JMJD1C Gene

Name	jumonji domain containing 1C
Description	The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n JMJD1C is a histone demethylase with multifaceted functions in transcriptional regulation, cellular metabolism, genome integrity, and cell‐fate determination. Variants in the JMJD1C locus have been associated with liver enzyme levels, platelet function, and testosterone in population studies, hinting at roles in metabolic and cardiovascular regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the context of leukemia, JMJD1C has emerged as a critical mediator of oncogenic transcriptional programs. Functional studies in MLL-rearranged and HOXA9-driven acute leukemias demonstrate that JMJD1C interacts with key transcription factors—such as HOXA9 and RUNX1-RUNX1T1—to maintain low levels of repressive H3K9 methylation on target genes. Its depletion impairs leukemic cell growth, induces differentiation and apoptosis, and reduces leukemia stem cell frequency while sparing normal hematopoietic stem cells."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond oncogenesis, JMJD1C plays a role in the DNA damage response by demethylating MDC1, which enhances the interaction between MDC1 and ubiquitin ligase RNF8 to promote the recruitment of RAP80–BRCA1 repair complexes, thereby contributing to genome maintenance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n JMJD1C also regulates metabolic processes. In the liver, upon feeding and insulin stimulation, phosphorylation of JMJD1C by mTOR complex facilitates its interaction with USF-1, leading to demethylation of H3K9me2 at lipogenic gene promoters, enhanced chromatin accessibility, and increased triglyceride synthesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " In addition, JMJD1C-driven metabolic reprogramming in certain acute myeloid leukemias sustains both glycolytic and oxidative pathways, thereby supporting an aggressive tumor energy phenotype."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In stem cell contexts, JMJD1C is essential for maintaining pluripotency. It sustains miR-302 expression and restrains neural differentiation in human embryonic stem cells, with its depletion predisposing cells to neuronal differentiation upon removal of exogenous growth factors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, mutations in JMJD1C have been implicated in neurodevelopmental disorders such as Rett syndrome and intellectual disability. Altered subcellular localization and diminished demethylase activity toward proteins like MDC1, along with reduced capacity to interact with critical factors (e.g., MECP2), underscore its role in neuronal development and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Moreover, genetic studies also suggest that defects in histone demethylation genes including JMJD1C can contribute to congenital heart disease risk."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies position JMJD1C as a central epigenetic regulator whose demethylase activity and protein–protein interactions influence oncogenic transcription, DNA repair, metabolic adaptation, and stem cell fate—all of which contribute to its emerging role in human disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xin Yuan, Dawn Waterworth, John R B Perry, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2008.09.012"}], "href": "https://doi.org/10.1016/j.ajhg.2008.09.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18940312"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18940312"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Andrew D Johnson, Lisa R Yanek, Ming-Huei Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.604"}], "href": "https://doi.org/10.1038/ng.604"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20526338"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20526338"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "C Mary Schooling, Shan Luo, Shiu Lun Au Yeung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic predictors of testosterone and their associations with cardiovascular disease and risk factors: A Mendelian randomization investigation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cardiol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijcard.2018.05.051"}], "href": "https://doi.org/10.1016/j.ijcard.2018.05.051"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29804699"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29804699"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Patrycja Sroczynska, V Adam Cruickshank, John-Paul Bukowski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "shRNA screening identifies JMJD1C as being required for leukemia maintenance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2013-08-522094"}], "href": "https://doi.org/10.1182/blood-2013-08-522094"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24501218"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24501218"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Nan Zhu, Mo Chen, Rowena Eng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MLL-AF9- and HOXA9-mediated acute myeloid leukemia stem cell self-renewal requires JMJD1C."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI82978"}], "href": "https://doi.org/10.1172/JCI82978"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26878175"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26878175"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mo Chen, Nan Zhu, Xiaochuan Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "JMJD1C is required for the survival of acute myeloid leukemia by functioning as a coactivator for key transcription factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.267278.115"}], "href": "https://doi.org/10.1101/gad.267278.115"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26494788"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26494788"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Sugiko Watanabe, Kenji Watanabe, Vyacheslav Akimov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "JMJD1C demethylates MDC1 to regulate the RNF8 and BRCA1-mediated chromatin response to DNA breaks."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Struct Mol Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nsmb.2702"}], "href": "https://doi.org/10.1038/nsmb.2702"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24240613"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24240613"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jose A Viscarra, Yuhui Wang, Hai P Nguyen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Histone demethylase JMJD1C is phosphorylated by mTOR to activate de novo lipogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-020-14617-1"}], "href": "https://doi.org/10.1038/s41467-020-14617-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32034158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32034158"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jennifer R Lynch, Basit Salik, Patrick Connerty, et al. "}, {"type": "b", "children": [{"type": "t", "text": "JMJD1C-mediated metabolic dysregulation contributes to HOXA9-dependent leukemogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Leukemia (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41375-018-0354-z"}], "href": "https://doi.org/10.1038/s41375-018-0354-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30622285"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30622285"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Jianle Wang, Jung W Park, Hicham Drissi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epigenetic regulation of miR-302 by JMJD1C inhibits neural differentiation of human embryonic stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.535799"}], "href": "https://doi.org/10.1074/jbc.M113.535799"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24318875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24318875"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Mauricio A Sáez, Juana Fernández-Rodríguez, Catia Moutinho, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in JMJD1C are involved in Rett syndrome and intellectual disability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gim.2015.100"}], "href": "https://doi.org/10.1038/gim.2015.100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26181491"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26181491"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Tingwei Guo, Jonathan H Chung, Tao Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2015.10.013"}], "href": "https://doi.org/10.1016/j.ajhg.2015.10.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26608785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26608785"}]}]}]}
Synonyms	TRIP-8, TRIP8, KDM3C
Proteins	JHD2C_HUMAN
NCBI Gene ID	221037
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

JMJD1C has 14,331 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 123 datasets.

Click the + buttons to view associations for JMJD1C from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

JMJD1C Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by JMJD1C gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of JMJD1C 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 JMJD1C 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 JMJD1C 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 JMJD1C 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 JMJD1C 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 JMJD1C gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of JMJD1C gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of JMJD1C 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 JMJD1C 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 JMJD1C 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 JMJD1C gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with JMJD1C protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with JMJD1C gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of JMJD1C gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of JMJD1C 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 JMJD1C gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with JMJD1C gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of JMJD1C gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing JMJD1C protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing JMJD1C protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with JMJD1C 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 JMJD1C protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of JMJD1C gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with JMJD1C gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with JMJD1C gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with JMJD1C gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with JMJD1C gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by JMJD1C gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with JMJD1C gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with JMJD1C 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 JMJD1C 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 JMJD1C 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 JMJD1C gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with JMJD1C 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 JMJD1C 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 JMJD1C gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of JMJD1C 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 JMJD1C from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with JMJD1C gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.