ZMYND15

Chr 17AR

zinc finger MYND-type containing 15

Also known as: SPGF14

This protein acts as a transcriptional repressor by recruiting histone deacetylases to regulate gene expression during spermatogenesis. Mutations cause spermatogenic failure 14, which follows autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with a recessive disorder pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.891 OMIM phenotype
Clinical SummaryZMYND15
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
31 unique Pathogenic / Likely Pathogenic· 123 VUS of 193 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.89LOEUF
pLI 0.000
Z-score 2.12
OE 0.63 (0.460.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.12Z-score
OE missense 0.85 (0.780.93)
369 obs / 434.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.63 (0.460.89)
00.351.4
Missense OE0.85 (0.780.93)
00.61.4
Synonymous OE1.08
01.21.6
LoF obs/exp: 24 / 38.1Missense obs/exp: 369 / 434.7Syn Z: -0.84

ClinVar Variant Classifications

193 submitted variants in ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic6
VUS123
Likely Benign17
Benign3
Conflicting1
25
Pathogenic
6
Likely Pathogenic
123
VUS
17
Likely Benign
3
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
0
20
0
25
Likely Pathogenic
5
0
1
0
6
VUS
0
110
13
0
123
Likely Benign
1
9
2
5
17
Benign
0
1
0
2
3
Conflicting
1
Total11120367175

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

View in ClinVar →

Protein Context — Lollipop Plot

ZMYND15 · 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

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC