Oocyte maturation defect 6

disease

On this page

Also known as OOMD6

Summary

Oocyte maturation defect 6 (MONDO:0032696) is a disease caused by ZP2 (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: ZP2 (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 6
Mondo ID	MONDO:0032696
OMIM	618353
UMLS	C5193047
MedGen	1682649
Is cancer (heuristic)	no

Also known as: OOMD6

Data availability: 11 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited oocyte maturation defect › oocyte maturation defect 6

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

11 retrieved; paginated sample, class counts are floors:

5 pathogenic, 3 likely pathogenic, 3 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
3892945	NM_001376232.1(ZP2):c.860_861del (p.Val287fs)	ZP2	Pathogenic	criteria provided, single submitter
4277687	NM_001376232.1(ZP2):c.1928-1G>A	ZP2	Pathogenic	criteria provided, single submitter
619596	NM_001376232.1(ZP2):c.1695-2A>G	ZP2	Pathogenic	no assertion criteria provided
619597	NM_001376232.1(ZP2):c.1691_1694dup (p.Cys566fs)	ZP2	Pathogenic	no assertion criteria provided
689402	NM_001376232.1(ZP2):c.1115G>C (p.Cys372Ser)	ZP2	Pathogenic	no assertion criteria provided
1803728	NM_001376232.1(ZP2):c.151+1G>A	ZP2	Likely pathogenic	criteria provided, single submitter
4796613	NM_001376232.1(ZP2):c.1634G>A (p.Cys545Tyr)	ZP2	Likely pathogenic	criteria provided, single submitter
4849460	NM_001376232.1(ZP2):c.357_358del (p.Arg119fs)	ZP2	Likely pathogenic	criteria provided, single submitter
3381907	NM_001376232.1(ZP2):c.2092C>T (p.Arg698Ter)	ZP2	Uncertain significance	criteria provided, single submitter
3382901	NM_001376232.1(ZP2):c.2095+2T>C	ZP2	Uncertain significance	criteria provided, single submitter
4796612	NM_001376232.1(ZP2):c.2226_2227del (p.Ser743fs)	ZP2	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ZP2	Definitive	Autosomal recessive	oocyte maturation defect 6	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ZP2	Orphanet:404466	Female infertility due to zona pellucida defect

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ZP2	HGNC:13188	ENSG00000103310	Q05996	Zona pellucida sperm-binding protein 2	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZP2	Zona pellucida sperm-binding protein 2	Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ZP2	Other/Unknown	no		ZP_dom, ZP_dom_CS, ZP-C_dom

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cerebellar cortex	1
cerebellar hemisphere	1
cerebellum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZP2	63	tissue_specific	yes	cerebellar cortex, cerebellum, cerebellar hemisphere

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ZP2	1,426

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ZP2	Q05996	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interaction With Cumulus Cells And The Zona Pellucida	1	1038.2×	0.002	ZP2
M-decay: degradation of maternal mRNAs by maternally stored factors	1	326.3×	0.003	ZP2

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
prevention of polyspermy	1	2808.7×	7e-04	ZP2
binding of sperm to zona pellucida	1	421.3×	0.002	ZP2

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ZP2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	ZP2

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ZP2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: ZP2