GJC2

gap junction protein gamma 2

2 disorders 2 causative 1q42.13 gene with protein product

HGNC:17494 Monarch NCBI Gene 57165 ENSG00000198835 UniProt Q5T442 OMIM 608803

Previous symbols: GJA12. Aliases: CX47, CX46.6, SPG44.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Hereditary Spastic Paraplegia 44	causative germline loss of function	mechanism: Connexin-47 Channel Loss of Function
Hypomyelinating Leukodystrophy 2	causative germline loss of function CLINGEN: definitive	mechanism: Biallelic GJC2 Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-24 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
hypomyelinating leukodystrophy 2 MONDO:0012125	AR	Definitive 2025-03-12	Hypomyelinating Leukodystrophy 2 causative

Mechanism modules · computed from kb/

cns_myelin_failure via Hereditary Spastic Paraplegia 44, Hypomyelinating Leukodystrophy 2

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.