Gene: ACTB
Alternate names for this Gene: BRWS1|PS1TP5BP1
Gene Summary: 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.
Gene is located in Chromosome: 7
Location in Chromosome : 7p22.1
Description of this Gene: actin beta
Type of Gene: protein-coding
rs104894003 in
ACTB gene and
Dysmorphic features
PMID 22495914 2012 Clinical and molecular characterization of a second case of 7p22.1 microduplication.
PMID 25156961 2015 Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.
PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
PMID 10411937 1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
PMID 27868373 2017 Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
PMID 23649928 2013 Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
rs2098226 in
ACTB gene and
Electrocardiography
PMID 29622589 2018 Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study).
rs2966450 in
ACTB gene and
Finding of Mean Corpuscular Hemoglobin
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs281875331 in
ACTB gene and
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
PMID 10411937 1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
rs104894003 in
ACTB gene and
Juvenile-onset dystonia
PMID 12325076 2002 Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.
PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
rs769182426 in
ACTB gene and
Multiple congenital anomalies
PMID 23649928 2013 Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
PMID 27868373 2017 Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
PMID 25156961 2015 Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.
PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
PMID 10411937 1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
PMID 22495914 2012 Clinical and molecular characterization of a second case of 7p22.1 microduplication.
rs2908425 in
ACTB gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.