ZMYND11
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Also known as BS69BRAM1
Summary
ZMYND11 (zinc finger MYND-type containing 11, HGNC:16966) is a protein-coding gene on chromosome 10p15.3, encoding Zinc finger MYND domain-containing protein 11 (Q15326). Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at ‘Lys-36’ (H3.3K36me3) and regulates RNA polymerase II elongation. It is haploinsufficient (ClinGen: sufficient evidence).
The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 10771 — RefSeq curated summary.
At a glance
- Gene–disease (curated): syndromic complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 2
- Clinical variants (ClinVar): 343 total — 41 pathogenic, 27 likely-pathogenic
- Phenotypes (HPO): 18
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_001370100
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16966 |
| Approved symbol | ZMYND11 |
| Name | zinc finger MYND-type containing 11 |
| Location | 10p15.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BS69, BRAM1 |
| Ensembl gene | ENSG00000015171 |
| Ensembl biotype | protein_coding |
| OMIM | 608668 |
| Entrez | 10771 |
Gene structure
Transcript identifiers
Ensembl transcripts: 87 — 80 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000381584, ENST00000381591, ENST00000381604, ENST00000397955, ENST00000397962, ENST00000402736, ENST00000403354, ENST00000439456, ENST00000473115, ENST00000488275, ENST00000509513, ENST00000558098, ENST00000602682, ENST00000627286, ENST00000704295, ENST00000704301, ENST00000704303, ENST00000704306, ENST00000704307, ENST00000704315, ENST00000704335, ENST00000704336, ENST00000704338, ENST00000704339, ENST00000704340, ENST00000704343, ENST00000857249, ENST00000857250, ENST00000857251, ENST00000857252, ENST00000857253, ENST00000857254, ENST00000857255, ENST00000857256, ENST00000857257, ENST00000857258, ENST00000857259, ENST00000857260, ENST00000857261, ENST00000857262, ENST00000857263, ENST00000857264, ENST00000857265, ENST00000857266, ENST00000857267, ENST00000857268, ENST00000857269, ENST00000857270, ENST00000857271, ENST00000857272, ENST00000857274, ENST00000857275, ENST00000857276, ENST00000857277, ENST00000857278, ENST00000857279, ENST00000857280, ENST00000857281, ENST00000857282, ENST00000857283, ENST00000857284, ENST00000917037, ENST00000917038, ENST00000917039, ENST00000917040, ENST00000917041, ENST00000972238, ENST00000972239, ENST00000972240, ENST00000972241, ENST00000972242, ENST00000972243, ENST00000972244, ENST00000972245, ENST00000972246, ENST00000972247, ENST00000972248, ENST00000972249, ENST00000972250, ENST00000972251, ENST00000972252, ENST00000972253, ENST00000972254, ENST00000972255, ENST00000972256, ENST00000972257, ENST00000972258
RefSeq mRNA: 36 — MANE Select: NM_001370100
NM_001202464, NM_001202465, NM_001202466, NM_001202467, NM_001202468, NM_001330057, NM_001370097, NM_001370098, NM_001370099, NM_001370100, NM_001370101, NM_001370102, NM_001370103, NM_001370104, NM_001370105, NM_001370106, NM_001370107, NM_001370108, NM_001370109, NM_001370110, NM_001370111, NM_001370112, NM_001370113, NM_001370114, NM_001370115, NM_001370116, NM_001370117, NM_001370118, NM_001370119, NM_001370120, NM_001370121, NM_001370122, NM_001370123, NM_001370124, NM_006624, NM_212479
CCDS: CCDS55696, CCDS55697, CCDS7052, CCDS7053, CCDS73060, CCDS91194, CCDS91195, CCDS91196, CCDS91197, CCDS91198, CCDS91199
Canonical transcript exons
ENST00000381604 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001489197 | 252348 | 254637 |
| ENSE00001787371 | 248903 | 249088 |
| ENSE00003261460 | 248336 | 248608 |
| ENSE00003288785 | 221195 | 221356 |
| ENSE00003361513 | 240056 | 240111 |
| ENSE00003401615 | 239438 | 239525 |
| ENSE00003538020 | 247398 | 247466 |
| ENSE00003542361 | 240893 | 240970 |
| ENSE00003547438 | 209889 | 210048 |
| ENSE00003593216 | 246766 | 246973 |
| ENSE00003595316 | 179994 | 180128 |
| ENSE00003619373 | 236838 | 236915 |
| ENSE00003627885 | 242021 | 242139 |
| ENSE00003902290 | 135455 | 135559 |
| ENSE00003991267 | 237585 | 237677 |
Expression profiles
Bgee: expression breadth ubiquitous, 301 present calls, max score 99.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.4183 / max 358.8404, expressed in 1774 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103404 | 11.5260 | 1733 |
