HSPB1 gene: heat shock protein family B (small) member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hspb1

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