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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CSNK2A1
casein kinase 2 alpha 1
Chromosome 20 Β· 20p13
NCBI Gene: 1457Ensembl: ENSG00000101266.20HGNC: HGNC:2457UniProt: P68400
936PubMed Papers
21Diseases
1Drugs
78Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinaseTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmprotein stabilizationsymbiont-mediated disruption of host cell PML bodynegative regulation of signal transduction by p53 class mediatorOkur-Chung neurodevelopmental syndromeneurodegenerative diseasegenetic disorderneuroinflammatory disorder
✦AI Summary

CSNK2A1 encodes the catalytic subunit of casein kinase 2 (CK2), a constitutively active serine/threonine kinase that phosphorylates substrates with acidic residues C-terminal to phosphorylation sites. This kinase regulates multiple cellular processes including cell cycle progression, apoptosis, transcription, and DNA damage response 123. During mitosis, CSNK2A1 functions in the p53-dependent spindle assembly checkpoint, maintaining cyclin-B-CDK1 activity in response to spindle damage 4. Following DNA damage, CSNK2A1 phosphorylates repair proteins (MDC1, MRE11, RAD51, RAD9A), promoting their recruitment to damage sites 567. CSNK2A1 exhibits dual roles in apoptosis: it can phosphorylate p53 at Ser-392 following UV irradiation, promoting apoptosis, but also negatively regulates apoptosis by phosphorylating caspases and protective factors like YY1 189. The kinase regulates transcription through direct phosphorylation of RNA polymerases and numerous transcription factors (NF-ΞΊB, STAT1, CREB1, MYC) 3. Disease associations include Okur-Chung neurodevelopmental syndrome and enrichment in developmental disorder mutations 10. CSNK2A1 mutations also associate with adult T cell leukemia and contribute to cancer drug resistance in pancreatic adenocarcinoma and esophageal carcinoma 111213.

Sources cited
1
During mitosis, CSNK2A1 functions in the p53-dependent spindle assembly checkpoint, maintaining cyclin-B-CDK1 activity in response to spindle damage .
PMID: 19188443
2
This kinase regulates multiple cellular processes including cell cycle progression, apoptosis, transcription, and DNA damage response , , .
PMID: 19387551
3
Disease associations include Okur-Chung neurodevelopmental syndrome and enrichment in developmental disorder mutations .
PMID: 28135719
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Okur-Chung neurodevelopmental syndromeOpen Targets
0.80Strong
neurodegenerative diseaseOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.51Moderate
neuroinflammatory disorderOpen Targets
0.44Moderate
syndromic intellectual disabilityOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
Neurodevelopmental delayOpen Targets
0.34Weak
developmental disorder of mental healthOpen Targets
0.34Weak
mouth diseaseOpen Targets
0.31Weak
corneal ulcerOpen Targets
0.27Weak
Abnormality of the gastrointestinal tractOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
autism spectrum disorderOpen Targets
0.27Weak
sialolithiasisOpen Targets
0.27Weak
breast carcinomaOpen Targets
0.17Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
COVID-19Open Targets
0.10Weak
cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
Okur-Chung neurodevelopmental syndromeUniProt
Pathogenic Variants78
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)Pathogenic
Okur-Chung neurodevelopmental syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 47
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome|CSNK2A1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 134
NM_177559.3(CSNK2A1):c.473A>G (p.Lys158Arg)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 158
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome|Inborn genetic diseases|See cases|Neurodevelopmental delay
β˜…β˜…β˜†β˜†2025β†’ Residue 198
NM_177559.3(CSNK2A1):c.838C>T (p.Arg280Ter)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 50
NM_177559.3(CSNK2A1):c.997C>T (p.Arg333Ter)Pathogenic
CSNK2A1-related neurodevelopmental syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)Pathogenic
Okur-Chung neurodevelopmental syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 156
NM_177559.3(CSNK2A1):c.530G>A (p.Gly177Asp)Likely pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 177
NM_177559.3(CSNK2A1):c.79G>A (p.Glu27Lys)Pathogenic
not provided|Okur-Chung neurodevelopmental syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 27
NM_177559.3(CSNK2A1):c.224dup (p.Lys76fs)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 76
NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 160
NM_177559.3(CSNK2A1):c.572G>A (p.Arg191Gln)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 191
NM_177559.3(CSNK2A1):c.152G>A (p.Ser51Asn)Pathogenic
Okur-Chung neurodevelopmental syndrome|not provided|Intellectual disability
β˜…β˜…β˜†β˜†2024β†’ Residue 51
NM_177559.3(CSNK2A1):c.935G>A (p.Arg312Gln)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 312
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp)Pathogenic
Okur-Chung neurodevelopmental syndrome|Inborn genetic diseases|not provided|Developmental disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 312
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser)Pathogenic
Inborn genetic diseases|Okur-Chung neurodevelopmental syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 177
NM_177559.3(CSNK2A1):c.319C>T (p.Arg107Ter)Likely pathogenic
Okur-Chung neurodevelopmental syndrome|CSNK2A1-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 107
NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter)Likely pathogenic
Okur-Chung neurodevelopmental syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 306
View on ClinVar β†—
Drug Targets1
SILMITASERTIBPhase II
Casein kinase II alpha inhibitor
coronavirus infectious disease
Related Genes
TP53Protein interaction100%SSRP1Protein interaction100%CTR9Protein interaction100%HDAC1Protein interaction99%DVL1Protein interaction99%DVL3Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
87%
Bone Marrow
48%
Ovary
45%
Lung
42%
Liver
35%
Gene Interaction Network
Click a node to explore
CSNK2A1TP53SSRP1CTR9HDAC1DVL1DVL3
PROTEIN STRUCTURE
Preparing viewer…
PDB3WAR Β· 1.04 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.27]
RankingsWhere CSNK2A1 stands among ~20K protein-coding genes
  • #182of 20,598
    Most Researched936 Β· top 1%
  • #941of 5,498
    Most Pathogenic Variants78 Β· top quartile
  • #938of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedCSNK2A1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Prevalence and architecture of de novo mutations in developmental disorders.
PMID: 28135719
Nature Β· 2017
1.00
2
CSNK2 suppresses autophagy by activating FLN-NHL-containing TRIM proteins.
PMID: 37938186
Autophagy Β· 2024
0.92
3
Integrated molecular analysis of adult T cell leukemia/lymphoma.
PMID: 26437031
Nat Genet Β· 2015
0.90
4
An Integrative Pan-Cancer Analysis of the Prognostic and Immunological Role of Casein Kinase 2 Alpha Protein 1 (CSNK2A1) in Human Cancers: A Study Based on Bioinformatics and Immunohistochemical Analysis.
PMID: 34621130
Int J Gen Med Β· 2021
0.82
5
Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.
PMID: 39070093
Ther Adv Rare Dis Β· 2024
0.80