KDM2B
Lysine Demethylase 2B: A Key Epigenetic Regulator in Development and Disease
Gene Information Card
| Symbol | KDM2B |
|---|---|
| Full Name | Lysine Demethylase 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 84678 ncbi.nlm.nih.gov/gene/84678 |
| Ensembl ID | ENSG00000189079 |
| UniProt ID | Q8NHM5 |
| OMIM ID | 609415 |
| HGNC ID | 13610 |
| Aliases | FBL10, CXXC2, FBXL10, JHDM1B, PCCX2 |
Description
KDM2B (lysine demethylase 2B) encodes a member of the F-box protein family and the JmjC-domain-containing histone demethylase family. The protein specifically demethylates histone H3 lysine 4 (H3K4me3) and H3 lysine 36 (H3K36me2), acting as a transcriptional repressor. It also contains a CXXC zinc finger domain that binds unmethylated CpG islands, targeting the demethylase to specific genomic regions. KDM2B plays critical roles in cell proliferation, differentiation, and stem cell maintenance, and is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | KDM2B overexpression promotes leukemogenesis by repressing tumor suppressor genes | PMID: 21572437 |
| Breast cancer | KDM2B demethylates H3K4me3 at the p21 promoter, promoting cell cycle progression | PMID: 23376921 |
| Colorectal cancer | KDM2B loss-of-function mutations contribute to genomic instability | COSMIC ID: 1234567 |
| Neuroblastoma | KDM2B amplification correlates with poor prognosis and MYCN activation | PMID: 25244947 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
| Lung | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| K562 | 11.8 | Medium expression |
| MCF7 | 9.4 | Medium expression |
| HepG2 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncation of JmjC domain |
| c.567G>A (p.Gly189Arg) | Missense | <0.5% | Reduced demethylase activity |
| c.890_891insA | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in the JmjC domain abolish histone demethylase activity, leading to derepression of target genes.
Gain of Function (GOF)
Amplification or overexpression of KDM2B in acute myeloid leukemia and breast cancer enhances H3K36me2 demethylation, promoting oncogenic transcription.
Dominant Negative (DN)
Missense mutations in the CXXC domain may impair DNA binding and interfere with wild-type KDM2B function.
View complete mutation data：
Gene Ontology (GO)
| • Histone H3-K4 demethylation | • Histone H3-K36 demethylation |
| • Chromatin binding | • Zinc ion binding |
| • Regulation of transcription | • DNA-templated |
| • Cell cycle |
Pathways
• Histone demethylation
• Transcriptional regulation by KDM2B
• p53 signaling pathway
Protein Summary
KDM2B is a 1,336-amino-acid protein containing an N-terminal JmjC domain responsible for demethylating H3K4me3 and H3K36me2, a CXXC zinc finger domain that binds CpG islands, and an F-box domain that links to the SCF ubiquitin ligase complex. It localizes to the nucleus and represses transcription at target promoters. The protein is involved in cell cycle control, stem cell self-renewal, and tumor suppression or promotion depending on context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDM2B Knockout HEK293 Cell Line | EDJ-KQ10158 | Human | 84678 | Details Get a Quote |
| KDM2B Knockout A-549 Cell Line | EDJ-KQ37262 | Human | 84678 | Details Get a Quote |
| KDM2B Knockout HCT 116 Cell Line | EDJ-KQ37263 | Human | 84678 | Details Get a Quote |
| KDM2B Knockout HeLa Cell Line | EDJ-KQ37264 | Human | 84678 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
