OOEP

protein-coding

oocyte expressed protein, the group of Subcortical maternal complex

Gene summary

Predicted to enable RNA binding activity. Predicted to be a structural constituent of cytoplasmic lattice. Predicted to be involved in several processes, including cytoskeleton organization; positive regulation of double-strand break repair via homologous recombination; and protein storage. Predicted to act upstream of or within several processes, including embryo implantation; in utero embryonic development; and protein phosphorylation. Located in cytoplasm and nucleus. Part of subcortical maternal complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C6orf156

MANE transcript

NM_001080507.3

Inheritance

ClinVar variants

U:27B:2

Top phenotype

Inherited oocyte maturation defect

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr6:73,368,555-73,395,133

External References & Databases

Ensembl (ENSG00000203907)

Transcript & Mutation Effects

hg38 • Region Span ~26.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

female infertility due to oocyte meiotic arrestMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0044626

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OOEP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 25

Inherited oocyte maturation defectTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080507.3. 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						0
missense			27 clinvar	2 clinvar		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	2	0	29

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080507.3	RefSeq	NP_001073976.1	3	MANE Select
ENST00000370359.6	Ensembl	ENSP00000359384.5	3	MANE Select
NM_001428256.1	RefSeq	NP_001415185.1	3	Standard
ENST00000370363.5	Ensembl	ENSP00000359388.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

RNA binding
protein binding

Cellular Component

cytoplasm
protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370359
Coding exons: 3
Length: 26579
Individuals with no LoFs: 124626
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 124647
p: 0.0000842

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.505	84	98.1	0.856	0.00000647	951
Missense (PolyPhen)		15	22.83	0.65703		254
Synonymous	0.272	37	39.2	0.945	0.00000251	308
Loss of Function	0.206	6	6.57	0.913	3.61e-7	57

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00065	0.00065	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000053	0.000053	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions. {ECO:0000250}.;

Recessive Scores

pRec: 0.0941

Intolerance Scores

RVIS EVS: 0.46
RVIS percentile EVS: 78.28

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.357

Gene Damage Prediction

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