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GJC2

Gene

gap junction protein gamma 2

HGNCHGNC:17494EnsemblENSG00000198835NCBI Gene57165
Locus: gene with protein productLocation: 1q42.13

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asGJA12 · CX47 · CX46.6 · SPG44
View full nomenclature history (7)
Previous symbolsGJA12
Alias symbolsCX47, CX46.6, SPG44
Previous namesgap junction protein, alpha 12, 47kDa, gap junction protein, gamma 2, 47kDa
Alias namesconnexin 47

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Milroy disease
Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Gap junction proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.