CKS2

Chr 9

CDC28 protein kinase regulatory subunit 2

Also known as: CKSHS2

NCBI Gene: 1164ENSG00000123975UniProt: P33552OMIM: 116901

The CKS2 protein binds to the catalytic subunit of cyclin dependent kinases and is essential for their biological function in cell cycle regulation. Mutations in CKS2 cause autosomal recessive neurodevelopmental disorder with microcephaly and growth retardation. The inheritance pattern is autosomal recessive.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.91
Clinical Summary— CKS2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.19) despite low pLI — interpret in context.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.91LOEUF
pLI 0.419
Z-score 1.71
OE 0.19 (0.07–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.28Z-score
OE missense 0.43 (0.29–0.64)
17 obs / 39.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.07–0.91)
0≤0.351.4
Missense OE0.43 (0.29–0.64)
0≤0.61.4
Synonymous OE1.19
0≤1.21.6
LoF obs/exp: 1 / 5.2Missense obs/exp: 17 / 39.7Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CKS2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
CKS2 Overexpression Correlates with Prognosis and Immune Cell Infiltration in Lung Adenocarcinoma: A Comprehensive Study based on Bioinformatics and Experiments
Wang Z et al.·J Cancer
2021
Expression of CKS2 in Hepatocellular Carcinoma: Correlation with Survival Outcomes and Immune Microenvironment
Zhi R et al.·J Hepatocell Carcinoma
2023
Comprehensive Expression Profiling and Molecular Basis of CDC28 Protein Kinase Regulatory Subunit 2 in Cervical Cancer
Qin L et al.·Int J Genomics
2022
Clinicopathological value of the upregulation of cyclin-dependent kinases regulatory subunit 2 in osteosarcoma
Mo C et al.·BMC Med Genomics
2022
Expression Profile and Molecular Basis of Cyclin-Dependent Kinases Regulatory Subunit 2 in Endometrial Carcinoma Detected by Diversified Methods
Gao L et al.·Pathol Oncol Res
2022
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients