Oocyte maturation defect 4

disease

On this page

Also known as OOMD4

Summary

Oocyte maturation defect 4 (MONDO:0021575) is a disease caused by PATL2 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: PATL2 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 21

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 4
Mondo ID	MONDO:0021575
OMIM	617743
UMLS	C4540284
MedGen	1616340
GARD	0018497
Is cancer (heuristic)	no

Also known as: oocyte maturation defect 4 · OOMD4

Data availability: 21 ClinVar variants · 2 GenCC gene-disease records · 1 cell line.

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 4

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

21 retrieved; paginated sample, class counts are floors:

7 pathogenic, 7 likely pathogenic, 6 uncertain significance, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1323414	NM_001387263.1(PATL2):c.1225-2A>G	PATL2	Pathogenic	criteria provided, single submitter
2499466	NM_001387263.1(PATL2):c.890del (p.Ala297fs)	PATL2	Pathogenic	no assertion criteria provided
444048	NM_001387263.1(PATL2):c.558T>A (p.Tyr186Ter)	PATL2	Pathogenic	criteria provided, single submitter
444049	NM_001387263.1(PATL2):c.223-14_223-2del	PATL2	Pathogenic	criteria provided, single submitter
444050	NM_001387263.1(PATL2):c.1224+2T>C	PATL2	Pathogenic	no assertion criteria provided
4813487	NM_001387263.1(PATL2):c.437dup (p.Pro146_Arg147insTer)	PATL2	Pathogenic	criteria provided, single submitter
4813494	NM_001387263.1(PATL2):c.310del (p.Asp104fs)	PATL2	Pathogenic	criteria provided, single submitter
444045	NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)	LOC130056977	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1324847	NM_001387263.1(PATL2):c.446+1G>C	PATL2	Likely pathogenic	criteria provided, single submitter
3391143	NM_001387263.1(PATL2):c.135TCTGGACCCAGA[1] (p.47DPDL[1])	PATL2	Likely pathogenic	criteria provided, single submitter
444047	NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter)	PATL2	Likely pathogenic	criteria provided, single submitter
4845685	NM_001387263.1(PATL2):c.911dup (p.Leu305fs)	PATL2	Likely pathogenic	criteria provided, single submitter
549488	NM_001387263.1(PATL2):c.649T>A (p.Tyr217Asn)	PATL2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
549492	NM_001387263.1(PATL2):c.566T>G (p.Leu189Arg)	PATL2	Likely pathogenic	criteria provided, single submitter
3382909	NM_001387263.1(PATL2):c.930G>A (p.Lys310=)	PATL2	Uncertain significance	criteria provided, single submitter
3383084	NM_001387263.1(PATL2):c.4A>G (p.Asn2Asp)	PATL2	Uncertain significance	criteria provided, single submitter
3383085	NM_001387263.1(PATL2):c.1336C>T (p.Arg446Trp)	PATL2	Uncertain significance	criteria provided, single submitter
444046	NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg)	PATL2	Uncertain significance	criteria provided, single submitter
444051	NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)	PATL2	Uncertain significance	criteria provided, single submitter
444052	NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln)	PATL2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1326987	NM_001387263.1(PATL2):c.262A>G (p.Met88Val)	PATL2	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · 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
PATL2	Strong	Autosomal recessive	oocyte maturation defect 4	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PATL2	Orphanet:488191	Female infertility due to oocyte meiotic arrest

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
PATL2	HGNC:33630	ENSG00000229474	C9JE40	Protein PAT1 homolog 2	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PATL2	Protein PAT1 homolog 2	RNA-binding protein that acts as a translational repressor.

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)
PATL2	Other/Unknown	no		PAT1_dom, Pat1-like

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

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
granulocyte	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PATL2	169	ubiquitous	marker	granulocyte, oocyte, secondary oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PATL2	868

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PATL2	C9JE40	65.05

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of cytoplasmic mRNA processing body assembly	1	8426.0×	5e-04	PATL2
deadenylation-dependent decapping of nuclear-transcribed mRNA	1	1685.2×	0.001	PATL2
P-body assembly	1	1053.2×	0.001	PATL2
negative regulation of translation	1	195.9×	0.005	PATL2

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
PATL2	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	PATL2

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)
PATL2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: PATL2