| 103401 | 2.6146 | 1357 |
| 103406 | 1.5356 | 934 |
| 103399 | 1.5317 | 630 |
| 103405 | 1.3835 | 887 |
| 205701 | 0.6740 | 394 |
| 103402 | 0.5487 | 312 |
| 103398 | 0.2966 | 111 |
| 103400 | 0.1494 | 45 |
| 103403 | 0.1199 | 41 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cranial nerve II | UBERON:0000941 | 99.39 | gold quality |
| caput epididymis | UBERON:0004358 | 99.38 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.31 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.17 | gold quality |
| mammary duct | UBERON:0001765 | 99.15 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.89 | gold quality |
| corpus callosum | UBERON:0002336 | 98.88 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.87 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.83 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.83 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.82 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.81 | gold quality |
| parietal lobe | UBERON:0001872 | 98.78 | gold quality |
| saphenous vein | UBERON:0007318 | 98.78 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 98.70 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.69 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.68 | gold quality |
| renal medulla | UBERON:0000362 | 98.60 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 98.54 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 98.54 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.53 | gold quality |
| globus pallidus | UBERON:0001875 | 98.51 | gold quality |
| visceral pleura | UBERON:0002401 | 98.51 | gold quality |
| pons | UBERON:0000988 | 98.48 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.47 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.47 | gold quality |
| pylorus | UBERON:0001166 | 98.46 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.46 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.46 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 98.43 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.95 |
| E-ENAD-17 | no | 221.23 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| IL6 | Activation |
miRNA regulators (miRDB)
233 targeting ZMYND11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
Functional genomics
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 26)
- The adenovirus E1A binding protein BS69 is a corepressor of transcription through recruitment of N-CoR. (PMID:10734313)
- the C-terminal Mynd domain of BS69 (amino acids 516-561) or Mynd domains of the Caenorhabditis elegans proteins Bra-1 and Bra-2 bind not only to E1A but also to the Epstein-Barr virus EBNA2 oncoprotein and the Myc-related cellular protein MGA (PMID:11733528)
- BS69 controls E1A stability via inhibition of ubiquitination. (PMID:16300738)
- The recruitment and aggregation of BS69 is a prerequisite for JNK activation by LMP1. (PMID:16382137)
- BS69 has roles in gene repression and chromatin remodeling (PMID:16565076)
- Data indicate that BS69 is involved in cellular senescence mainly through the p53-p21Cip1 pathway. (PMID:17721438)
- BS69 forms oligomers. The PHD and MYND domains are important for the cellular localization of BS69. PIAS1 and Ubc9 interact with BS69 and promote the sumoylation of BS69. BS69 plays inhibitory roles in both muscle and neuron differentiation. (PMID:19766626)
- Knockdown of BS69 resulted in a decrease of IFN-beta induction, suggesting that BS69 is a positive regulator for the TLR3-TICAM-1 pathway and negative regulatory properties in NF-kappaB activation. (PMID:19795416)
- Data found that BS69 directly interacted with TRAF3, a negative regulator of NF-kappaB activation. Results revealed that TRAF3 was involved in the BS69-mediated suppression of LMP1/CTAR1-induced NF-kappaB activation. (PMID:20138174)
- Data show significant association between the copy number variations of BS69 and some hematological malignancies. (PMID:20425112)
- BRAM1 acts as a negative signal regulator located at the very proximal end of lymphotoxin beta receptor complex assembly. (PMID:20732415)
- identification of ZMYND11 as an H3.3-specific reader of H3K36me3 that links the histone-variant-mediated transcription elongation control to tumor suppression (PMID:24590075)
