GNAT2

Chr 1

G protein subunit alpha transducin 2

Also known as: ACHM4, GNATC, HG1D

NCBI Gene: 2780ENSG00000134183UniProt: P19087

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAchromatopsia 4

Clinical highlights

Gene-disease validity (ClinGen)
GNAT2-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — GNAT2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.000
Z-score 1.62
OE 0.59 (0.37–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.66Z-score
OE missense 0.86 (0.76–0.98)
161 obs / 186.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.37–0.98)
0≤0.351.4
Missense OE?0.86 (0.76–0.98)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 11 / 18.6Missense obs/exp: 161 / 186.5Syn Z: 0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GNAT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients