CSNK2A1: Casein Kinase 2 Alpha 1 Subunit
A serine/threonine protein kinase involved in cell cycle control, DNA repair, and oncogenic signaling.
Gene Information Card
| Symbol | CSNK2A1 |
|---|---|
| Full Name | Casein Kinase 2 Alpha 1 Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 1457 ncbi.nlm.nih.gov/gene/1457 |
| Ensembl ID | ENSG00000101266 |
| UniProt ID | P68400 |
| OMIM ID | 115440 |
| HGNC ID | 2459 |
| Aliases | CK2A1, CKII, CSNK2A1, CK2 alpha |
Description
The CSNK2A1 gene encodes the alpha catalytic subunit of casein kinase 2 (CK2), a constitutively active serine/threonine protein kinase. CK2 phosphorylates a wide range of substrates involved in cell proliferation, apoptosis, circadian rhythm, and DNA damage response. Overexpression and dysregulation of CSNK2A1 are implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and increased kinase activity promote cell survival and proliferation via NF-κB, PI3K/Akt, and Wnt signaling pathways. | COSMIC, NCBI |
| Okur-Chung Neurodevelopmental Syndrome | De novo missense mutations in CSNK2A1 cause autosomal dominant intellectual disability, hypotonia, and dysmorphic features. | ClinVar, OMIM |
| Hepatocellular carcinoma | Upregulation of CK2α enhances tumor growth and resistance to apoptosis. | NCBI, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 27.8 | High |
| Heart | 19.2 | Medium |
| Liver | 15.6 | Medium |
| Kidney | 22.1 | Medium |
| Testis | 31.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.4 | Cervical cancer cell line |
| HEK293 | 28.1 | Embryonic kidney cells |
| MCF7 | 25.3 | Breast cancer cell line |
| A549 | 30.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.593G>A (p.Arg198Gln) | Missense | Rare | Impaired kinase activity; associated with Okur-Chung syndrome |
| c.680A>G (p.Lys227Arg) | Missense | Rare | Reduced substrate phosphorylation; neurodevelopmental phenotype |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; severe developmental delay |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the kinase domain (e.g., p.Arg198Gln) reduce catalytic activity, leading to haploinsufficiency and neurodevelopmental disorder.
Gain of Function (GOF)
Gene amplification or overexpression in cancers increases CK2 activity, promoting oncogenic signaling.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by forming inactive heterocomplexes with wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• PI3K/Akt signaling (Reactome: R-HSA-1257604)
• NF-κB signaling (Reactome: R-HSA-1169091)
• DNA damage response (Reactome: R-HSA-5693532)
Protein Summary
The CSNK2A1 protein (CK2α) is a 391-amino acid serine/threonine kinase that forms the catalytic subunit of the CK2 holoenzyme. It is constitutively active and phosphorylates hundreds of substrates, including transcription factors, cell cycle regulators, and DNA repair proteins. CK2α is overexpressed in many cancers and is a target for therapeutic inhibition. Mutations in CSNK2A1 cause Okur-Chung neurodevelopmental syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSNK2A1 Knockout HEK293 Cell Line | EDJ-KQ50216 | Human | 1457 | Details Get a Quote |
| CSNK2A1 Knockout HeLa Cell Line | EDJ-KQ53012 | Human | 1457 | Details Get a Quote |
| CSNK2A1 Knockout A-549 Cell Line | EDJ-KQ61478 | Human | 1457 | Details Get a Quote |
| CSNK2A1 Knockout HCT 116 Cell Line | EDJ-KQ69975 | Human | 1457 | Details Get a Quote |
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