- We propose that BS69 specifically associates with H3K36me3-enriched chromatin through the PWWP domain, which facilitates the recruitment of MYND-bound transcription and chromatin remodeling factors (PMID:24675531)
- ZMYND11 represses gene expression by binding H3.3K36me3 and preventing transcription elongation. (PMID:24795016)
- this study identifies an H3.3K36me3-specific reader and a regulator of intron retention and reveals that BS69 connects histone H3.3K36me3 to regulated RNA splicing, providing significant, important insights into chromatin regulation of pre-mRNA processing. (PMID:25263594)
- In this study, we show that this translocation results in an in-frame translocation fusing exon 12 of the tumor suppressor gene ZMYND11 to exon 3 of the chromatin protein MBTD1, encoding a protein of 1,054 amino acids (PMID:26608508)
- Interaction with ZMYND11 mediates opposing roles of Ras-responsive ETS1 and ETS2. (PMID:28119415)
- The ZMYND11 gene has important functions in epigenetic regulation. (PMID:28933030)
- Taken together, ZMYND11 was demonstrated to be a potential and extremely promising suppressor of GBM, while miRNA-196a-5p was quite an important target of treatment of GBM. (PMID:29066350)
- the E1A proteins from HAdV-C5 and -A12 bind the cellular repressor protein BS69. This occurs via a SLiM containing a conserved PXLXP motif, which is present in CR2 of E1A. This SLiM confers interaction with the MYND domain of BS69. (PMID:30469473)
- Our data indicate that increased association with BS69 restricts the function of type 2 EBNA2 as a transcriptional activator and driver of B cell growth and may contribute to reduced B-cell transformation by type 2 EBV. (PMID:31283782)
- ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. (PMID:32097528)
- MicroRNA-196b promotes cell growth and metastasis of ovarian cancer by targeting ZMYND11. (PMID:32512976)
- ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism. (PMID:33594072)
- ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. (PMID:34216016)
- Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes. (PMID:35705031)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zmynd11 | ENSDARG00000057249 |
| mus_musculus | Zmynd11 | ENSMUSG00000021156 |
| rattus_norvegicus | Zmynd11 | ENSRNOG00000014670 |
| drosophila_melanogaster | CG8569 | FBGN0033752 |
Paralogs (5): PHF21B (ENSG00000056487), ZMYND8 (ENSG00000101040), PHF12 (ENSG00000109118), PHF21A (ENSG00000135365), AIRE (ENSG00000160224)
Protein
Protein identifiers
Zinc finger MYND domain-containing protein 11 — Q15326 (reviewed: Q15326)
Alternative names: Adenovirus 5 E1A-binding protein, Bone morphogenetic protein receptor-associated molecule 1, Protein BS69
All UniProt accessions (15): Q15326, A0A0A0MRY2, A0A0D9SGD6, A0A994J4C0, A0A994J4I8, A0A994J4J2, A0A994J4Y4, A0A994J6Y5, A0A994J7D2, B0QZE2, B7Z2J6, E7ENI9, E7EV75, E9PE09, J3QKD2
UniProt curated annotations — full annotation on UniProt →
Function. Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at ‘Lys-36’ (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA. Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth. (Microbial infection) Inhibits Epstein-Barr virus EBNA2-mediated transcriptional activation and host cell proliferation, through direct interaction.
Subunit / interactions. Homooligomer; forms homooligomers via its C-terminus. Interacts with histone H3.3 trimethylated at ‘Lys-36’ (H3.3K36me3). Interacts (via MYND-type zinc finger) with NCOR1. Interacts (via MYND-type zinc finger) with MGA protein (via PXLXP motif). Interacts (via MYND-type zinc finger) with EZH2. Interacts with EMSY and E2F6. Interacts with PIAS1 and UBE2I. (Microbial infection) Interacts (via MYND-type zinc finger) with human adenovirus early E1A protein (via PXLXP motif); this interaction inhibits E1A mediated transactivation. (Microbial infection) Interacts (via MYND-type zinc finger) with Epstein-Barr virus EBNA2 protein (via PXLXP motif). Interacts with Epstein-Barr virus-derived protein LMP1; leading to negatively regulate NF-kappa-B activation by Epstein-Barr virus-derived protein LMP1.
Subcellular location. Nucleus. Chromosome.
Tissue specificity. Ubiquitous.
Post-translational modifications. Sumoylated following its interaction with PIAS1 and UBE2I. Ubiquitinated, leading to proteasomal degradation.
