ZMIZ2
Zinc Finger MIZ-Type Containing 2
Gene Information Card
| Symbol | ZMIZ2 |
|---|---|
| Full Name | Zinc Finger MIZ-Type Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p13 |
| NCBI Gene ID | 83637 ncbi.nlm.nih.gov/gene/83637 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q8NF64 |
| OMIM ID | 610764 |
| HGNC ID | 16401 |
| Aliases | ZIMP10, hZIMP10, MIZIP, KIAA1815 |
Description
ZMIZ2 (Zinc Finger MIZ-Type Containing 2) encodes a transcriptional coactivator that interacts with androgen receptor and other transcription factors. It contains a MIZ-type zinc finger domain and is involved in regulating gene expression, cell proliferation, and development. ZMIZ2 is implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | ZMIZ2 coactivates androgen receptor, promoting tumor growth | PMID: 16951155 |
| Colorectal Cancer | Overexpression of ZMIZ2 correlates with poor prognosis | PMID: 29367642 |
| Breast Cancer | ZMIZ2 enhances estrogen receptor signaling | PMID: 23251496 |
| Neurodevelopmental Disorders | ZMIZ2 mutations linked to intellectual disability | ClinVar: RCV000626014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Prostate | 12.8 | Medium |
| Colon | 9.5 | Low |
| Breast | 7.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (Prostate Cancer) | 18.5 | Androgen-responsive |
| MCF7 (Breast Cancer) | 14.2 | Estrogen-responsive |
| HCT116 (Colorectal Cancer) | 11.0 | High expression |
| HEK293 (Embryonic Kidney) | 6.8 | Moderate |
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 effect |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) predicted to cause loss of coactivator function.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance activity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity (GO:0003713) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) | • regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• Androgen receptor signaling pathway
• Estrogen receptor signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
ZMIZ2 is a 1067-amino acid protein that functions as a transcriptional coactivator. It contains a MIZ-type zinc finger domain and a proline-rich region. ZMIZ2 interacts with androgen receptor, estrogen receptor, and other transcription factors to modulate gene expression. It is involved in cell proliferation, differentiation, and development. Altered expression or mutations in ZMIZ2 are associated with various cancers and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZMIZ2 Knockout HEK293 Cell Line | EDJ-KQ2100 | Human | 83637 | Details Get a Quote |
| ZMIZ2 Knockout A-549 Cell Line | EDJ-KQ22207 | Human | 83637 | Details Get a Quote |
| ZMIZ2 Knockout HeLa Cell Line | EDJ-KQ22209 | Human | 83637 | Details Get a Quote |
| ZMIZ2 Knockout HCT 116 Cell Line | EDJ-KQ20915 | Human | 83637 | Details Get a Quote |
