KDM3B
Lysine Demethylase 3B
Gene Information Card
| Symbol | KDM3B |
|---|---|
| Full Name | Lysine Demethylase 3B |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 51780 ncbi.nlm.nih.gov/gene/51780 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | Q7LBC6 |
| OMIM ID | 609373 |
| HGNC ID | 29111 |
| Aliases | JMJD1B, NET22, 5qNCA, C5orf7, FLJ20298, KIAA1082 |
Description
KDM3B (lysine demethylase 3B) is a gene encoding a histone demethylase that specifically demethylates mono- and dimethylated lysine 9 of histone H3 (H3K9me1 and H3K9me2), thereby regulating chromatin structure and gene expression. It is involved in spermatogenesis, adipogenesis, and cellular differentiation. KDM3B has been implicated in various cancers, obesity, and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | KDM3B mutations or deletions contribute to leukemogenesis through altered H3K9 methylation and gene expression | COSMIC, ClinVar |
| Obesity | KDM3B deficiency impairs adipogenesis and energy metabolism | OMIM, NCBI Gene |
| Spermatogenic failure | KDM3B is required for histone-to-protamine transition during spermatogenesis | OMIM, NCBI Gene |
| Colorectal cancer | KDM3B overexpression promotes tumor growth via H3K9 demethylation of oncogenic targets | COSMIC |
| Breast cancer | KDM3B expression correlates with poor prognosis and metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 8.5 | Medium |
| Adipose tissue | 6.1 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 12.4 | High expression |
| HeLa (cervical) | 7.8 | Medium expression |
| MCF7 (breast) | 6.5 | Medium expression |
| HepG2 (liver) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% in general population | Loss of function; associated with AML |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; reported in COSMIC |
| c.2101G>A (p.Gly701Arg) | Missense | <0.1% | Unknown significance; rare in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the JmjC domain impair demethylase activity.
Gain of Function (GOF)
Not well characterized; no recurrent gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Histone H3-K9 demethylation | • Chromatin organization |
| • Regulation of transcription | • DNA-templated |
| • Spermatogenesis | • Adipocyte differentiation |
| • Protein binding |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by histone demethylation
• Adipogenesis
Protein Summary
KDM3B is a 1,761-amino acid protein containing a JmjC domain responsible for demethylase activity. It localizes to the nucleus and interacts with transcription factors to regulate gene expression. The protein is essential for male fertility and metabolic homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDM3B Knockout HEK293 Cell Line | EDJ-KQ11221 | Human | 51780 | Details Get a Quote |
| KDM3B Knockout A-549 Cell Line | EDJ-KQ39290 | Human | 51780 | Details Get a Quote |
| KDM3B Knockout HCT 116 Cell Line | EDJ-KQ39291 | Human | 51780 | Details Get a Quote |
| KDM3B Knockout HeLa Cell Line | EDJ-KQ39292 | Human | 51780 | Details Get a Quote |
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