CNGA3

cyclic nucleotide gated channel subunit alpha 3

2 disorders 2 causative 2q11.2 gene with protein product

HGNC:2150 Monarch NCBI Gene 1261 ENSG00000144191 UniProt Q16281 OMIM 600053

Previous symbols: CNCG3, ACHM2. Aliases: CCNC1, CCNCa, CNG3.

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
Achromatopsia	causative germline	mechanism: Cone CNG Channel Dysfunction subtype: ACHM2 animal model: Dog; Mouse scoped to subtype: ACHM2
Cone Dystrophy	causative germline

ClinGen gene–disease validity · snapshot 2026-10-03 · 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
CNGA3-related retinopathy MONDO:0800102	AR	Definitive 2022-02-03	no dismech entry

Mechanism modules · computed from kb/

phototransduction_cascade_dysfunction via Achromatopsia

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.