KDM7A
Lysine Demethylase 7A
Gene Information Card
| Symbol | KDM7A |
|---|---|
| Full Name | lysine demethylase 7A |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 80853 ncbi.nlm.nih.gov/gene/80853 |
| Ensembl ID | ENSG00000106459 |
| UniProt ID | Q6ZMT4 |
| OMIM ID | 611819 |
| HGNC ID | 25920 |
| Aliases | JHDM1D, KIAA1718, bA145E21.1 |
Description
KDM7A is a histone demethylase that specifically demethylates lysine residues H3K9me2, H3K27me2, and H4K20me1, acting as a transcriptional activator. It plays roles in neurodevelopment, cell cycle regulation, and is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell proliferation via H3K9me2 demethylation | PMID: 25620004 |
| Colorectal cancer | Upregulation correlates with poor prognosis | PMID: 29367608 |
| Neurodevelopmental disorders | Mutations affect histone demethylase activity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| MCF7 | 9.8 | Moderate expression |
| HCT116 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Loss of demethylase activity |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish histone demethylase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • histone H3-K9 demethylation | • histone H3-K27 demethylation |
| • histone H4-K20 demethylation | • transcription coactivator activity |
| • zinc ion binding |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by histone demethylation
Protein Summary
KDM7A is a 1036-amino acid protein containing a JmjC domain and a PHD finger. It demethylates H3K9me2, H3K27me2, and H4K20me1, regulating gene expression in neurodevelopment and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDM7A Knockout HEK293 Cell Line | EDJ-KQ8844 | Human | 80853 | Details Get a Quote |
| KDM7A Knockout A-549 Cell Line | EDJ-KQ36418 | Human | 80853 | Details Get a Quote |
| KDM7A Knockout HCT 116 Cell Line | EDJ-KQ36420 | Human | 80853 | Details Get a Quote |
| KDM7A Knockout HeLa Cell Line | EDJ-KQ36421 | Human | 80853 | Details Get a Quote |
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