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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KDM5D
lysine demethylase 5D
Chromosome Y · Yq11.223
NCBI Gene: 8284Ensembl: ENSG00000012817.17HGNC: HGNC:11115UniProt: A0A384MR42
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnuclear androgen receptor bindingregulation of androgen receptor signaling pathwayhistone H3K4 demethylase activityneoplasmposterior cortical atrophyhead and neck squamous cell carcinomaamyotrophic lateral sclerosis
✦AI Summary

KDM5D is a Y-chrY-encoded histone H3 lysine-4 (H3K4) demethylase that plays critical roles in chrY regulation and cancer biology 12. The enzyme specifically removes di- and trimethyl marks from H3K4, thereby modulating gene transcription through chrY remodeling 3. KDM5D exhibits context-dependent tumor suppressor and oncogenic functions. In colorectal cancer, KRAS-STAT4-mediated KDM5D upregulation promotes male-specific metastases by disrupting epithelial tight junctions and impairing immune surveillance 1. Conversely, in lung cancer, KDM5D acts as a tumor suppressor by demethylating p38α kinase at K165, preventing its phosphorylation and activation, which correlates with improved patient survival 2. KDM5D also regulates sex-biased gene expression in embryonic stem cells, where it promotes male-specific transcriptional patterns in cooperation with its X-linked homolog KDM5C 4. In prostate cancer, KDM5D loss leads to increased MYBL2 expression and treatment resistance 5. The protein demonstrates tissue-specific functions in renal cell carcinoma, where KDM5C and KDM5D mutations have distinct phenotypic consequences 6. Additionally, KDM5D shows potential as a biomarker for traumatic brain injury diagnosis 7.

Sources cited
1
KDM5D upregulation in colorectal cancer promotes male-specific metastases through KRAS-STAT4 signaling and disruption of tight junctions and immunity
PMID: 37344599
2
KDM5D acts as tumor suppressor in lung cancer by demethylating p38α at K165 and inhibiting its phosphorylation
PMID: 39636854
3
KDM5D functions as H3K4 demethylase in chromatin remodeling complexes
PMID: 36890610
4
KDM5D regulates sex-biased gene expression in embryonic stem cells in cooperation with KDM5C
PMID: 39484414
5
KDM5D loss in prostate cancer leads to increased MYBL2 expression and treatment resistance
PMID: 36087093
6
KDM5C and KDM5D have distinct functions in renal cell carcinoma
PMID: 39955388
7
KDM5D shows potential as biomarker for traumatic brain injury
PMID: 40196131
Disease Associationsⓘ20
neoplasmOpen Targets
0.10Suggestive
posterior cortical atrophyOpen Targets
0.09Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
amyotrophic lateral sclerosisOpen Targets
0.07Suggestive
ataxia telangiectasiaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
breast carcinomaOpen Targets
0.05Suggestive
multiple sclerosisOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
squamous cell carcinomaOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
pachyonychia congenitaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPS4Y1Protein interaction100%USP9YProtein interaction100%ATP5F1AProtein interaction100%ATP5PDProtein interaction100%ATP5POProtein interaction100%ATP5PBProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Liver
81%
Bone Marrow
72%
Heart
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
KDM5DRPS4Y1USP9YATP5F1AATP5PDATP5POATP5PB
PROTEIN STRUCTURE
Preparing viewer…
PDB2E6R · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.57–1.09]
RankingsWhere KDM5D stands among ~20K protein-coding genes
  • #9,472of 20,598
    Most Researched45
  • #11,151of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedKDM5D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Histone demethylase KDM5D upregulation drives sex differences in colon cancer.
PMID: 37344599
Nature · 2023
1.00
2
KDM5D histone demethylase mediates p38α inactivation via its enzymatic activity to inhibit cancer progression.
PMID: 39636854
Proc Natl Acad Sci U S A · 2024
0.90
3
KDM5C and KDM5D mutations have different consequences in clear cell renal cell carcinoma cells.
PMID: 39955388
Commun Biol · 2025
0.80
4
Discovery of KDM5D as a novel biomarker for traumatic brain injury identified through bioinformatics analysis.
PMID: 40196131
Front Immunol · 2025
0.70
5
Regulation of Sex-biased Gene Expression by the Ancestral X-Y Chromosomal Gene Pair
PMID: 39484414
bioRxiv · 2024
0.60