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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHTF8
chromosome transmission fidelity factor 8
Chromosome 16 · 16q22.1
NCBI Gene: 54921Ensembl: ENSG00000168802.14HGNC: HGNC:24353UniProt: P0CG13
46PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA clamp loader activitysingle-stranded DNA helicase activityprotein bindingpositive regulation of DNA-directed DNA polymerase activityneurodegenerative diseasechondromalaciachronic obstructive pulmonary diseaseAbnormality of the skeletal system
✦AI Summary

CHTF8 (chromosome 16 fidelity factor 8) is a nuclear protein component of the CTF18-replication factor C (CTF18-RFC) complex, which functions as an alternative PCNA loader involved in sister chr16 cohesion and chromosome 16 fidelity 1. The CTF18-RFC complex, comprising seven subunits including CHTF8, binds single-stranded and primed DNAs and catalyzes ATP-dependent loading of PCNA onto primed and gapped DNA to coordinate DNA replication with cohesion establishment 2. CHTF8 specifically mediates stable interaction between CTF18-RFC and DNA polymerase ε through its participation in a trimeric 18-1-8 complex with CTF18 and DCC1, thereby modulating DNA synthesis to support replication fork progression coupled with cohesion 3. Beyond its core replication functions, CHTF8 has emerging clinical relevance: it represents a genetic risk locus for keratoconus in Chinese populations 4, and elevated CHTF8 expression combined with decreased miR-23a-5p shows diagnostic and prognostic value as a biomarker for placenta accreta spectrum disorders and adverse pregnancy outcomes 5. These findings suggest CHTF8's role extends beyond chromosome 16 to broader cellular processes affecting tissue integrity and development.

Sources cited
1
CHTF8 is a component of the human CTF18-RFC complex involved in sister chromatid cohesion establishment and interacts with PCNA
PMID: 12766176
2
CTF18-RFC complex containing CHTF8 catalyzes ATP-dependent PCNA loading onto primed and gapped DNA and coordinates replication with cohesion
PMID: 12930902
3
CHTF8 mediates stable binding between CTF18-RFC and DNA polymerase ε as part of a trimeric complex (18-1-8) that modulates DNA synthesis
PMID: 20826785
4
CHTF8 variant rs3743680 is associated with keratoconus susceptibility in Chinese populations
PMID: 38767907
5
CHTF8 is a target gene of miR-23a-5p and elevated CHTF8 combined with decreased miR-23a-5p serves as a biomarker for placenta accreta spectrum
PMID: 39549433
Disease Associationsⓘ18
neurodegenerative diseaseOpen Targets
0.28Weak
chondromalaciaOpen Targets
0.26Weak
chronic obstructive pulmonary diseaseOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
basal cell carcinomaOpen Targets
0.03Suggestive
non-melanoma skin carcinomaOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
dry eye syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
gonorrheaOpen Targets
0.00Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DDX11Protein interaction100%RFC3Protein interaction100%SMC3Protein interaction100%WAPLProtein interaction100%RAD17Protein interaction100%ATAD5Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
70%
Lung
67%
Ovary
60%
Heart
59%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
CHTF8DDX11RFC3SMC3WAPLRAD17ATAD5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P0CG13
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.53 [0.29–1.05]
RankingsWhere CHTF8 stands among ~20K protein-coding genes
  • #9,311of 20,598
    Most Researched46
  • #10,449of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedCHTF8
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study.
PMID: 38767907
Invest Ophthalmol Vis Sci · 2024
1.00
2
Transcriptomic analysis identified novel biomarker in invasive placenta accreta spectrum.
PMID: 39549433
Placenta · 2024
0.83
3
A human novel gene DERPC on 16q22.1 inhibits prostate tumor cell growth and its expression is decreased in prostate and renal tumors.
PMID: 12477976
Mol Med · 2002
0.67
4
Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment.
PMID: 12766176
J Biol Chem · 2003
0.50
5
Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8.
PMID: 20826785
J Biol Chem · 2010
0.33