CSNK2A1 Chromosome 20
Casein kinase 2 alpha 1
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What This Gene Does
Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]
Associated Conditions (9)
Autism spectrum disorder
Okur-Chung neurodevelopmental syndrome
CSNK2A1-related disorder
Inborn genetic diseases
CSNK2A1-related neurodevelopmental syndrome
Developmental disorder
Intellectual disability
See cases
Neurodevelopmental delay
Key Variants
RS1034583315
Conflicting classifications of pathogenicity
Autism spectrum disorder, Okur-Chung neurodevelopmental syndrome, Autism spectrum disorder
Health Risk
RS1057518092
Conflicting classifications of pathogenicity
Okur-Chung neurodevelopmental syndrome, CSNK2A1-related disorder, Okur-Chung neurodevelopmental syndrome
Health Risk
RS2122559628
Conflicting classifications of pathogenicity
Okur-Chung neurodevelopmental syndrome, CSNK2A1-related disorder, Okur-Chung neurodevelopmental syndrome
Health Risk
RS61745803
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1380843831
Likely pathogenic
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
Health Risk
RS1555764992
Likely pathogenic
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
Health Risk
RS1568512728
Likely pathogenic
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
Health Risk
RS2018178212
Likely pathogenic
Health Risk
RS2018334698
Likely pathogenic
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
Health Risk
RS2018375840
Likely pathogenic
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
Health Risk
RS2018409484
Likely pathogenic
Health Risk
RS2018549058
Likely pathogenic
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2122537652 | Health Risk | Pathogenic/Likely pathogenic | Okur-Chung neurodevelopmental syndrome, CSNK2A1-related disorder, Okur-Chung neurodevelopmental syndrome |
| RS2514672851 | Health Risk | Pathogenic/Likely pathogenic | Okur-Chung neurodevelopmental syndrome, Intellectual disability, Okur-Chung neurodevelopmental syndrome |
| RS869312840 | Health Risk | Pathogenic/Likely pathogenic | Okur-Chung neurodevelopmental syndrome, Inborn genetic diseases, See cases |
| RS869312845 | Health Risk | Pathogenic/Likely pathogenic | Okur-Chung neurodevelopmental syndrome, Inborn genetic diseases, Okur-Chung neurodevelopmental syndrome |
| RS869312849 | Health Risk | Pathogenic/Likely pathogenic | Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome |