ACTB

Chr 7

actin beta

Also known as: BKRNS, BNS, BRWS1, CSMH, DDS1, PS1TP5BP1, THC8

NCBI Gene: 60ENSG00000075624UniProt: P60709

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDystonia-deafness syndrome 1
UniProtBaraitser-Winter syndrome 1
UniProtThrombocytopenia 8, with dysmorphic features and developmental delay
UniProtBecker nevus syndrome

Clinical highlights

Gene-disease validity (ClinGen)
Baraitser-Winter cerebrofrontofacial syndrome · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
8
Active trials
291
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.23
LOEUF· LoF intol.
Multiple*
Mechanism· G2P
📖
GeneReview available — ACTB
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.23LOEUF
pLI 0.986
Z-score 3.32
OE 0.00 (0.00–0.23)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
5.02Z-score
OE missense 0.06 (0.04–0.10)
14 obs / 226.7 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.23)
0≤0.351.4
Missense OE?0.06 (0.04–0.10)
0≤0.61.4
Synonymous OE?1.96
0≤1.21.6
LoF obs/exp: 0 / 12.9Missense obs/exp: 14 / 226.7Syn Z: -7.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ACTB · 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
Endometrial CancerMethylationCytology

Clinical Studies of Endometrial Cytology and Cervical Methylation Assays in Endometrial Cancer Screening and Fertility-Preservation Evaluation

NOT YET RECRUITING
NCT06672341Yulan RenStarted 2024-11-04
Endometrial Cytology TestingCervical Methylation Testing
Propionic Acidemia

AAVrh10-PCCA Gene Therapy for Propionic Acidemia

RECRUITING
NCT07643844Phase PHASE1Mayo ClinicStarted 2026-07-20
AAVrh10-PCCA low doseAAVrh10-PCCA middle doseAAVrh10-PCCA high dose
AsthmaHealthy

Air Pollution, Asthma and Circadian Clocks

ACTIVE NOT RECRUITING
NCT03406351University of PennsylvaniaStarted 2018-01-15
Observational
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

RECRUITING
NCT01238250Simons SearchlightStarted 2010-10
Cushing Syndrome

Cushing's Syndrome Before and After Treatment (CORRECT)

RECRUITING
NCT05521529University of AarhusStarted 2023-02-16
no intervention, as this is an observational study
COPD

Immuno-inflammatory Response of Erdosteine in COPD

NOT YET RECRUITING
NCT07329946Phase NAPierachille Santus, MD, PhDStarted 2026-09-01
ErdosteineStandard of Care (SOC)
Gene Expression ProfilingOrthodentic Appliances

Genes Associated With Bone Metabolism in the Saliva During Orthodontic Treatment

ACTIVE NOT RECRUITING
NCT07303647Kurdistan Higher Council of Medical SpecialtiesStarted 2025-10-12
PCR
Cervix CancerHPV InfectionCervical High Grade Squamous Intraepithelial Lesion

Optimization of Cervical Cancer Screening Among Women Living With HIV in Latin American Countries

ACTIVE NOT RECRUITING
NCT06002126Phase NAWeill Medical College of Cornell UniversityStarted 2023-08-02
Xpert HPVQIAsure Methylation Test

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