CHTF18 Gene

HGNC Family	ATPases
Name	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
Description	This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CHTF18 is an evolutionarily conserved subunit of a Replication Factor C–like complex (CTF18‐RLC) that plays a pivotal role in linking DNA replication to the establishment of sister chromatid cohesion and, thereby, in maintaining genome integrity. Studies in human cells have shown that CHTF18 assembles together with CTF8, DCC1, and the RFC small subunits into a multisubunit complex that can bind to primed and gapped DNA, promote PCNA loading, and modulate DNA polymerase activity during replication (1,2). In addition to its role in normal DNA synthesis, CHTF18 also participates in the replication stress response by forming complexes with single‐stranded DNA–binding proteins at stalled forks to facilitate checkpoint activation and preserve fork stability (6). Somatic mutations in CHTF18 have been identified in certain tumors, suggesting that its deregulation may contribute to genome instability in cancer (3). In the context of gametogenesis, loss of CHTF18 function in mouse models results in defective meiotic recombination characterized by delayed repair of double‐strand breaks, reduced crossover formation, and premature homolog separation, which in turn leads to impaired spermatogenesis and subfertility in males as well as compromised oocyte development and increased aneuploidy in females (4,5). Collectively, these findings underscore the critical function of CHTF18 in coordinating the processes of DNA replication, repair, and cohesion establishment to safeguard chromosomal integrity, with important implications for both developmental biology and cancer."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Vladimir P Bermudez, Yoshimasa Maniwa, Inger Tappin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1434308100"}], "href": "https://doi.org/10.1073/pnas.1434308100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12930902"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12930902"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Carolin J Merkle, Larry M Karnitz, John T Henry-Sánchez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M211591200"}], "href": "https://doi.org/10.1074/jbc.M211591200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12766176"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12766176"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jessica C Price, Lana M Pollock, Meghan L Rudd, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0063313"}], "href": "https://doi.org/10.1371/journal.pone.0063313"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23755103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23755103"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Karen M Berkowitz, Aislinn R Sowash, Lydia R Koenig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of CHTF18 causes defective meiotic recombination in male mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1002996"}], "href": "https://doi.org/10.1371/journal.pgen.1002996"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23133398"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23133398"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Rebecca A Holton, Abigail M Harris, Barenya Mukerji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHTF18 ensures the quantity and quality of the ovarian reserve†."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Reprod (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/biolre/ioaa036"}], "href": "https://doi.org/10.1093/biolre/ioaa036"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32219340"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32219340"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yuta Kaneko, Hiroaki Daitoku, Chihiro Komeno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CTF18 interacts with replication protein A in response to replication stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2016.5262"}], "href": "https://doi.org/10.3892/mmr.2016.5262"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27175616"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27175616"}]}]}]}
Synonyms	C16ORF41, C321D2.3, RUVBL, C321D2.2, C321D2.4, CHL12, CTF18
Proteins	CTF18_HUMAN
NCBI Gene ID	63922
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CHTF18 has 5,895 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 113 datasets.

Click the + buttons to view associations for CHTF18 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CHTF18 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHTF18 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHTF18 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CHTF18 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CHTF18 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CHTF18 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHTF18 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CHTF18 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CHTF18 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHTF18 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CHTF18 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CHTF18 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHTF18 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CHTF18 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CHTF18 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of CHTF18 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CHTF18 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CHTF18 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CHTF18 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CHTF18 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CHTF18 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing CHTF18 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHTF18 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CHTF18 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CHTF18 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CHTF18 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CHTF18 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CHTF18 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CHTF18 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CHTF18 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CHTF18 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CHTF18 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CHTF18 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHTF18 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CHTF18 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CHTF18 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with CHTF18 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing CHTF18 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of CHTF18 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of CHTF18 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of CHTF18 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.