JADE3: A Key Component of the HBO1 Histone Acetyltransferase Complex
Comprehensive genomic and functional analysis of JADE3, a scaffold protein involved in chromatin regulation and development.
Gene Information Card
| Symbol | JADE3 |
|---|---|
| Full Name | jade family PHD finger 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 9767 ncbi.nlm.nih.gov/gene/9767 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q96KQ7 |
| OMIM ID | 300523 |
| HGNC ID | 29284 |
| Aliases | JADE-3, PHF16, KIAA0215, MGC138207 |
Description
JADE3 (jade family PHD finger 3) encodes a scaffold protein that is a core component of the HBO1 (MYST1/KAT7) histone acetyltransferase complex. This complex specifically acetylates histone H4 at lysine residues 5, 8, and 12, and is essential for chromatin remodeling, DNA replication, and transcriptional regulation. JADE3 contains two PHD-type zinc finger domains that mediate protein-protein interactions and chromatin binding. The gene is located on the X chromosome and is widely expressed, with highest levels in the brain and reproductive tissues. JADE3 is involved in cell cycle progression, development, and has been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, X-linked 100 (MRX100) | Loss-of-function mutations in JADE3 disrupt HBO1 complex activity, impairing histone H4 acetylation and chromatin remodeling required for neuronal gene expression and synaptic plasticity. | ClinVar; PMID: 31036915 |
| Breast cancer | JADE3 overexpression or amplification may alter HBO1 complex stoichiometry, leading to aberrant histone acetylation and activation of oncogenic pathways. | COSMIC; PMID: 23535649 |
| Ovarian cancer | Somatic mutations and copy number alterations in JADE3 are observed, potentially affecting chromatin regulation and cell proliferation. | COSMIC; PMID: 26689913 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 17.2 | High |
| Testis | 15.8 | High |
| Ovary | 12.1 | Medium |
| Lung | 9.5 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 (embryonic kidney) | 14.5 | High expression |
| HeLa (cervical carcinoma) | 11.2 | Medium expression |
| MCF7 (breast cancer) | 9.8 | Medium expression |
| A549 (lung carcinoma) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1282C>T (p.Arg428*) | Nonsense | Rare | Loss of function; truncation of C-terminal domain, disrupting HBO1 complex interaction |
| c.154G>A (p.Gly52Arg) | Missense | Rare | Likely damaging; affects PHD finger domain, reducing chromatin binding |
| c.1003_1004insA (p.Thr335Asnfs*12) | Frameshift | Rare | Loss of function; premature stop codon, nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in JADE3 lead to truncated or absent protein, impairing HBO1 complex assembly and histone H4 acetylation, associated with X-linked intellectual disability.
Gain of Function (GOF)
Not well characterized; amplification or overexpression in cancers may increase HBO1 activity, promoting cell proliferation.
Dominant Negative (DN)
Not reported; JADE3 mutations are typically loss-of-function and recessive due to X-linked inheritance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HBO1 complex mediated histone H4 acetylation (Reactome: R-HSA-3214847)
• Chromatin modifying enzymes (KEGG: hsa05203)
Protein Summary
JADE3 is a 842-amino acid scaffold protein containing two PHD zinc finger domains. It forms a stable complex with HBO1 (KAT7), ING4/5, and EAF6, which specifically acetylates histone H4. The PHD fingers recognize unmodified or methylated histone H3 tails, targeting the complex to chromatin. JADE3 is essential for HBO1 stability and activity, and its loss disrupts DNA replication licensing and gene expression. The protein is highly conserved in vertebrates and is expressed in multiple tissues, with prominent roles in neural development and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JADE3 Knockout HEK293 Cell Line | EDJ-KQ6737 | Human | 9767 | Details Get a Quote |
| JADE3 Knockout HCT 116 Cell Line | EDJ-KQ31133 | Human | 9767 | Details Get a Quote |
| JADE3 Knockout HeLa Cell Line | EDJ-KQ31134 | Human | 9767 | Details Get a Quote |
| JADE3 Knockout A-549 Cell Line | EDJ-KQ29782 | Human | 9767 | Details Get a Quote |
