MEIOB

Chr 16AR

meiosis specific with OB-fold

Also known as: C16orf73, POF23, SPGF22, gs129

NCBI Gene: 254528ENSG00000162039UniProt: Q8N635OMIM: 617670

MEIOB encodes a single-stranded DNA-binding protein required for homologous recombination during meiosis I, facilitating double-strand break repair and crossover formation. Biallelic mutations cause autosomal recessive premature ovarian failure and male spermatogenic failure, affecting reproductive function. The gene shows strong constraint against loss-of-function variants (pLI near 0, LOEUF 1.4), reflecting its essential role in meiotic processes.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 1.422 OMIM phenotypes
Clinical Summary— MEIOB
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.42LOEUF
pLI 0.000
Z-score 0.07
OE 0.98 (0.70–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.89Z-score
OE missense 0.83 (0.74–0.94)
184 obs / 221.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.98 (0.70–1.42)
0≤0.351.4
Missense OE0.83 (0.74–0.94)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 21 / 21.3Missense obs/exp: 184 / 221.3Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MEIOB · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.
Wu Y et al.·Hum Reprod
2021
A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest.
Gershoni M et al.·Hum Reprod
2019
A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks.
Caburet S et al.·EBioMedicine
2019
Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.
Sharifi S et al.·J Assist Reprod Genet
2025
Novel MEIOB pathogenic variants including a homozygous non-canonical splicing variant, cause meiotic arrest and human non-obstructive azoospermia.
Zhu X et al.·Clin Genet
2024
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