KDM4E
Lysine Demethylase 4E
Gene Information Card
| Symbol | KDM4E |
|---|---|
| Full Name | Lysine Demethylase 4E |
| Gene Type | Protein coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 390245 ncbi.nlm.nih.gov/gene/390245 |
| Ensembl ID | ENSG00000203812 |
| UniProt ID | Q6B0I6 |
| OMIM ID | 609765 |
| HGNC ID | 29385 |
| Aliases | JMJD2E, KIAA1718 |
Description
KDM4E (lysine demethylase 4E) is a protein-coding gene that encodes a histone demethylase specific for di- and tri-methylated lysine 9 of histone H3 (H3K9me2/me3). It belongs to the Jumonji domain 2 (JMJD2) family and plays a role in chromatin regulation, transcriptional repression, and DNA repair. KDM4E is located on chromosome 11q21 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or amplification of KDM4E may lead to aberrant demethylation of H3K9me3, promoting oncogenic transcription and genomic instability. | COSMIC; literature |
| Prostate cancer | KDM4E upregulation is associated with androgen receptor signaling and tumor progression. | PubMed; COSMIC |
| Breast cancer | KDM4E overexpression correlates with poor prognosis and may drive metastasis via H3K9 demethylation. | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 10.8 | Low expression |
| MCF7 | 7.5 | Low expression |
| A549 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown functional effect |
| c.1789C>T (p.Arg597Trp) | Missense | <0.01% | Unknown functional effect |
| Amplification | Copy number gain | Variable | Potential gain of function in cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Amplification events in cancer may lead to increased demethylase activity.
Dominant Negative (DN)
No dominant negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • histone H3K9 demethylase activity (GO:0032453) | • histone H3K9me3 demethylation (GO:0033169) |
| • chromatin remodeling (GO:0006338) |
Pathways
• Chromatin organization
• Histone demethylation
• Transcriptional regulation by KDM4 family
Protein Summary
KDM4E is a histone demethylase that specifically removes methyl groups from di- and tri-methylated lysine 9 on histone H3 (H3K9me2/me3). It localizes to the nucleus and is involved in chromatin remodeling, transcriptional repression, and DNA damage response. The protein contains a JmjC domain responsible for demethylase activity and a Tudor domain that may recognize methylated histones. KDM4E is implicated in cancer progression through epigenetic dysregulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDM4E Knockout HEK293 Cell Line | EDJ-KQ13917 | Human | 390245 | Details Get a Quote |
| KDM4E Knockout HeLa Cell Line | EDJ-KQ60161 | Human | 390245 | Details Get a Quote |
| KDM4E Knockout A-549 Cell Line | EDJ-KQ68622 | Human | 390245 | Details Get a Quote |
| KDM4E Knockout HCT 116 Cell Line | EDJ-KQ76991 | Human | 390245 | Details Get a Quote |
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