JMJD6 Gene - Jumonji Domain Containing 6
A bifunctional dioxygenase involved in histone demethylation and mRNA splicing regulation
Gene Information Card
| Symbol | JMJD6 |
|---|---|
| Full Name | Jumonji domain containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 23210 ncbi.nlm.nih.gov/gene/23210 |
| Ensembl ID | ENSG00000070495 |
| UniProt ID | Q6NYC1 |
| OMIM ID | 604914 |
| HGNC ID | 19355 |
| Aliases | PTDSR, PSR, bA216B21.1, FLJ00004, FLJ21159, KIAA0585 |
Description
JMJD6 (Jumonji Domain Containing 6) encodes a bifunctional dioxygenase that catalyzes both lysyl-hydroxylation of splicing regulatory proteins and demethylation of histone H3 arginine residues. It plays critical roles in mRNA splicing, transcriptional regulation, and cellular differentiation. The protein localizes to the nucleus and is involved in RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression and altered splicing of oncogenes | COSMIC; multiple studies |
| Breast cancer | JMJD6 upregulation correlates with poor prognosis | PubMed; COSMIC |
| Lung cancer | JMJD6 promotes tumor growth via splicing regulation | PubMed; COSMIC |
| Colorectal cancer | JMJD6 overexpression linked to metastasis | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | Medium |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| K562 | 19.7 | Leukemia cell line |
| A549 | 17.3 | Lung cancer cell line |
| MCF7 | 15.9 | Breast cancer cell line |
| HEK293 | 14.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.02% | Unknown functional impact |
| c.1456C>T (p.Arg486Trp) | Missense | 0.01% | Unknown functional impact |
| c.1789_1790insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, reducing enzymatic activity.
Gain of Function (GOF)
Not well characterized; overexpression in tumors may confer gain-of-function effects.
Dominant Negative (DN)
No dominant-negative mutations reported in literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Histone arginine demethylation
• mRNA splicing regulation
• Cellular response to hypoxia
Protein Summary
JMJD6 is a 403-amino acid nuclear protein containing a JmjC domain that confers dioxygenase activity. It hydroxylates lysine residues in U2AF65 and other splicing factors, modulating alternative splicing. It also demethylates histone H3 arginine 2 (H3R2me2s), influencing chromatin dynamics. The protein is implicated in development, stem cell differentiation, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JMJD6 Knockout HEK293 Cell Line | EDJ-KQ3411 | Human | 23210 | Details Get a Quote |
| JMJD6 Knockout A-549 Cell Line | EDJ-KQ25126 | Human | 23210 | Details Get a Quote |
| JMJD6 Knockout HeLa Cell Line | EDJ-KQ25127 | Human | 23210 | Details Get a Quote |
| JMJD6 Knockout HCT 116 Cell Line | EDJ-KQ23736 | Human | 23210 | Details Get a Quote |
