ACTB Chromosome 7
Actin beta
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What This Gene Does
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]
Gene Info
Gene Group
"Actins|BAF complex subunits|PBAF complex subunits|GBAF complex subunits"
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000075624
Associated Conditions (28)
Baraitser-Winter syndrome 1
Inborn genetic diseases
ACTB-related disorder
Baraitser-Winter syndrome
ACTB-related BAFopathy
Intellectual disability
Thrombocytopenia
ACTB-associated syndromic thrombocytopenia
Cervical cancer
Developmental malformations-deafness-dystonia syndrome
Congenital smooth muscle hamartoma
ACTB Haploinsufficiency syndrome
Neurodevelopmental disorder
Aminoacylase 1 deficiency
Abnormal brain morphology
Short stature
Microcephaly
BECKER NEVUS
SOMATIC
MOSAIC
+8 more conditions
Key Variants
RS11546934
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
Health Risk
RS1172866708
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
Health Risk
RS1189379541
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Inborn genetic diseases, Baraitser-Winter syndrome 1
Health Risk
RS1254718824
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
Health Risk
RS1554329546
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, ACTB-related disorder, Baraitser-Winter syndrome 1
Health Risk
RS1562718649
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome, Baraitser-Winter syndrome 1, Baraitser-Winter syndrome
Health Risk
RS1562719872
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
Health Risk
RS1584262037
Conflicting classifications of pathogenicity
Health Risk
RS1784809823
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
Health Risk
RS1784814856
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
Health Risk
RS2128241170
Conflicting classifications of pathogenicity
ACTB-related BAFopathy, Baraitser-Winter syndrome 1, ACTB-related BAFopathy
Health Risk
RS2128241271
Conflicting classifications of pathogenicity
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
Health Risk
All Variants (123)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2533848058 | Health Risk | Pathogenic | — |
| RS2533849972 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS281875331 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS281875333 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS397515470 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779770 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779773 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779774 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome, Baraitser-Winter syndrome 1 |
| RS587779775 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS587779776 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS765265404 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS794729643 | Health Risk | Pathogenic | Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS886041267 | Health Risk | Pathogenic | — |
| RS1064793444 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-Winter syndrome 1, ACTB-related BAFopathy, Baraitser-Winter syndrome 1 |
| RS1554329078 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-Winter syndrome 1, Inborn genetic diseases, Baraitser-Winter syndrome 1 |
| RS1554329216 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-Winter syndrome 1, Cleft palate, Baraitser-Winter syndrome 1 |
| RS1554329317 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Baraitser-Winter syndrome 1, Inborn genetic diseases |
| RS2128241304 | Health Risk | Pathogenic/Likely pathogenic | Congenital smooth muscle hamartoma, CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC |
| RS2128241408 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-Winter syndrome 1, Developmental malformations-deafness-dystonia syndrome, Baraitser-Winter syndrome 1 |
| RS2533847765 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-Winter syndrome 1, ACTB-associated syndromic thrombocytopenia, Baraitser-Winter syndrome 1 |
| RS786205585 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-Winter syndrome 1, Neurodevelopmental delay, Baraitser-Winter syndrome 1 |
| RS886039472 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Baraitser-Winter syndrome 1, See cases |
| RS886041309 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Baraitser-Winter syndrome 1, Intellectual disability |