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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZMYM2
zinc finger MYM-type containing 2
Chromosome 13 Β· 13q12.11
NCBI Gene: 7750Ensembl: ENSG00000121741.18HGNC: HGNC:12989UniProt: A8K126
137PubMed Papers
21Diseases
0Drugs
97Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleusnucleoplasmPML bodyneurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitiescancercongenital anomaly of kidney and urinary tractcongenital hydronephrosis
✦AI Summary

ZMYM2 is a zinc finger transcriptional corepressor essential for developmental gene silencing and transposable element regulation. Mechanistically, ZMYM2 functions as a component of multiple chr13-modifying complexes, including the LSD1-CoREST-HDAC1 corepressor complex 1, TRIM28/KAP1-containing complexes in SUMO-dependent manner 2, and PRC1.6 complexes 3. During early embryogenesis, ZMYM2 represses germline genes and active transposons (particularly LINE-1 elements and MERVL endogenous retroviruses) through recruitment of DNA methylation machinery 3. The DUX-miR-344-ZMYM2 axis regulates totipotency-to-pluripotency transition by controlling MERVL activation 4. ZMYM2 knockout mice die by embryonic day 10.5 with widespread germline gene and transposon upregulation 3. Heterozygous ZMYM2 loss-of-function mutations cause neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) 5. Pathogenic variants lead to congenital anomalies of the kidney and urinary tract (CAKUT), craniofacial dysmorphisms, and neurodevelopmental disorders 1. Recent reports describe Rett-like phenotypes with motor stereotypies and spastic diplegia 6. In malignancy, ZMYM2 participates in oncogenic fusion proteins; ZMYM2-FGFR1 and ZMYM2-FLT3 fusions drive myeloproliferative neoplasms through constitutive kinase activation and chr13 instability 78. Heterozygous Zmym2-mutant mice exhibit genitourinary defects, anxiety, aggressive behavior, and glucose metabolism disorders 5, establishing ZMYM2's broad developmental and physiological significance.

Sources cited
1
Mechanistically, ZMYM2 functions as a component of multiple chr13-modifying complexes, including the LSD1-CoREST-HDAC1 corepressor complex , TRIM28/KAP1-containing complexes in SUMO-dependent manner , and PRC1.6 complexes .
PMID: 32891193
2
Mechanistically, ZMYM2 functions as a component of multiple chr13-modifying complexes, including the LSD1-CoREST-HDAC1 corepressor complex , TRIM28/KAP1-containing complexes in SUMO-dependent manner , and PRC1.6 complexes .
PMID: 37934570
3
Mechanistically, ZMYM2 functions as a component of multiple chr13-modifying complexes, including the LSD1-CoREST-HDAC1 corepressor complex , TRIM28/KAP1-containing complexes in SUMO-dependent manner , and PRC1.6 complexes .
PMID: 37395395
4
The DUX-miR-344-ZMYM2 axis regulates totipotency-to-pluripotency transition by controlling MERVL activation .
PMID: 32032525
5
Heterozygous ZMYM2 loss-of-function mutations cause neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) .
PMID: 40313719
6
Recent reports describe Rett-like phenotypes with motor stereotypies and spastic diplegia .
PMID: 40112685
Disease Associationsβ“˜21
neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitiesOpen Targets
0.77Strong
cancerOpen Targets
0.60Moderate
congenital anomaly of kidney and urinary tractOpen Targets
0.56Moderate
congenital hydronephrosisOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.54Moderate
acute lymphoblastic leukemiaOpen Targets
0.49Moderate
leukemiaOpen Targets
0.46Moderate
myelodysplastic syndromeOpen Targets
0.46Moderate
Neurodevelopmental disorderOpen Targets
0.45Moderate
chronic myelogenous leukemiaOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
developmental disorder of mental healthOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.31Weak
Neurodevelopmental delayOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.26Weak
Neurodevelopmental abnormalityOpen Targets
0.26Weak
SeizureOpen Targets
0.26Weak
preeclampsiaOpen Targets
0.23Weak
prostate adenocarcinomaOpen Targets
0.21Weak
major salivary gland cancerOpen Targets
0.20Weak
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitiesUniProt
Pathogenic Variants97
NM_197968.4(ZMYM2):c.3583C>T (p.Arg1195Ter)Pathogenic
not provided|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
β˜…β˜…β˜†β˜†2025β†’ Residue 1195
NM_197968.4(ZMYM2):c.1546C>T (p.Arg516Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 516
NM_197968.4(ZMYM2):c.2098_2099del (p.Lys700fs)Pathogenic
not provided|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
β˜…β˜…β˜†β˜†2025β†’ Residue 700
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities|Congenital anomaly of kidney and urinary tract|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 780
NM_197968.4(ZMYM2):c.3538C>T (p.Arg1180Ter)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1180
NM_197968.4(ZMYM2):c.1856dup (p.Ser620fs)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
β˜…β˜…β˜†β˜†2024β†’ Residue 620
NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities|ZMYM2-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 843
NM_197968.4(ZMYM2):c.1039C>T (p.Arg347Ter)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 347
NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities|Congenital anomaly of kidney and urinary tract|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 540
NM_197968.4(ZMYM2):c.3388C>T (p.Arg1130Ter)Likely pathogenic
Neurodevelopmental disorder|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1130
NM_197968.4(ZMYM2):c.3472C>T (p.Arg1158Ter)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 1158
NM_197968.4(ZMYM2):c.1293_1296del (p.Thr432fs)Pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 432
NM_197968.4(ZMYM2):c.2732del (p.Pro911fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 911
NM_197968.4(ZMYM2):c.1688C>G (p.Ser563Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 563
NM_197968.4(ZMYM2):c.3086_3087del (p.Phe1029fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1029
NM_197968.4(ZMYM2):c.1774_1775del (p.Leu592fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 592
NM_197968.4(ZMYM2):c.3524del (p.Glu1174_Leu1175insTer)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1174
NM_197968.4(ZMYM2):c.421C>T (p.Arg141Ter)Pathogenic
ZMYM2-related disorder|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 141
NM_197968.4(ZMYM2):c.1214_1217del (p.Cys405fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 405
NM_197968.4(ZMYM2):c.1851+1G>ALikely pathogenic
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
PHF21AProtein interaction100%ZNF217Protein interaction100%HMG20BProtein interaction98%FGFR1Protein interaction96%HDAC1Protein interaction95%CEP43Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
72%
Heart
72%
Brain
67%
Lung
57%
Liver
48%
Gene Interaction Network
Click a node to explore
ZMYM2PHF21AZNF217HMG20BFGFR1HDAC1CEP43
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UBW7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.96Intolerant
Observed/Expected LoF0.38 [0.30–0.48]
RankingsWhere ZMYM2 stands among ~20K protein-coding genes
  • #3,397of 20,598
    Most Researched137 Β· top quartile
  • #800of 5,498
    Most Pathogenic Variants97 Β· top quartile
  • #2,826of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedZMYM2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
DUX-miR-344-ZMYM2-Mediated Activation of MERVL LTRs Induces a Totipotent 2C-like State.
PMID: 32032525
Cell Stem Cell Β· 2020
1.00
2
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
PMID: 32891193
Am J Hum Genet Β· 2020
0.90
3
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.
PMID: 40112685
Brain Dev Β· 2025
0.80
4
ZMYM2 controls human transposable element transcription through distinct co-regulatory complexes.
PMID: 37934570
Elife Β· 2023
0.70
5
ZMYM2 is essential for methylation of germline genes and active transposons in embryonic development.
PMID: 37395395
Nucleic Acids Res Β· 2023
0.60