ZMYND11: Zinc Finger MYND-Type Containing 11
A chromatin reader and tumor suppressor gene involved in transcriptional regulation and cancer
Gene Information Card
| Symbol | ZMYND11 |
|---|---|
| Full Name | Zinc Finger MYND-Type Containing 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.3 |
| NCBI Gene ID | 10771 ncbi.nlm.nih.gov/gene/10771 |
| Ensembl ID | ENSG00000120049 |
| UniProt ID | Q15326 |
| OMIM ID | 608668 |
| HGNC ID | 13052 |
| Aliases | BRAM1, BS69, MBDIN, ZNFN3A1 |
Description
ZMYND11 encodes a protein that functions as a chromatin reader, specifically recognizing trimethylated lysine 36 of histone H3 (H3K36me3) via its PWWP domain. It also contains a MYND-type zinc finger domain that mediates interactions with other proteins. ZMYND11 acts as a transcriptional repressor and is implicated in tumor suppression, particularly in breast cancer and other malignancies. It is involved in alternative splicing regulation and RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of ZMYND11 expression leads to increased cell proliferation and invasion; acts as a tumor suppressor | PMID: 23431136, COSMIC |
| Colorectal cancer | Mutations and reduced expression associated with poor prognosis | PMID: 25691885 |
| Acute myeloid leukemia | Recurrent mutations in ZMYND11 identified in AML patients | COSMIC, ClinVar |
| Prostate cancer | Downregulation correlates with aggressive disease | PMID: 27626308 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 8.2 | Low |
| Colon | 10.1 | Medium |
| Lung | 9.8 | Medium |
| Prostate | 7.5 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 11.2 | Moderate expression |
| HEK293 (embryonic kidney) | 14.0 | High expression |
| HCT116 (colorectal cancer) | 9.5 | Moderate expression |
| K562 (leukemia) | 6.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncation of protein |
| c.789_790del (p.Glu264fs) | Frameshift | <1% | Loss of function; premature stop |
| c.1567G>A (p.Glu523Lys) | Missense | <1% | Unknown; possibly damaging |
| c.2011C>T (p.Arg671Trp) | Missense | <1% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking functional domains, resulting in loss of tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Chromatin organization
• Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
• RNA splicing
Protein Summary
ZMYND11 is a 1004-amino acid protein containing a PWWP domain (recognizes H3K36me3), a MYND zinc finger domain (mediates protein-protein interactions), and a coiled-coil region. It localizes to the nucleus and functions as a transcriptional repressor by recruiting histone deacetylase complexes. It also plays a role in alternative splicing by interacting with spliceosomal components. Loss of ZMYND11 expression or function is associated with increased cell proliferation and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZMYND11 Knockout HEK293 Cell Line | EDJ-KQ7159 | Human | 10771 | Details Get a Quote |
| ZMYND11 Knockout A-549 Cell Line | EDJ-KQ32067 | Human | 10771 | Details Get a Quote |
| ZMYND11 Knockout HCT 116 Cell Line | EDJ-KQ32068 | Human | 10771 | Details Get a Quote |
| ZMYND11 Knockout HeLa Cell Line | EDJ-KQ30690 | Human | 10771 | Details Get a Quote |