Disease relevance. A chromosomal aberration involving ZMYND11 is a cause of acute poorly differentiated myeloid leukemia. Translocation (10;17)(p15;q21) with MBTD1. Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities (MRD30) [MIM:616083] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD30 patients manifest intellectual disability, speech delay, and subtle facial dysmorphisms, including hypertelorism, ptosis, and a wide mouth. Behavioral abnormalities, including attention deficit-hyperactivity disorder, autistic features, and aggression are commonly observed. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The PWWP domain specifically recognizes and binds histone H3.3 trimethylated at ‘Lys-36’ (H3.3K36me3) and adopts a five-bladed beta-barrel fold with an extended C-terminal alpha-helix, with a conserved H3.3K36me3-binding aromatic cage formed by Phe-291 and Trp-294 of the beta1-beta2 loop and Phe-310 of the beta3-beta4 loop. Specific recognition of H3.3 histone is mediated by the encapsulation of the H3.3-specific ‘Ser 31’ residue in a composite pocket formed by the tandem bromo-PWWP domains.
Induction. Down-regulated in breast cancer patients with poor prognosis.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15326-1 | 1 | yes |
| Q15326-2 | 2 | |
| Q15326-3 | 3 | |
| Q15326-4 | 4 | |
| Q15326-5 | 5 | |
| Q15326-6 | 6 |
RefSeq proteins (36): NP_001189393, NP_001189394, NP_001189395, NP_001189396, NP_001189397, NP_001316986, NP_001357026, NP_001357027, NP_001357028, NP_001357029, NP_001357030, NP_001357031, NP_001357032, NP_001357033, NP_001357034, NP_001357035, NP_001357036, NP_001357037, NP_001357038, NP_001357039, NP_001357040, NP_001357041, NP_001357042, NP_001357043, NP_001357044, NP_001357045, NP_001357046, NP_001357047, NP_001357048, NP_001357049, NP_001357050, NP_001357051, NP_001357052, NP_001357053, NP_006615, NP_997644 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000313 | PWWP_dom | Domain |
| IPR001487 | Bromodomain | Domain |
| IPR001965 | Znf_PHD | Domain |
| IPR002893 | Znf_MYND | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR019786 | Zinc_finger_PHD-type_CS | Conserved_site |
| IPR019787 | Znf_PHD-finger | Domain |
| IPR036427 | Bromodomain-like_sf | Homologous_superfamily |
| IPR047268 | PWWP_BS69 | Domain |
| IPR047269 | ZMY11 | Family |
| IPR048589 | SAMD1-like_WH | Domain |
| IPR057053 | MYND_ZMYND11_ZMYD8 | Domain |
| IPR057054 | ZMYND11_CC | Domain |
Pfam: PF00439, PF00855, PF21524, PF23461, PF24324
UniProt features (67 total): mutagenesis site 17, binding site 12, helix 12, strand 8, splice variant 4, domain 3, cross-link 3, zinc finger region 2, region of interest 2, chain 1, modified residue 1, short sequence motif 1, compositionally biased region 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8XU6 | X-RAY DIFFRACTION | 1.63 |
| 9LOM | X-RAY DIFFRACTION | 1.63 |
| 9LOA | X-RAY DIFFRACTION | 1.8 |
| 9M0U | X-RAY DIFFRACTION | 1.89 |
| 4NS5 | X-RAY DIFFRACTION | 1.9 |
| 5HDA | X-RAY DIFFRACTION | 2.39 |
| 9LP4 | X-RAY DIFFRACTION | 2.96 |
| 9VC7 | X-RAY DIFFRACTION | 3.35 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15326-F1 | 82.95 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (12): 258; 261; 277; 281; 563; 566; 574; 575; 581; 585; 594; 598
Post-translational modifications (4): 421, 366, 407, 408
Mutagenesis-validated functional residues (17):
| Position | Phenotype |
|---|---|
| 258–261 | no effect on nuclear location. |
| 287 | abolishes binding to dna. no effect on nuclear location. |
| 289 | abolishes binding to dna. no effect on nuclear location. |
| 291 | no effect on nuclear location. |
| 294 | abolishes interaction with histone 3. diffused distribution in the nucleus. |
| 310 | diffused distribution in the nucleus. |
| 334 | decreases binding to dna. |
| 338–339 | no effect on interaction with histone 3. abolishes binding to dna. changes location from nuclear to cytoplasmic. |
