MEIOB

Chr 16AR

meiosis specific with OB-fold

Also known as: C16orf73, POF23, SPGF22, gs129

NCBI Gene: 254528ENSG00000162039UniProt: Q8N635

Predicted to enable chromatin binding activity; single-stranded DNA 3'-5' DNA exonuclease activity; and single-stranded DNA binding activity. Predicted to be involved in double-strand break repair via homologous recombination; fertilization; and meiotic nuclear division. Located in nucleus. Implicated in primary ovarian insufficiency and spermatogenic failure 22. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Premature ovarian failure 23MIM #620686
AR
Spermatogenic failure 22MIM #617706
AR
146
ClinVar variants
50
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MEIOB
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
50 Pathogenic / Likely Pathogenic· 84 VUS of 146 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.89Z-score
OE missense 0.83 (0.74–0.94)
184 obs / 221.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.98 (0.70–1.42)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.74–0.94)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 21 / 21.3Missense obs/exp: 184 / 221.3Syn Z: 0.39

ClinVar Variant Classifications

146 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic3
VUS84
Likely Benign6
Benign6
47
Pathogenic
3
Likely Pathogenic
84
VUS
6
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
2
41
1
47
Likely Pathogenic
2
0
1
0
3
VUS
0
65
19
0
84
Likely Benign
0
3
3
0
6
Benign
0
5
0
1
6
Total575642146

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

View in 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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Premature ovarian failure 23

MIM #620686

Molecular basis of disorder known

Autosomal recessive

Spermatogenic failure 22

MIM #617706

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
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
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
Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.
Sharifi S et al.·J Assist Reprod Genet
2025
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
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
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C et al.·Genet Med
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools