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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
JMJD1C
jumonji domain containing 1C
Chromosome 10 Β· 10q21.3
NCBI Gene: 221037Ensembl: ENSG00000171988.20HGNC: HGNC:12313UniProt: B7ZLC8
143PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
histone H3K9 demethylase activityprotein bindingprotein demethylase activitynucleusatrial fibrillationintelligencehypertensiontype 2 diabetes mellitus
✦AI Summary

JMJD1C is a histone demethylase belonging to the KDM3 family with both catalytic and non-catalytic functions critical for multiple biological processes. As a histone H3K9 demethylase, JMJD1C regulates chr10 remodeling and gene expression 1. Beyond its canonical demethylase activity, JMJD1C demethylates non-histone substrates, particularly STAT3 at lysine 140, to restrain plasma cell differentiation and prevent rheumatoid arthritis development 2. JMJD1C is essential for tumor regulatory T cell fitness through H3K9me2 demethylation and STAT3 signaling, making it a selective therapeutic target for enhancing antitumor immunity without systemic autoimmunity 3. In acute myeloid leukemia, JMJD1C forms biomolecular condensates and interacts with transcription factor RUNX1 to facilitate leukemic survival programs 4. JMJD1C is genotype-specifically required for IDH2- and TET2-mutant hematopoietic stem cell fitness 5 and regulates megakaryopoiesis through actin network modulation 6. Additionally, JMJD1C participates in renal epithelial-mesenchymal transition in diabetic kidney disease through SP1/ZEB1 signaling 7. Genomic studies implicate JMJD1C as a target of endocrine disruptors influencing estrogen receptor-positive breast cancer risk 8.

Sources cited
1
JMJD1C is a histone H3K9 demethylase essential for tumor Treg cell fitness; JMJD1C inhibition enhances antitumor immunity without affecting systemic immune homeostasis
PMID: 38356061
2
JMJD1C demethylates STAT3 at lysine 140 (non-histone substrate) to restrain plasma cell differentiation and protect from rheumatoid arthritis
PMID: 35995859
3
JMJD1C participates in diabetic kidney disease epithelial-mesenchymal transition through JMJD1C/SP1/ZEB1 signaling pathway
PMID: 39541663
4
JMJD1C loss specifically reduces fitness of IDH2- and TET2-mutant hematopoietic stem and progenitor cells
PMID: 38819218
5
JMJD1C forms biomolecular condensates and interacts with RUNX1 transcription factor through its N-terminal disordered region to regulate AML survival programs
PMID: 39450904
6
JMJD1C is among genes showing strong evidence of colocalization with estrogen receptor-positive breast cancer risk and target of endocrine disruptors
PMID: 40576180
7
JMJD1C regulates megakaryopoiesis through actin network modulation and interacts with Ran GTPase
PMID: 36429088
8
JMJD1C is a histone H3K9 demethylase expressed in undifferentiated embryonic stem cells, pancreatic islet, and gastric cancer; expression regulated by POU5F1
PMID: 17549425
Disease Associationsβ“˜20
atrial fibrillationOpen Targets
0.46Moderate
intelligenceOpen Targets
0.44Moderate
hypertensionOpen Targets
0.42Moderate
type 2 diabetes mellitusOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.38Weak
autism spectrum disorderOpen Targets
0.38Weak
goutOpen Targets
0.38Weak
22q11.2 deletion syndromeOpen Targets
0.37Weak
cholelithiasisOpen Targets
0.36Weak
substance-related disorderOpen Targets
0.34Weak
hemorrhagic diseaseOpen Targets
0.34Weak
gallstonesOpen Targets
0.34Weak
testicular diseaseOpen Targets
0.34Weak
thrombocytopenia 4Open Targets
0.31Weak
mathematical abilityOpen Targets
0.31Weak
optic atrophyOpen Targets
0.30Weak
ovarian neoplasmOpen Targets
0.30Weak
nicotine dependenceOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.30Weak
Pathogenic Variants4
NM_032776.3(JMJD1C):c.326del (p.Pro109fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 109
NM_032776.3(JMJD1C):c.5863-6T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2019
NM_032776.3(JMJD1C):c.1100T>C (p.Leu367Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 367
NM_032776.3(JMJD1C):c.3167_3207del (p.Ser1056fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 1056
View on ClinVar β†—
Related Genes
KDM4AProtein interaction95%KDM4BProtein interaction95%REEP3Protein interaction90%THRBProtein interaction81%H3-3BProtein interaction77%H3C12Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
27%
Ovary
25%
Lung
25%
Liver
18%
Brain
16%
Gene Interaction Network
Click a node to explore
JMJD1CKDM4AKDM4BREEP3THRBH3-3BH3C12
PROTEIN STRUCTURE
Preparing viewer…
PDB9GDK Β· 1.78 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.08–0.16]
RankingsWhere JMJD1C stands among ~20K protein-coding genes
  • #3,198of 20,598
    Most Researched143 Β· top quartile
  • #3,718of 5,498
    Most Pathogenic Variants4
  • #236of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedJMJD1C
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targeting JMJD1C to selectively disrupt tumor T
PMID: 38356061
Nat Immunol Β· 2024
1.00
2
Jmjd1c demethylates STAT3 to restrain plasma cell differentiation and rheumatoid arthritis.
PMID: 35995859
Nat Immunol Β· 2022
0.90
3
Jia Wei Qingxin Lotus Seed Drink ameliorates epithelial mesenchymal transition injury in diabetic kidney disease via inhibition of JMJD1C/SP1/ZEB1 signaling pathway.
PMID: 39541663
Phytomedicine Β· 2024
0.80
4
CRISPR Dependency Screens in Primary Hematopoietic Stem Cells Identify KDM3B as a Genotype-specific Vulnerability in IDH2- and TET2-mutant Cells.
PMID: 38819218
Cancer Discov Β· 2024
0.70
5
JMJD1C forms condensate to facilitate a RUNX1-dependent gene expression program shared by multiple types of AML cells.
PMID: 39450904
Protein Cell Β· 2025
0.60