| 344–345 | abolishes binding to dna. no effect on nuclear location. |
| 562 | reduced interaction with pxlxp ligand mga without affecting interaction with viral human adenovirus early e1a protein. |
| 563 | abrogates binding to ezh2. |
| 567–568 | reduced interaction with pxlxp ligand proteins. |
| 572 | decreases interaction with epstein-barr virus ebna2 protein. |
| 586 | highly decreases interaction with epstein-barr virus ebna2 protein. no effect on the inhibition of ebna2-mediated transc |
| 590 | highly decreases interaction with epstein-barr virus ebna2 protein. almost abolishes interaction with epstein-barr virus |
| 599–602 | abolished interaction with pxlxp ligand proteins. |
| 600 | highly decreases interaction with epstein-barr virus ebna2 protein. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 320 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, AAGCAAT_MIR137, ACTACCT_MIR196A_MIR196B, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, CACCAGC_MIR138, CHANDRAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, MARTINEZ_RB1_TARGETS_UP, CAGCAGG_MIR370
GO Biological Process (8): regulation of signal transduction (GO:0009966), regulation of transcription elongation by RNA polymerase II (GO:0034243), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of JNK cascade (GO:0046329), defense response to virus (GO:0051607), negative regulation of extrinsic apoptotic signaling pathway (GO:2001237), chromatin organization (GO:0006325)
GO Molecular Function (7): double-stranded DNA binding (GO:0003690), transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), histone H3K36me3 reader activity (GO:0140003), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| transcription elongation by RNA polymerase II | 1 |
| regulation of DNA-templated transcription elongation | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| JNK cascade | 1 |
| negative regulation of MAPK cascade | 1 |
| regulation of JNK cascade | 1 |
| defense response | 1 |
| response to virus | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| negative regulation of apoptotic signaling pathway | 1 |
| regulation of extrinsic apoptotic signaling pathway | 1 |
| cellular component organization | 1 |
| DNA binding | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| transition metal ion binding | 1 |
| histone H3 reader activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1050 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZMYND11 | EMSY | Q7Z589 | 890 |
| ZMYND11 | DEAF1 | O75398 | 885 |
| ZMYND11 | TAB1 | Q15750 | 741 |
| ZMYND11 | SETD2 | Q9BYW2 | 705 |
| ZMYND11 | TRAF3 | Q13114 | 699 |
| ZMYND11 | H3-3A | P06351 | 629 |
| ZMYND11 | EFTUD2 | Q15029 | 628 |
| ZMYND11 | CBX1 | P23197 | 602 |
| ZMYND11 | DIP2C | Q9Y2E4 | 595 |
| ZMYND11 | RUNX1T1 | Q06455 | 593 |
| ZMYND11 | ZHX1 | Q9UKY1 | 577 |
| ZMYND11 | BMPR1A | P36894 | 528 |
| ZMYND11 | TRADD | Q15628 | 525 |
| ZMYND11 | NCOR1 | O75376 | 490 |
| ZMYND11 | H3C1 | P02295 | 486 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| ZMYND11 | psi-mi:“MI:0915”(physical association) | 0.660 | |
| ZMYND11 | psi-mi:“MI:0915”(physical association) | 0.660 | |
| LMP1 | ZMYND11 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| LMP1 | ZMYND11 | psi-mi:“MI:0915”(physical association) | 0.620 |
| ZMYND11 | LMP1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| ZMYND11 | ZHX1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| ZHX1 | ZMYND11 | psi-mi:“MI:0915”(physical association) | 0.590 |
| ZMYND11 | EBNA2 | psi-mi:“MI:0915”(physical association) | 0.520 |
| LTBR | ZMYND11 | psi-mi:“MI:0915”(physical association) | 0.510 |
| ZMYND11 | LTBR | psi-mi:“MI:0915”(physical association) | 0.510 |
