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Gene

GJA5

gap junction protein alpha 5

Summary

Cytogenetic location
1q21.2
Coordinates
Chromosome 1: 147,756,199–147,760,602 (GRCh38)
Exons
2 exons across 4.4 kb
Protein
358 amino acids
Inheritance
Autosomal dominant
Also known as
CX40
MANE Select transcript
ENST00000579774.3NM_181703.4
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

  • Familial Atrial Fibrillation

    • Autosomal dominant

      Atrial fibrillation running in families, linked to changes in genes such as KCNQ1, KCNJ2, GJA5, MYL4, NPPA and SCN5A.

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

      Knowing about it supports earlier ECG checks for relatives and timely discussion of stroke prevention.

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 GJA5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where GJA5 sits. GJA5 and 7 genes near it on chromosome 1, from 147,258,401 to 148,258,400.Chromosome 11q21.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44147.4 Mb147.6 Mb147.8 Mb148 Mb148.2 MbCHD1L: 147,242,643–147,295,767, forward strandCHD1LBCL9: 147,541,337–147,626,226, forward strandBCL9: 147,611,590–147,611,796, forward strandACP6: 147,629,652–147,670,541, reverse strandACP6GJA5: 147,756,199–147,760,602, reverse strandGJA5GJA8: 147,902,795–147,909,269, forward strandGJA8GPHRB: 147,928,322–147,993,850, forward strandGPHRBNBPF11: 148,100,201–148,152,342, reverse strandNBPF11Diagram of GJA5: 2 exons on the reverse strand of chromosome 1Exon 2: 2 known disease-causing sitesExon 2: 147,756,199–147,759,271, 3,073 basesExon 1: 147,760,499–147,760,602, 104 bases215′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 3.2 kb of the gene's 4.4 kb; 1,077 of those bases code for the protein.

How a genome test reads GJA5

2

positions in GJA5 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 4.4 kb of GJA5, introns included, not only the 3.2 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.). GJA5 gene: gap junction protein alpha 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/gja5

Vancouver

Dante Labs. GJA5 gene: gap junction protein alpha 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gja5

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