ZMYND15

Chr 17AR

zinc finger MYND-type containing 15

Also known as: SPGF14

NCBI Gene: 84225ENSG00000141497UniProt: Q9H091

This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

Primary Disease Associations & Inheritance

?Spermatogenic failure 14MIM #615842
AR
0
Active trials
29
Pathogenic / LP
171
ClinVar variants
3
Pubs (1 yr)
1.1
Missense Z
0.89
LOEUF
Clinical Summary— ZMYND15
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
29 Pathogenic / Likely Pathogenic· 121 VUS of 171 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.89LOEUF
pLI 0.000
Z-score 2.12
OE 0.63 (0.46–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.12Z-score
OE missense 0.85 (0.78–0.93)
369 obs / 434.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.63 (0.46–0.89)
0≤0.351.4
Missense OE0.85 (0.78–0.93)
0≤0.61.4
Synonymous OE1.08
0≤1.21.6
LoF obs/exp: 24 / 38.1Missense obs/exp: 369 / 434.7Syn Z: -0.84

ClinVar Variant Classifications

171 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic4
VUS121
Likely Benign17
Benign3
Conflicting1
25
Pathogenic
4
Likely Pathogenic
121
VUS
17
Likely Benign
3
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
0
22
0
25
Likely Pathogenic
2
0
2
0
4
VUS
0
109
12
0
121
Likely Benign
1
9
2
5
17
Benign
0
1
0
2
3
Conflicting
—1
Total6119387171

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

View in ClinVar →

ZMYND15 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Identification of Five Tumor Antigens for Development and Two Immune Subtypes for Personalized Medicine of mRNA Vaccines in Papillary Renal Cell Carcinoma
Hu J et al.·J Pers Med
2023
Deciphering the molecular signatures of tropical Areca catechu L. under cold stress: an integrated physiological and transcriptomic analysis
Li H et al.·Front Plant Sci
2025
Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.
Yao W et al.·Transl Androl Urol
2025Cohort
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure
Cannarella R et al.·Asian J Androl
2021Cohort
Fertility problems in men carrying a translocation involved in breakpoints on chromosome 17p13: A retrospective, observational study
Li R·Medicine (Baltimore)
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 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