| ZMYND11 | ARHGEF18 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | SP140 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | PPRC1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | CRYBG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | HOMEZ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | ZBTB38 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | PPP1R35 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | SLC5A7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZMYND11 | SETBP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABCC6 | ZMYND11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MLC1 | ZMYND11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TTN | ZMYND11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CREBBP | ZMYND11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDT1 | ZMYND11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (160): HIST3H3 (Protein-peptide), HIST3H3 (Reconstituted Complex), HIST3H3 (Affinity Capture-Western), HIST3H3 (Protein-peptide), HIST3H3 (Reconstituted Complex), PRPF8 (Affinity Capture-MS), SRRM2 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SRRM1 (Affinity Capture-MS), PNN (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), PABPC1 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), SAP18 (Affinity Capture-MS)
ESM2 similar proteins: A0JMY5, A2YEZ6, A3BDI8, A6QLA0, A9YUB1, B1AY10, D4A4T9, E0X9N4, O74853, P40798, P47226, P53971, Q09YN8, Q0D5B9, Q108U9, Q12986, Q15326, Q17QE2, Q18034, Q29RL2, Q2IBC3, Q2LAP6, Q2QLA1, Q2QLG8, Q4R7U2, Q54BK0, Q5PXT2, Q5R966, Q5RD91, Q5U2P3, Q5ZA07, Q5ZML4, Q67YE6, Q6DIR5, Q6IDS6, Q6NUA0, Q6ZNB6, Q7ZXE9, Q8N6M9, Q8R5C8
Diamond homologs: A2A8L1, D3ZD32, G5EBZ4, O97159, Q12873, Q14839, Q15326, Q22516, Q6PDQ2, Q8R5C8, Q8TDI0, Q9ULU4, A0A7U2QYM2, B2KF05, B2RRD7, F1R5H6, F4IXE7, F4JYC8, F4KBP5, O15164, O16102, O43918, O60885, O88491, O96028, P21675, P55201, Q03330, Q08D75, Q12830, Q15059, Q56R14, Q60544, Q64127, Q6BGW1, Q6CXW4, Q6FTW5, Q6ZPK0, Q756G9, Q7KRS9
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZHX1 | “down-regulates activity” | ZMYND11 | binding |
| EMSY | “up-regulates activity” | ZMYND11 | binding |
| ZMYND11 | “up-regulates activity” | H3-3A | binding |
| ZMYND11 | “up-regulates activity” | “Histone H3” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 41 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Infectious disease | 6 | 5.5× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| tumor necrosis factor-mediated signaling pathway | 5 | 45.9× | 3e-05 |
| obsolete positive regulation of NF-kappaB transcription factor activity | 5 | 28.5× | 9e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
343 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 41 |
| Likely pathogenic | 27 |
| Uncertain significance | 136 |
| Likely benign | 80 |
| Benign | 25 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1064579 | NM_001370100.5(ZMYND11):c.1687-1G>A | Pathogenic |
| 1064584 | NM_001370100.5(ZMYND11):c.1129del (p.Ser377fs) | Pathogenic |
| 1064646 | NM_001370100.5(ZMYND11):c.709C>T (p.Gln237Ter) | Pathogenic |
| 1072373 | NM_001370100.5(ZMYND11):c.1792del (p.Cys598fs) | Pathogenic |
| 1209429 | NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs) | Pathogenic |
| 1335032 | NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter) | Pathogenic |
| 157551 | NM_001370100.5(ZMYND11):c.206dup (p.Thr70fs) | Pathogenic |
| 157552 | NM_001370100.5(ZMYND11):c.976C>T (p.Gln326Ter) | Pathogenic |
| 157554 | NM_001370100.5(ZMYND11):c.561del (p.Met187fs) | Pathogenic |
| 1704321 | NM_001370100.5(ZMYND11):c.630C>G (p.Tyr210Ter) | Pathogenic |
| 1704322 | NM_001370100.5(ZMYND11):c.1089G>A (p.Trp363Ter) | Pathogenic |
| 1704324 | NM_001370100.5(ZMYND11):c.1756C>T (p.Gln586Ter) | Pathogenic |
| 1808675 | GRCh37/hg19 10p15.3(chr10:100027-291134)x1 | Pathogenic |
| 2024400 | NM_001370100.5(ZMYND11):c.774C>G (p.Cys258Trp) | Pathogenic |
| 2025242 | NM_001370100.5(ZMYND11):c.1080del (p.Arg361fs) | Pathogenic |
| 2425623 | NC_000010.10:g.(?267115)(298410_?)del | Pathogenic |
| 253634 | GRCh37/hg19 10p15.3(chr10:136361-274777)x1 | Pathogenic |
