MEIOB

protein-coding

meiosis specific with OB-fold

Gene summary

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]

Previous symbols:

C16orf73

MANE transcript

NM_001163560.3

Inheritance

AR, AD

ClinVar variants

P:12U:70B:6

Top phenotype

Premature ovarian failure 23

gnomAD constraint

pLI —, LoF o/e 0.98

Max pathogenic AF

—

Genomic locus

chr16:1,833,986-1,884,294

External References & Databases

Ensembl (ENSG00000162039)

Transcript & Mutation Effects

hg38 • Region Span ~50.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

premature ovarian failure 23STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0958035

Submitter: PanelApp Australia

spermatogenic failure 22STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0054726

Submitter: Labcorp Genetics (formerly Invitae)

male infertility with azoospermia or oligozoospermia due to single gene mutationSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0018393

Submitter: Orphanet

spermatogenic failure 22STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0054726

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Premature ovarian failure 23AR

Manifestation: Genitourinary; Obstetric

Intervention: Obstetric

Rationale: Genetic knowledge may be beneficial to allow interventions such as preserving eggs in women with premature ovarian insufficiency

Refs: 28206990; 31000419; 34392356; 35991565

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MEIOB variants in ClinVar

7 Conditions Cataloged

not specifiedTotal: 71

not providedTotal: 7

Spermatogenic failure 22Total: 7

Premature ovarian failure 23Total: 5

MEIOB-related disorderTotal: 5

AzoospermiaTotal: 1

Premature ovarian failure 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001163560.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous	1 clinvar			1 clinvar		2
missense	1 clinvar	1 clinvar	70 clinvar	3 clinvar	2 clinvar	77
nonsense	2 clinvar					2
start loss						0
frameshift	2 clinvar	3 clinvar				5
splice donor/acceptor (+/-2bp)	1 clinvar	1 clinvar				2
Total	7	5	70	4	2	88

Highest pathogenic variant AF is 0.0002117628

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001163560.3	RefSeq	NP_001157032.1	13	MANE Select
ENST00000325962.9	Ensembl	ENSP00000314484.3	13	MANE Select
NM_152764.3	RefSeq	NP_689977.2	12	Standard
ENST00000397344.7	Ensembl	ENSP00000380504.3	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

resolution of meiotic recombination intermediates
double-strand break repair via homologous recombination
synapsis
male meiotic nuclear division
male meiosis I

Molecular Function

chromatin binding
single-stranded DNA binding
single-stranded DNA 3'-5' exodeoxyribonuclease activity

Cellular Component

nucleus
chromosome
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000412554
Coding exons: 13
Length: 50312
Individuals with no LoFs: 125677
Homozygous LoFs: 0
Heterozygous LoFs: 68
Defined: 125745
p: 0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.891	184	221	0.831	0.0000107	3095
Missense (PolyPhen)		38	54.689	0.69484		776
Synonymous	0.395	71	75.4	0.942	0.00000363	871
Loss of Function	0.0672	21	21.3	0.984	0.00000114	299

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00038	0.00037	rare
Latino/Admixed American	0.00013	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00031	0.00029	rare
South Asian	0.00067	0.00065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3'-5' exonuclease activity in vitro (By similarity). {ECO:0000250}.;

Intolerance Scores

RVIS EVS: 1
RVIS percentile EVS: 90.62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium