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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CENPX
centromere protein X
Chromosome 17 · 17q25.3
NCBI Gene: 201254Ensembl: ENSG00000169689.15HGNC: HGNC:11422UniProt: A8MT69
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
double-stranded DNA bindingprotein bindingchromatinresolution of meiotic recombination intermediatestype 2 diabetes mellitushair colorintellectual developmental disorder, X-linked 110Huntington disease
✦AI Summary

CENPX (centromere protein X) is a DNA-binding protein that functions in two major cellular complexes critical for genome stability. As a component of the Fanconi anemia (FA) core complex, CENPX is required for normal FA pathway activation, leading to monoubiquitination of FANCI-FANCD2 in response to DNA damage and providing cellular resistance to DNA cross-linking drugs 1. In complex with CENPS (forming the MHF heterodimer), CENPX serves as a crucial cofactor for FANCM in both DNA binding and ATP-dependent remodeling, stabilizing FANCM and promoting gene conversion at blocked replication forks 2. Additionally, CENPX participates in kinetochore function as part of the CENP-T-W-S-X heterotetramer, which is essential for kinetochore-microtubule attachment and faithful mitotic progression. CENPX recruitment to DNA double-strand breaks occurs rapidly (~100 seconds) and is maintained during chr17 remodeling phases of DNA repair 2. The protein exhibits preference for binding Holliday junctions over other DNA substrates but requires CENPS for DNA-binding activity. Disease relevance includes potential roles in cancer, where CENPX shows altered expression patterns in various tumor types and has been identified as a potential therapeutic target in type 2 diabetes mellitus 3.

Sources cited
1
CENPX is part of the FA signaling network and responds to cellular DNA damage
PMID: 39421870
2
CENPX is recruited to DNA double-strand breaks with specific kinetics and functions in chromatin remodeling
PMID: 40450933
3
CENPX silencing ameliorates hyperglycemia in diabetes models through insulin pathway activation
PMID: 31417608
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.07Suggestive
hair colorOpen Targets
0.05Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
Huntington diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
hypothyroidismOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
HyperglycemiaOpen Targets
0.02Suggestive
Fanconi anemiaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Friedreich ataxiaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
diabetic cardiomyopathyOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
AutoimmunityOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CORTProtein interaction100%FANCCProtein interaction100%FANCD2Protein interaction100%FANCEProtein interaction100%FANCBProtein interaction100%FANCFProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
60%
Brain
45%
Lung
38%
Ovary
32%
Heart
19%
Gene Interaction Network
Click a node to explore
CENPXCORTFANCCFANCD2FANCEFANCBFANCF
PROTEIN STRUCTURE
Preparing viewer…
PDB4NE3 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.66LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.69–1.66]
RankingsWhere CENPX stands among ~20K protein-coding genes
  • #11,878of 20,598
    Most Researched30
  • #15,953of 17,882
    Most Constrained (LOEUF)1.66
Genes detectedCENPX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Somatic gene mutations involved in DNA damage response/Fanconi anemia signaling are tissue- and cell-type specific in human solid tumors.
PMID: 39421870
Front Med (Lausanne) · 2024
1.00
2
Dynamics of chromatin factors RSF1, CENPS and CENPX at DNA damage sites.
PMID: 40450933
DNA Repair (Amst) · 2025
0.90
3
Comprehensive Analysis of Centromere Protein Family Member Genes in Lung Adenocarcinoma.
PMID: 35695666
Crit Rev Eukaryot Gene Expr · 2022
0.80
4
Therapeutic Silencing of Centromere Protein X Ameliorates Hyperglycemia in Zebrafish and Mouse Models of Type 2 Diabetes Mellitus.
PMID: 31417608
Front Genet · 2019
0.70
5
Stage-specific phenotypic and transcriptional alterations in HaCaT keratinocytes exposed to acute and chronic blue light.
PMID: 40191980
Photochem Photobiol · 2025
0.60