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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KDM8
lysine demethylase 8
Chromosome 16 · 16p12.1
NCBI Gene: 79831Ensembl: ENSG00000155666.13HGNC: HGNC:25840UniProt: A0A0S2Z5P8
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ProteaseTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptionnucleusaminopeptidase activityendopeptidase activityneurodegenerative diseasefacial nerve diseaseCoffin-Siris syndromeatopic eczema
✦AI Summary

KDM8 (lysine demethylase 8) is a bifunctional histone-modifying enzyme that plays crucial roles in cell cycle regulation, metabolism, and cancer progression. As a histone H3K36me2 demethylase, KDM8 functions as a transcriptional activator by preventing HDAC recruitment and directly regulates cyclin A1 expression in the coding region, which is essential for cell cycle progression 1. The enzyme also acts as an endopeptidase that cleaves histone N-terminal tails at methylated residues, generating 'tailless nucleosomes' that may facilitate transcription elongation. In cancer contexts, KDM8 demonstrates oncogenic properties through multiple mechanisms. In prostate cancer, it serves as a dual coactivator of androgen receptor (AR) and PKM2, promoting castration resistance by elevating androgen response genes and facilitating PKM2 nuclear translocation for metabolic reprogramming 2. KDM8 also partners with PKM2 to enhance HIF1α-mediated transactivation, particularly in breast cancer cells with PKM2 exon-10 mutations 3. Beyond cancer, KDM8 plays protective roles in cardiac metabolism by repressing TBX15 to maintain mitochondrial gene networks, preventing dilated cardiomyopathy 4. Additionally, KDM8 regulates autophagy through BECN1 dimethylation, with ADSL-produced fumarate reducing KDM8 activity to promote autophagy in liver tumors 5. Clinical significance is evident as KDM8 is overexpressed in multiple cancer types and downregulated in hepatocellular carcinoma due to CpG hypermethylation 6.

Sources cited
1
KDM8 demethylates H3K36me2, functions as transcriptional activator by preventing HDAC recruitment, and directly regulates cyclin A1 expression for cell cycle progression
PMID: 20457893
2
KDM8 serves as dual coactivator of AR and PKM2 in prostate cancer, promoting castration resistance and metabolic reprogramming
PMID: 30072740
3
PKM2 exon-10 mutations increase interaction with KDM8 and enhance HIF1α-mediated transactivation in breast cancer
PMID: 30911680
4
KDM8 maintains cardiac metabolism by repressing TBX15 and preventing dilated cardiomyopathy
PMID: 38665902
5
ADSL-produced fumarate reduces KDM8 activity leading to BECN1 dimethylation and autophagy promotion in liver tumors
PMID: 40103200
6
KDM8 is downregulated in hepatocellular carcinoma due to CpG hypermethylation, serving as potential biomarker
PMID: 39072393
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
facial nerve diseaseOpen Targets
0.23Weak
Coffin-Siris syndromeOpen Targets
0.15Weak
atopic eczemaOpen Targets
0.10Suggestive
Patent ductus arteriosusOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
asthmaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
dilated cardiomyopathyOpen Targets
0.07Suggestive
ocular hypotensionOpen Targets
0.05Suggestive
oral squamous cell carcinomaOpen Targets
0.05Suggestive
posterior cortical atrophyOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
heart failureOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.03Suggestive
Spina bifida - hypospadiasOpen Targets
0.03Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RCCD1Protein interaction91%RPS6Protein interaction78%KDM4FShared pathway40%KDM4EShared pathway40%PRDM6Shared pathway40%PRDM13Shared pathway40%
Tissue Expression6 tissues
Liver
100%
Ovary
6%
Heart
5%
Lung
4%
Brain
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
KDM8RCCD1RPS6KDM4FKDM4EPRDM6PRDM13
PROTEIN STRUCTURE
Preparing viewer…
PDB4GJZ · 1.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.54–0.93]
RankingsWhere KDM8 stands among ~20K protein-coding genes
  • #9,091of 20,598
    Most Researched48
  • #8,587of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedKDM8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Deciphering
PMID: 39072393
Epigenomics · 2024
1.00
2
KDM8/JMJD5 as a dual coactivator of AR and PKM2 integrates AR/EZH2 network and tumor metabolism in CRPC.
PMID: 30072740
Oncogene · 2019
0.90
3
KDM8 epigenetically controls cardiac metabolism to prevent initiation of dilated cardiomyopathy.
PMID: 38665902
Nat Cardiovasc Res · 2023
0.80
4
ADSL-produced fumarate increases BECN1 dimethylation to promote autophagy and liver tumor growth.
PMID: 40103200
Autophagy · 2025
0.70
5
Coding-noncoding gene expression in intrahepatic cholangiocarcinoma.
PMID: 26297049
Transl Res · 2016
0.60