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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CENPH
centromere protein H
Chromosome 5 · 5q13.2
NCBI Gene: 64946Ensembl: ENSG00000153044.11HGNC: HGNC:17268UniProt: A0A0S2Z5T0
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingkinetochore bindingkinetochorenucleusneurodegenerative diseaselung adenocarcinomacolorectal carcinomabreast cancer
✦AI Summary

CENPH (centromere protein H) is an essential kinetochore component that plays a central role in chromosome 5 and mitotic progression 1. As part of the CENPA-NAC complex, CENPH functions in kinetochore assembly, chromosome 5, and alignment of chr5 on the metaphase plate, thereby ensuring proper chromosome 5 during cell division. CENPH's involvement in cell cycle regulation and proliferation has significant disease implications. Mutations in CENPH are associated with oocyte and early embryo competence defects, representing a newly recognized genetic cause of female infertility 1. In cancer contexts, CENPH is consistently upregulated across multiple malignancies. In renal cell carcinoma, elevated CENPH expression correlates with tumor grade, metastasis, and clinical stage, serving as an independent predictor of overall survival 2. Similarly, CENPH expression associates with radiation resistance in colorectal cancer and is linked to poor immunotherapy response in non-small cell lung cancer 3, 4. CENPH is also implicated in lung adenocarcinoma pathologic progression and kidney renal papillary carcinoma aggressiveness 5, 6. Clinically, CENPH represents a potential biomarker and therapeutic target for cancer prognosis and treatment selection. Its transcriptional regulation involves Sp1/Sp3 transcription factors 7, suggesting potential druggability through pathway modulation.

Sources cited
1
CENPH identified as potentially causative gene for oocyte and early embryo competence defects in female infertility
PMID: 41102564
2
CENPH upregulation in renal cell carcinoma correlates with Fuhrman grade, metastasis, clinical stage, and serves as independent predictor of overall survival
PMID: 26248586
3
CENPH is one of four key genes correlated with radiation sensitivity and tumor repopulation in colorectal cancer
PMID: 37328854
4
CENPH-derived lncRNAs (lnc-CENPH-1, lnc-CENPH-2) regulate CCNB1 and may represent biomarkers of poor immunotherapy efficacy in NSCLC
PMID: 36801676
5
CENPH transcription is regulated by Sp1 and Sp3 transcription factors binding to its promoter
PMID: 22682030
6
CENPH identified as gene associated with pathologic stages of lung adenocarcinoma and involved in p53, cell cycle, and DNA replication signaling pathways
PMID: 31731374
7
CENPH identified as potential target mRNA regulated by SNHG6 in kidney renal papillary cell carcinoma progression
PMID: 37004005
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
lung adenocarcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
tongue cancerOpen Targets
0.08Suggestive
esophageal carcinomaOpen Targets
0.08Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
Partial congenital cataractOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
isolated ectopia lentisOpen Targets
0.06Suggestive
early-onset nuclear cataractOpen Targets
0.06Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.06Suggestive
early-onset zonular cataractOpen Targets
0.05Suggestive
Posterior polar cataractOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
skin diseaseOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CENPAProtein interaction100%CENPIProtein interaction100%TRAProtein interaction100%OIP5Protein interaction100%ITGB3BPProtein interaction100%CENPQProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
67%
Heart
11%
Ovary
10%
Lung
7%
Liver
4%
Gene Interaction Network
Click a node to explore
CENPHCENPACENPITRAOIP5ITGB3BPCENPQ
PROTEIN STRUCTURE
Preparing viewer…
PDB7PB4 · 2.49 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.76 [0.70–1.94]
RankingsWhere CENPH stands among ~20K protein-coding genes
  • #6,886of 20,598
    Most Researched68
  • #17,623of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedCENPH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility.
PMID: 41102564
Nat Med · 2026
1.00
2
TFRC-RNA interactions show the regulation of gene expression and alternative splicing associated with IgAN in human renal tubule mesangial cells.
PMID: 37547464
Front Genet · 2023
0.90
3
Upregulation of centromere protein H is associated with progression of renal cell carcinoma.
PMID: 26248586
J Mol Histol · 2015
0.80
4
The predictive value of plasma exosomal lncRNAs/mRNAs in NSCLC patients receiving immunotherapy.
PMID: 36801676
Adv Med Sci · 2023
0.70
5
Predicting tumor repopulation through the gene panel derived from radiation resistant colorectal cancer cells.
PMID: 37328854
J Transl Med · 2023
0.60