| 2663152 | NM_001370100.5(ZMYND11):c.705_708del (p.Glu236fs) | Pathogenic |
| 2862741 | NM_001370100.5(ZMYND11):c.872_873insA (p.Phe291fs) | Pathogenic |
| 3244984 | NC_000010.10:g.(?282758)(286930_?)del | Pathogenic |
| 3334833 | NM_001370100.5(ZMYND11):c.858_883dup (p.Pro295delinsLeuLysTer) | Pathogenic |
| 3340629 | NM_001370100.5(ZMYND11):c.946C>T (p.Gln316Ter) | Pathogenic |
| 3660977 | NM_001370100.5(ZMYND11):c.1024_1045dup (p.Glu349delinsGlyLeuGluLysGlyLeuTer) | Pathogenic |
| 3678256 | NM_001370100.5(ZMYND11):c.948del (p.Arg317fs) | Pathogenic |
| 3725487 | NM_001370100.5(ZMYND11):c.446dup (p.Lys150fs) | Pathogenic |
| 373104 | NM_001370100.5(ZMYND11):c.464_467del (p.Lys155fs) | Pathogenic |
| 3773685 | NM_001370100.5(ZMYND11):c.121_122del (p.Met41fs) | Pathogenic |
| 3897871 | NM_001370100.5(ZMYND11):c.127C>T (p.Arg43Ter) | Pathogenic |
| 3898610 | NM_001370100.5(ZMYND11):c.1206_1207del (p.Ser403fs) | Pathogenic |
| 393552 | NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter) | Pathogenic |
SpliceAI
3160 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:179973:T:G | acceptor_gain | 1.0000 |
| 10:179979:T:TA | acceptor_gain | 1.0000 |
| 10:179984:A:AG | acceptor_gain | 1.0000 |
| 10:179985:T:G | acceptor_gain | 1.0000 |
| 10:179987:A:AG | acceptor_gain | 1.0000 |
| 10:179987:ACT:A | acceptor_gain | 1.0000 |
| 10:179988:C:G | acceptor_gain | 1.0000 |
| 10:179989:T:A | acceptor_gain | 1.0000 |
| 10:179992:A:AG | acceptor_gain | 1.0000 |
| 10:179992:AGCTA:A | acceptor_loss | 1.0000 |
| 10:179993:G:GT | acceptor_gain | 1.0000 |
| 10:179993:GC:G | acceptor_gain | 1.0000 |
| 10:179993:GCT:G | acceptor_gain | 1.0000 |
| 10:179993:GCTA:G | acceptor_gain | 1.0000 |
| 10:179993:GCTAA:G | acceptor_gain | 1.0000 |
| 10:180124:ACAAA:A | donor_gain | 1.0000 |
| 10:180125:CAAA:C | donor_gain | 1.0000 |
| 10:180126:AAA:A | donor_gain | 1.0000 |
| 10:180126:AAAG:A | donor_loss | 1.0000 |
| 10:180127:AA:A | donor_gain | 1.0000 |
| 10:180128:AG:A | donor_loss | 1.0000 |
| 10:180129:G:GG | donor_gain | 1.0000 |
| 10:180129:G:T | donor_loss | 1.0000 |
| 10:209884:TTCA:T | acceptor_loss | 1.0000 |
| 10:209885:TCA:T | acceptor_loss | 1.0000 |
| 10:209886:CAGGT:C | acceptor_loss | 1.0000 |
| 10:209887:A:C | acceptor_loss | 1.0000 |
| 10:209888:G:GA | acceptor_loss | 1.0000 |
| 10:209888:GGT:G | acceptor_gain | 1.0000 |
| 10:209888:GGTAT:G | acceptor_gain | 1.0000 |
AlphaMissense
3243 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:209900:G:C | R43P | 1.000 |
| 10:209939:T:C | L56P | 1.000 |
| 10:209947:G:C | A59P | 1.000 |
| 10:209948:C:A | A59D | 1.000 |
| 10:209956:G:C | D62H | 1.000 |
| 10:209957:A:T | D62V | 1.000 |
| 10:209963:T:C | L64P | 1.000 |
| 10:209986:G:C | G72R | 1.000 |
| 10:209987:G:A | G72D | 1.000 |
| 10:209992:A:C | K74Q | 1.000 |
| 10:209992:A:G | K74E | 1.000 |
| 10:209993:A:T | K74I | 1.000 |
| 10:209994:A:C | K74N | 1.000 |
| 10:209994:A:T | K74N | 1.000 |
| 10:209995:G:A | G75S | 1.000 |
| 10:209995:G:C | G75R | 1.000 |
| 10:209995:G:T | G75C | 1.000 |
| 10:209996:G:A | G75D | 1.000 |
| 10:209996:G:T | G75V | 1.000 |
| 10:210007:G:C | G79R | 1.000 |
| 10:210007:G:T | G79C | 1.000 |
| 10:210008:G:A | G79D | 1.000 |
| 10:210017:A:C | Q82P | 1.000 |
| 10:210018:A:C | Q82H | 1.000 |
| 10:210018:A:T | Q82H | 1.000 |
| 10:210022:G:A | G84R | 1.000 |
| 10:210022:G:C | G84R | 1.000 |
| 10:210023:G:A | G84E | 1.000 |
| 10:210025:T:G | Y85D | 1.000 |
| 10:236884:T:C | L162P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000026521 (10:246693 A>G), RS1000030187 (10:201542 C>T), RS1000057501 (10:148629 A>G,T), RS1000062100 (10:216612 A>C), RS1000083422 (10:201916 T>G), RS1000156787 (10:209183 T>C), RS1000185577 (10:244571 T>G), RS1000194683 (10:213459 G>A), RS1000203416 (10:143013 T>C), RS1000226655 (10:181931 A>G), RS1000238340 (10:225224 T>G), RS1000287818 (10:193431 G>A), RS1000340667 (10:129832 G>A,C), RS1000371077 (10:195509 C>T), RS1000397371 (10:187681 C>G,T)
