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.

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 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
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