KDM6B
Lysine Demethylase 6B
Gene Information Card
| Symbol | KDM6B |
|---|---|
| Full Name | Lysine Demethylase 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 23135 ncbi.nlm.nih.gov/gene/23135 |
| Ensembl ID | ENSG00000132510 |
| UniProt ID | O15054 |
| OMIM ID | 611577 |
| HGNC ID | 29012 |
| Aliases | JMJD3, KIAA0346, bA145E21.1 |
Description
KDM6B (lysine demethylase 6B) encodes a histone demethylase that specifically demethylates di- and tri-methylated lysine 27 of histone H3 (H3K27me2/3), thereby activating gene expression. It plays critical roles in development, inflammation, and cellular differentiation. Dysregulation of KDM6B is implicated in various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, prostate, lung) | Overexpression or mutation alters H3K27 methylation, promoting oncogenic transcription programs. | NCBI Gene, COSMIC |
| Inflammatory diseases (e.g., rheumatoid arthritis) | KDM6B upregulation in macrophages drives pro-inflammatory cytokine expression. | NCBI Gene, PubMed |
| Neurodevelopmental disorders | Loss-of-function variants impair neuronal differentiation and gene regulation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Bone marrow | 15.2 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 9.8 | Moderate expression |
| MCF7 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown; possibly damaging |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the catalytic domain.
Gain of Function (GOF)
Not well characterized; some missense variants may increase demethylase activity.
Dominant Negative (DN)
Not reported for KDM6B.
View complete mutation data：
Gene Ontology (GO)
| • histone H3K27 demethylase activity | • chromatin binding |
| • transcription coactivator activity | • nucleus |
| • regulation of gene expression |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by histone demethylation
• Inflammatory response pathway
Protein Summary
KDM6B (JMJD3) is a 1682-amino acid protein containing a JmjC domain responsible for demethylase activity. It removes methyl groups from H3K27me2/3, leading to chromatin decondensation and transcriptional activation. The protein is involved in development, immune response, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDM6B Knockout HEK293 Cell Line | EDJ-KQ13919 | Human | 23135 | Details Get a Quote |
| KDM6B Knockout A-549 Cell Line | EDJ-KQ43783 | Human | 23135 | Details Get a Quote |
| KDM6B Knockout HCT 116 Cell Line | EDJ-KQ43784 | Human | 23135 | Details Get a Quote |
| KDM6B Knockout HeLa Cell Line | EDJ-KQ43785 | Human | 23135 | Details Get a Quote |
| KDM6B Knockout HL-60 Cell Line | EDJ-KZ306 | Human | 23135 | Details Get a Quote |
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