JMJD8: Jumonji Domain Containing 8
A comprehensive biomedical overview of JMJD8, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | JMJD8 |
|---|---|
| Full Name | Jumonji domain containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 339123 ncbi.nlm.nih.gov/gene/339123 |
| Ensembl ID | ENSG00000161921 |
| UniProt ID | Q96S16 |
| OMIM ID | Not assigned |
| HGNC ID | 25877 |
| Aliases | FLJ32709, MGC131851 |
Description
JMJD8 (Jumonji domain containing 8) is a protein-coding gene located on chromosome 16p13.3. The encoded protein contains a Jumonji C (JmjC) domain, which is typically associated with histone demethylase activity, though the specific enzymatic function of JMJD8 remains under investigation. JMJD8 is expressed in various tissues and may play roles in cellular processes including transcriptional regulation and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Thyroid | 6.5 | Medium |
| Adrenal gland | 5.9 | Medium |
| Lung | 4.8 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Embryonic kidney cells |
| HeLa | 5.3 | Cervical cancer cells |
| K562 | 4.0 | Leukemia cells |
| HepG2 | 3.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of JmjC domain function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • histone demethylase activity (JmjC domain) (GO:0032452) |
Pathways
• Chromatin organization
• Histone modification
Protein Summary
JMJD8 is a 364-amino acid protein containing a Jumonji C (JmjC) domain. The JmjC domain is characteristic of histone demethylases, but the specific substrate and catalytic activity of JMJD8 have not been fully characterized. The protein localizes to the nucleus and is predicted to participate in chromatin remodeling and transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JMJD8 Knockout HEK293 Cell Line | EDJ-KQ2384 | Human | 339123 | Details Get a Quote |
| JMJD8 Knockout A-549 Cell Line | EDJ-KQ21536 | Human | 339123 | Details Get a Quote |
| JMJD8 Knockout HCT 116 Cell Line | EDJ-KQ22860 | Human | 339123 | Details Get a Quote |
| JMJD8 Knockout HeLa Cell Line | EDJ-KQ22861 | Human | 339123 | Details Get a Quote |
