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Gene

GJA8

gap junction protein alpha 8

Summary

Cytogenetic location
1q21.2
Coordinates
Chromosome 1: 147,902,795–147,909,269 (GRCh38)
Exons
2 exons across 6.5 kb
Protein
433 amino acids
Also known as
CX50
Previous symbols
CAE1, CZP1, CAE
MANE Select transcript
ENST00000369235.2NM_005267.5
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 reports relevant to this gene

No Genome Test report reads GJA8 yet. The test sequences your whole genome, so your data includes it all the same.

How GJA8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where GJA8 sits. GJA8 and 6 genes near it on chromosome 1, from 147,406,032 to 148,406,031.Chromosome 11q21.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44147.6 Mb147.8 Mb148 Mb148.2 Mb148.4 MbBCL9: 147,541,337–147,626,226, forward strandBCL9: 147,611,590–147,611,796, forward strandACP6: 147,629,652–147,670,541, reverse strandACP6GJA5: 147,755,804–147,773,390, 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 GJA8: 2 exons on the forward strand of chromosome 1Exon 2: 38 known disease-causing sitesExon 1: 147,902,795–147,902,861, 67 basesExon 2: 147,907,945–147,909,269, 1,325 bases125′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 1.4 kb of the gene's 6.5 kb; 1,302 of those bases code for the protein.

How a genome test reads GJA8

38

positions in GJA8 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 6.5 kb of GJA8, introns included, not only the 1.4 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.
  • 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.). GJA8 gene: gap junction protein alpha 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/gja8

Vancouver

Dante Labs. GJA8 gene: gap junction protein alpha 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gja8

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