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Gene

GJB6

gap junction protein beta 6

Summary

Cytogenetic location
13q12.11
Coordinates
Chromosome 13: 20,221,962–20,232,319 (GRCh38)
Exons
5 exons across 10.4 kb
Protein
261 amino acids
Inheritance
Autosomal dominant
Also known as
EDH, HED, CX30
Previous symbols
DFNA3, ED2
MANE Select transcript
ENST00000647029.1NM_001110219.3
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

  • Ectodermal Dysplasias

    • Clouston syndromeAutosomal dominant

      A GJB6 ectodermal dysplasia with hair loss, nail thickening and thickened palms and soles, with normal sweating and teeth.

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

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 1 GenCC submitter rates it definitive or strong
    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

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

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

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

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GJB6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where GJB6 sits. GJB6 and 9 genes near it on chromosome 13, from 19,727,141 to 20,727,140.Chromosome 1313q12.11p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3419.8 Mb20 Mb20.2 Mb20.4 Mb20.6 MbPSPC1: 19,568,249–19,783,019, reverse strandPSPC1ZMYM5: 19,823,482–19,864,935, reverse strandZMYM5ZMYM2: 19,958,673–20,091,856, forward strandZMYM2GJA3: 20,138,252–20,161,615, reverse strandGJA3GJB2: 20,187,463–20,192,980, reverse strandGJB2GJB6: 20,221,962–20,232,319, reverse strandGJB6CRYL1: 20,403,666–20,525,893, reverse strandCRYL1IFT88: 20,566,600–20,691,697, forward strandIFT88IL17D: 20,702,127–20,723,099, forward strandIL17DEEF1AKMT1: 20,722,389–20,773,991, reverse strandEEF1AKMT1Diagram of GJB6: 5 exons on the reverse strand of chromosome 13Exon 5: 3 known disease-causing sitesExon 5: 20,221,962–20,223,495, 1,534 basesExon 4: 20,229,580–20,229,749, 170 basesExon 3: 20,230,698–20,230,807, 110 basesExon 2: 20,231,382–20,231,505, 124 basesExon 1: 20,232,194–20,232,319, 126 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 2.1 kb of the gene's 10.4 kb; 786 of those bases code for the protein.

How a genome test reads GJB6

3

positions in GJB6 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 10.4 kb of GJB6, introns included, not only the 2.1 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.). GJB6 gene: gap junction protein beta 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/gjb6

Vancouver

Dante Labs. GJB6 gene: gap junction protein beta 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gjb6

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