ACTG1

Chr 17

actin gamma 1

Also known as: ACT, ACTG, DFNA20, DFNA26, HEL-176

NCBI Gene: 71ENSG00000184009UniProt: P63261

Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal dominant, 20
UniProtBaraitser-Winter syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)
Baraitser-winter syndrome 2 · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
76
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
GOF
Mechanism· G2P
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GeneReview available — ACTG1
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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
Missense constrained — critical functional residues
LoF Constraint?
0.86LOEUF
pLI 0.005
Z-score 1.95
OE 0.43 (0.24–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
3.16Z-score
OE missense 0.37 (0.30–0.45)
72 obs / 196.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.43 (0.24–0.86)
0≤0.351.4
Missense OE?0.37 (0.30–0.45)
0≤0.61.4
Synonymous OE?3.73
0≤1.21.6
LoF obs/exp: 6 / 13.8Missense obs/exp: 72 / 196.7Syn Z: -18.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ACTG1 · 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.

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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