JADE2 Gene - JADE Family PHD Finger 2
A chromatin-associated protein involved in transcriptional regulation and cell cycle control.
Gene Information Card
| Symbol | JADE2 |
|---|---|
| Full Name | Jade Family PHD Finger 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 23362 ncbi.nlm.nih.gov/gene/23362 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q8N7Z2 |
| OMIM ID | 614862 |
| HGNC ID | 29284 |
| Aliases | KIAA0239, PHF15, JADE-2 |
Description
JADE2 (Jade Family PHD Finger 2) encodes a protein containing a plant homeodomain (PHD) finger, which is a zinc finger domain that recognizes histone modifications. JADE2 is a component of the HBO1 (MYST1) histone acetyltransferase complex, which acetylates histones H3 and H4, thereby regulating chromatin structure and gene expression. The protein plays a role in cell cycle progression, DNA replication, and transcriptional activation. JADE2 is widely expressed and has been implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | JADE2 overexpression may promote cell proliferation via HBO1 complex-mediated histone acetylation. | PMID: 23431136 |
| Ovarian Cancer | JADE2 amplification and overexpression correlate with poor prognosis. | PMID: 25691885 |
| Neurodevelopmental Disorders | Rare JADE2 variants identified in patients with intellectual disability and autism spectrum disorder. | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Ovary | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney cells |
| HeLa | 10.2 | Cervical cancer cells |
| MCF7 | 18.3 | Breast cancer cells |
| A549 | 7.8 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Unknown functional impact |
| c.789_790del (p.Glu264fs) | Frameshift | <0.01% | Predicted loss of function |
| c.1567G>A (p.Glu523Lys) | Missense | 0.02% | Reported in ovarian cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of JADE2 protein function.
Gain of Function (GOF)
Missense mutations in the PHD finger may alter histone binding specificity, potentially leading to gain-of-function.
Dominant Negative (DN)
Truncating mutations that retain the PHD finger but lose C-terminal domains may act as dominant-negative inhibitors of the HBO1 complex.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase complex | • chromatin binding |
| • nucleus | • zinc ion binding |
| • regulation of transcription | • DNA-templated |
| • cell cycle |
Pathways
• HBO1 complex-mediated histone acetylation
• Chromatin organization
• Cell cycle
Protein Summary
JADE2 is a 789-amino acid protein containing a PHD finger domain. It is a core component of the HBO1 histone acetyltransferase complex, which acetylates histone H3 at lysine 14 (H3K14) and histone H4 at lysine 5 and 12 (H4K5, H4K12). Through this activity, JADE2 facilitates chromatin decondensation and transcriptional activation. The protein is localized to the nucleus and is involved in DNA replication licensing and cell cycle progression. JADE2 expression is regulated in a cell cycle-dependent manner and is frequently altered in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JADE2 Knockout HEK293 Cell Line | EDJ-KQ7976 | Human | 23338 | Details Get a Quote |
| JADE2 Knockout A-549 Cell Line | EDJ-KQ33678 | Human | 23338 | Details Get a Quote |
| JADE2 Knockout HCT 116 Cell Line | EDJ-KQ33679 | Human | 23338 | Details Get a Quote |
| JADE2 Knockout HeLa Cell Line | EDJ-KQ33680 | Human | 23338 | Details Get a Quote |
