KDM2A (Lysine Demethylase 2A) Gene
A JmjC-domain histone demethylase involved in transcriptional regulation, cell growth, and cancer.
Gene Information Card
| Symbol | KDM2A |
|---|---|
| Full Name | Lysine Demethylase 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 22992 ncbi.nlm.nih.gov/gene/22992 |
| Ensembl ID | ENSG00000173112 |
| UniProt ID | Q9Y2K7 |
| OMIM ID | 605557 |
| HGNC ID | 18505 |
| Aliases | CXXC8; FBL7; FBXL11; JHDM1A; KIAA1004 |
Description
KDM2A (Lysine Demethylase 2A) is a histone demethylase that specifically demethylates di- and tri-methylated lysine 36 of histone H3 (H3K36me2/me3). It contains a JmjC domain, a CXXC zinc finger domain, and an F-box domain. KDM2A is involved in transcriptional regulation, chromatin remodeling, and cellular proliferation. It is frequently overexpressed in various cancers and has been implicated in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and altered demethylase activity leading to dysregulated gene expression and cell proliferation. | COSMIC, PubMed |
| Neuroblastoma | KDM2A promotes cell growth and is associated with poor prognosis. | PubMed |
| Gastric cancer | Upregulation of KDM2A correlates with tumor progression and metastasis. | PubMed |
| Breast cancer | KDM2A expression is elevated and contributes to oncogenic signaling. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| A549 | 12.3 | Moderate |
| MCF7 | 14.2 | Moderate |
| K562 | 10.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.5% (COSMIC) | Unknown functional impact |
| c.456C>T (p.Arg152Ter) | Nonsense | 0.1% (COSMIC) | Loss of function |
| c.789_790insA (p.Leu264ThrfsTer5) | Frameshift | 0.2% (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein lead to loss of demethylase activity and may contribute to genomic instability.
Gain of Function (GOF)
Amplification or overexpression of KDM2A can lead to increased demethylase activity, promoting oncogenic transcription programs.
Dominant Negative (DN)
Certain missense mutations in the JmjC domain may produce a dominant-negative effect by competing with wild-type protein for substrate binding without catalytic activity.
View complete mutation data：
Gene Ontology (GO)
| • histone demethylase activity (H3K36me2/me3) | • zinc ion binding |
| • DNA binding | • chromatin binding |
| • nucleus | • regulation of transcription |
| • DNA-templated | • cell proliferation |
Pathways
• Chromatin organization
• Epigenetic regulation of gene expression
• Cell cycle
• Cancer pathways
Protein Summary
The KDM2A protein is a 1162-amino-acid histone demethylase that specifically removes methyl groups from H3K36me2/me3. It contains a JmjC domain responsible for catalysis, a CXXC zinc finger that binds non-methylated CpG islands, and an F-box domain that links to ubiquitin ligase complexes. KDM2A plays a role in ribosomal RNA gene silencing, cell growth regulation, and is often overexpressed in tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDM2A Knockout HEK293 Cell Line | EDJ-KQ2839 | Human | 22992 | Details Get a Quote |
| KDM2A Knockout A-549 Cell Line | EDJ-KQ23829 | Human | 22992 | Details Get a Quote |
| KDM2A Knockout HCT 116 Cell Line | EDJ-KQ23830 | Human | 22992 | Details Get a Quote |
| KDM2A Knockout HeLa Cell Line | EDJ-KQ23831 | Human | 22992 | Details Get a Quote |
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