ZMYND19

Chr 9

zinc finger MYND-type containing 19

Also known as: MIZIP

NCBI Gene: 116225ENSG00000165724UniProt: Q96E35OMIM: 611424

The ZMYND19 protein contains a MYND zinc finger domain and binds to melanin-concentrating hormone receptor-1 as well as alpha- and beta-tubulin, potentially serving as a regulatory molecule in MCH receptor signaling. Mutations cause autosomal recessive intellectual disability with neurological features. The gene is highly constrained against loss-of-function variants, indicating its essential role in normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.34
Clinical Summary— ZMYND19
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
71 unique Pathogenic / Likely Pathogenic· 22 VUS of 100 total submissions
Explore recent and relevant literature in Research Assistant →
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.952
Z-score 3.21
OE 0.07 (0.03–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.56Z-score
OE missense 0.62 (0.52–0.75)
84 obs / 134.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.07 (0.03–0.34)
0≤0.351.4
Missense OE0.62 (0.52–0.75)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 1 / 13.9Missense obs/exp: 84 / 134.9Syn Z: -0.12

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic67
Likely Pathogenic4
VUS22
67
Pathogenic
4
Likely Pathogenic
22
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
67
0
67
Likely Pathogenic
0
0
4
0
4
VUS
0
21
1
0
22
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02172093

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZMYND19 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
The CTLH Ubiquitin Ligase Substrates ZMYND19 and MKLN1 Negatively Regulate mTORC1 at the Lysosomal Membrane.
Wang Y et al.·Res Sq
2024
Identification of Candidate Genes and Regulatory Competitive Endogenous RNA (ceRNA) Networks Underlying Intramuscular Fat Content in Yorkshire Pigs with Extreme Fat Deposition Phenotypes
Ding Y et al.·Int J Mol Sci
2022
Proteome-wide C-degron activity profiling connects conditional regulation of the CTLH E3 ligase complex to ribosome biogenesis.
Grant DW et al.·bioRxiv
2026
Biomarker Identification through Multiomics Data Analysis of Prostate Cancer Prognostication Using a Deep Learning Model and Similarity Network Fusion
Wang TH et al.·Cancers (Basel)
2021Functional
A Korean male with Kleefstra syndrome presented with micropenis
Lee R et al.·Ann Pediatr Endocrinol Metab
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients