3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusmale meiosis Ispermatogenesishypertrophic cardiomyopathyazoospermiametabolic syndromealcohol drinking
Based on limited published evidence, BTBD18 is a BTB domain-containing protein specifically required during spermatogenesis to promote piRNA precursor expression and facilitate transcription elongation at piRNA loci during pachytene meiosis. BTBD18 binds pachytene piRNA-producing loci and mediates transposable element silencing through piRNA-Piwi protein complexes, which govern transposon methylation essential for germline integrity 1. Loss of BTBD18-targeted pachytene piRNA clusters causes severe sperm dysmorphology, impaired motility, acrosome dysfunction, and male infertility 1. BTBD18 variants have been associated with childhood-onset obesity in population studies 2.
1
BTBD18 binds pachytene piRNA loci; piRNA deficiency causes sperm acrosome dysmorphology and male infertility through disrupted spermiogenesis
PMID: 338310012
BTBD18 variants are associated with childhood-onset obesity in UK10K data
PMID: 27152526⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
hypertrophic cardiomyopathyOpen Targets
metabolic syndromeOpen Targets
alcohol drinkingOpen Targets
partial chromosome Y deletionOpen Targets
major depressive disorderOpen Targets
schizophreniaOpen Targets
spermatogenic failure 50Open Targets
spermatogenic failure 57Open Targets
spermatogenic failure 25Open Targets
spinocerebellar ataxia type 32Open Targets
isochromosomy YpOpen Targets
spermatogenic failure, X-linked, 2Open Targets
spermatogenic failure 71Open Targets
open-angle glaucomaOpen Targets
spermatogenic failure 48Open Targets
spermatogenic failure 60Open Targets
spermatogenic failure 73Open Targets
spermatogenic failure 74Open Targets
No pathogenic variants reported on ClinVar for this gene.