Disease associations
OMIM: gene MIM:608668 | disease phenotypes: MIM:616083, MIM:181500, MIM:156200, MIM:614165
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability, autosomal dominant 30 | Strong | Autosomal dominant |
| autosomal dominant non-syndromic intellectual disability | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| syndromic complex neurodevelopmental disorder | Definitive | AD |
Mondo (7): intellectual disability, autosomal dominant 30 (MONDO:0014486), neurodevelopmental disorder (MONDO:0700092), schizophrenia (MONDO:0005090), intellectual disability, autosomal dominant 1 (MONDO:0007974), pheochromocytoma/paraganglioma syndrome 5 (MONDO:0013602), intellectual disability (MONDO:0001071), autosomal dominant non-syndromic intellectual disability (MONDO:0015802)
Orphanet (7): Intellectual disability-expressive aphasia-facial dysmorphism syndrome (Orphanet:436151), 2q23.1 microdeletion syndrome (Orphanet:228402), Hereditary pheochromocytoma-paraganglioma (Orphanet:29072), ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome (Orphanet:694304), ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation (Orphanet:694308), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
18 total (19 of 18 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000154 | Wide mouth |
| HP:0000248 | Brachycephaly |
| HP:0000316 | Hypertelorism |
| HP:0000396 | Overfolded helix |
| HP:0000508 | Ptosis |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000664 | Synophrys |
| HP:0000718 | Aggressive behavior |
| HP:0000750 | Delayed speech and language development |
| HP:0001252 | Hypotonia |
| HP:0001256 | Mild intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002558 | Supernumerary nipple |
| HP:0003593 | Infantile onset |
| HP:0012760 | Reduced social responsiveness |
| HP:0100753 | Schizophrenia |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010725_32 | Malaria | 2.000000e-07 |
| GCST010725_99 | Malaria | 8.000000e-08 |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C566947 | Mental Retardation, Autosomal Dominant 1 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4739854 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Non-enzymatic BRD containing proteins
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, decreases expression, affects expression | 8 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| geraniol | increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| 7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one | decreases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methotrexate | increases expression | 1 |
| Ozone | increases oxidation, affects cotreatment | 1 |
| Poly I-C | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4736941 | Binding | Binding affinity to ZMYND11 PWWP1 domain (unknown origin) assessed as aggregation temperature at 400 uM by heating at 25 to 85 degC by differential static light scattering method | Discovery of Small-Molecule Antagonists of the PWWP Domain of NSD2. — J Med Chem |
Cellosaurus cell lines
5 cell lines: 3 embryonic stem cell, 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A8E4 | SEES3-1V human ZMYND11, clone1 | Embryonic stem cell | Male |
| CVCL_A8E5 | SEES3-1V human ZMYND11, clone2 | Embryonic stem cell | Male |
| CVCL_A8E6 | SEES3-1V human ZMYND11, clone3 | Embryonic stem cell | Male |
| CVCL_TZ30 | HAP1 ZMYND11 (-) 1 | Cancer cell line | Male |
| CVCL_TZ31 | HAP1 ZMYND11 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
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Related Atlas pages
- Associated diseases: intellectual disability, autosomal dominant 30, autosomal dominant non-syndromic intellectual disability, syndromic complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant non-syndromic intellectual disability, intellectual disability, autosomal dominant 1, intellectual disability, autosomal dominant 30, pheochromocytoma/paraganglioma syndrome 5