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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.
ZMYND15
zinc finger MYND-type containing 15
Chromosome 17 Β· 17p13.2
NCBI Gene: 84225Ensembl: ENSG00000141497.15HGNC: HGNC:20997UniProt: Q9H091
10PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
histone deacetylase bindingspermatid developmentnegative regulation of DNA-templated transcriptionnucleusspermatogenic failure 14male infertility with azoospermia or oligozoospermia due to single gene mutationazoospermiamale infertility
✦AI Summary

ZMYND15 is a zinc finger protein that functions as a transcriptional repressor through interaction with histone deacetylases (HDACs) 1. It plays a critical role in spermatogenesis by regulating haploid gene expression and mediating interactions with key spermatogenic molecules including DPY19L2, AKAP4, FSIP2, and autophagy-associated protein SPATA33 to facilitate sperm individualization and cytoplasm removal 1. In mice, ZMYND15 deletion causes infertility due to nonobstructive azoospermia 2. Biallelic ZMYND15 variants cause male infertility with a phenotypic spectrum ranging from severe oligozoospermia to azoospermia, characterized by abnormal sperm morphology, reduced chr17 condensation, and nuclear aneuploidy 314. The biallelic pathogenic mutation frequency in infertile men is approximately 1.3% 1. Novel mutations identified include frameshift variants and missense variants predicted to be deleterious 3. Clinically, ZMYND15 expression levels in testicular tissue show diagnostic potential for predicting successful sperm retrieval in azoospermic men, with sensitivity of 90% and specificity of 60% 5. Additionally, seminal plasma cell-free mRNA of ZMYND15 and its target genes (TNP1, PRM1) may serve as noninvasive biomarkers for identifying focal spermatogenesis in nonobstructive azoospermia 6.

Sources cited
1
Novel homozygous frameshift and missense variants in ZMYND15 associated with oligozoospermia/azoospermia and abnormal sperm morphology
PMID: 40240737
2
ZMYND15 regulates spermatogenesis through HDAC interaction and interactions with DPY19L2, AKAP4, FSIP2, and SPATA33; biallelic mutation frequency of 1.3% in infertile men
PMID: 35973810
3
Homozygous truncating ZMYND15 variants cause severe oligozoospermia with phenotypic spectrum expansion
PMID: 33169450
4
ZMYND15 loss-of-function variants cause severe oligozoospermia with potential macrozoospermia phenotype
PMID: 35017390
5
ZMYND15 expression levels predict successful sperm retrieval in azoospermic men with 90% sensitivity and 60% specificity
PMID: 29305944
6
Identification of first homozygous truncating ZMYND15 mutation (p.K507Sfs*3) in recessive idiopathic azoospermia with testis-specific expression
PMID: 24431330
7
Cell-free seminal mRNA of ZMYND15 and target genes TNP1/PRM1 predict presence of focal spermatogenesis in nonobstructive azoospermia
PMID: 31793700
Disease Associationsβ“˜21
spermatogenic failure 14Open Targets
0.60Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.37Weak
azoospermiaOpen Targets
0.35Weak
male infertilityOpen Targets
0.12Weak
joint diseaseOpen Targets
0.08Suggestive
bone remodeling diseaseOpen Targets
0.04Suggestive
asthmaOpen Targets
0.02Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
spondylo-ocular syndromeOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
sessile serrated polypOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
oligospermiaOpen Targets
0.00Suggestive
Spermatogenic failure 14UniProt
Pathogenic Variants8
NM_001136046.3(ZMYND15):c.380_384del (p.Lys127fs)Likely pathogenic
Spermatogenic failure 14
β˜…β˜†β˜†β˜†2023β†’ Residue 127
NM_001136046.3(ZMYND15):c.463_466del (p.Pro155fs)Likely pathogenic
Spermatogenic failure 14
β˜…β˜†β˜†β˜†2023β†’ Residue 155
NM_001136046.3(ZMYND15):c.170G>A (p.Trp57Ter)Likely pathogenic
Spermatogenic failure 14
β˜…β˜†β˜†β˜†2022β†’ Residue 57
NM_001136046.3(ZMYND15):c.931C>T (p.Arg311Ter)Pathogenic
Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 311
NM_001136046.3(ZMYND15):c.1520_1523del (p.Lys507fs)Pathogenic
Spermatogenic failure 14
β˜…β˜†β˜†β˜†2019β†’ Residue 507
NM_001136046.3(ZMYND15):c.1622_1636delinsCCAC (p.Leu541fs)Pathogenic
Spermatogenic failure 14
β˜†β˜†β˜†β˜†2020β†’ Residue 541
NM_001136046.3(ZMYND15):c.1209T>A (p.Tyr403Ter)Pathogenic
Spermatogenic failure 14
β˜†β˜†β˜†β˜†2020β†’ Residue 403
NM_001136046.3(ZMYND15):c.1650del (p.Glu551fs)Pathogenic
Spermatogenic failure 14
β˜†β˜†β˜†β˜†2020β†’ Residue 551
View on ClinVar β†—
Related Genes
FNDC3AShared pathway100%OSBP2Shared pathway100%IQCNShared pathway100%TSSK1BShared pathway100%SPANXB1Shared pathway100%SPACDRShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
75%
Liver
54%
Ovary
13%
Heart
11%
Brain
4%
Gene Interaction Network
Click a node to explore
ZMYND15FNDC3AOSBP2IQCNTSSK1BSPANXB1SPACDR
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H091
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.55–0.85]
RankingsWhere ZMYND15 stands among ~20K protein-coding genes
  • #17,227of 20,598
    Most Researched10
  • #3,143of 5,498
    Most Pathogenic Variants8
  • #7,333of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedZMYND15
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Novel mutations in ZMYND15 are associated with male infertility with oligozoospermia/azoospermia.
PMID: 40240737
J Assist Reprod Genet Β· 2025
1.00
2
Sequencing of the
PMID: 35973810
J Med Genet Β· 2023
0.90
3
Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility.
PMID: 33169450
Hum Mutat Β· 2021
0.80
4
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the
PMID: 35017390
Asian J Androl Β· 2022
0.70
5
Expression of ZMYND15 in Testes of Azoospermic Men and Association With Sperm Retrieval.
PMID: 29305944
Urology Β· 2018
0.60