Oocyte maturation defect 13

Summary

Oocyte maturation defect 13 (MONDO:0859330) is a disease with 2 cohort genes.

At a glance

• Cohort genes: 2
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 13
Mondo ID	MONDO:0859330
OMIM	620154
UMLS	C5774268
MedGen	1824041
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants · 2 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 13

Related subtypes (23): female infertility due to zona pellucida defect, oocyte maturation defect 5, oocyte maturation defect 2, oocyte maturation defect 3, oocyte maturation defect 4, oocyte maturation defect 11, oocyte maturation defect 12, oocyte maturation defect 10, oocyte maturation defect 6, oocyte maturation defect 7, oocyte maturation defect 8, oocyte maturation defect 9, oocyte maturation defect 14, oocyte/zygote/embryo maturation arrest 17, oocyte/zygote/embryo maturation arrest 18, oocyte/zygote/embryo maturation arrest 19, oocyte/zygote/embryo maturation arrest 20, oocyte/zygote/embryo maturation arrest 21, oocyte/zygote/embryo maturation arrest 22, oocyte/zygote/embryo maturation arrest 23, oocyte/zygote/embryo maturation arrest 24, oocyte/zygote/embryo maturation arrest 25, oocyte/zygote/embryo maturation arrest 16

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

2 retrieved; paginated sample, class counts are floors:

1 likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1802639	NM_006887.5(ZFP36L2):c.922T>G (p.Ser308Ala)	ZFP36L2	Pathogenic	no assertion criteria provided
1802638	NM_006887.5(ZFP36L2):c.922_930del (p.Ser308_Ser310del)	ZFP36L2	Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 2 · 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
ZFP36L1	Limited	Autosomal recessive	oocyte maturation defect 13
ZFP36L2	Limited	Unknown	oocyte maturation defect 13

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ZFP36L2	Orphanet:488191	Female infertility due to oocyte meiotic arrest
ZFP36L2	Orphanet:675396	Epithelioid hemangioma

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ZFP36L2	HGNC:1108	ENSG00000152518	P47974	mRNA decay activator protein ZFP36L2	gencc,clinvar
ZFP36L1	HGNC:1107	ENSG00000185650	Q07352	mRNA decay activator protein ZFP36L1	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZFP36L2	mRNA decay activator protein ZFP36L2	Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthes…
ZFP36L1	mRNA decay activator protein ZFP36L1	Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthes…

Protein-family classification

Druggable: 0 · Difficult: 2 · Unknown: 0 · 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
Transcription factor	2	8.3×	0.015

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ZFP36L2	Transcription factor	no		Znf_CCCH, Tis11B_N, Znf_CCCH_sf
ZFP36L1	Transcription factor	no		Znf_CCCH, Tis11B_N, Znf_CCCH_sf

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
mammary duct	1
skin of hip	1
upper leg skin	1
endocervix	1
mucosa of paranasal sinus	1
mucosa of stomach	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZFP36L2	303	ubiquitous	marker	upper leg skin, skin of hip, mammary duct
ZFP36L1	289	ubiquitous	marker	mucosa of paranasal sinus, endocervix, mucosa of stomach

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ZFP36L2	2,132
ZFP36L1	1,703

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ZFP36L2	P47974	3
ZFP36L1	Q07352	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA	1	317.2×	0.006	ZFP36L1
M-decay: degradation of maternal mRNAs by maternally stored factors	1	163.1×	0.006	ZFP36L2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 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 mitotic cell cycle phase transition	2	2808.7×	6e-06	ZFP36L2, ZFP36L1
regulation of B cell differentiation	2	1296.3×	1e-05	ZFP36L2, ZFP36L1
positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	2	1123.5×	1e-05	ZFP36L2, ZFP36L1
nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	2	1053.2×	1e-05	ZFP36L2, ZFP36L1
3’-UTR-mediated mRNA destabilization	2	766.0×	2e-05	ZFP36L2, ZFP36L1
cellular response to glucocorticoid stimulus	2	624.1×	2e-05	ZFP36L2, ZFP36L1
cellular response to fibroblast growth factor stimulus	2	543.6×	3e-05	ZFP36L2, ZFP36L1
regulation of mRNA stability	2	421.3×	4e-05	ZFP36L2, ZFP36L1
T cell differentiation in thymus	2	411.0×	4e-05	ZFP36L2, ZFP36L1
ERK1 and ERK2 cascade	2	318.0×	5e-05	ZFP36L2, ZFP36L1
cellular response to epidermal growth factor stimulus	2	318.0×	5e-05	ZFP36L2, ZFP36L1
cellular response to transforming growth factor beta stimulus	2	276.3×	6e-05	ZFP36L2, ZFP36L1
response to wounding	2	221.7×	8e-05	ZFP36L2, ZFP36L1
cellular response to tumor necrosis factor	2	163.6×	1e-04	ZFP36L2, ZFP36L1
proepicardium development	1	2808.7×	0.001	ZFP36L1
nuclear-transcribed mRNA catabolic process, deadenylation-independent decay	1	2808.7×	0.001	ZFP36L1
cellular response to raffinose	1	2808.7×	0.001	ZFP36L1
regulation of keratinocyte apoptotic process	1	2808.7×	0.001	ZFP36L1
cellular response to salt stress	1	2106.5×	0.001	ZFP36L1
positive regulation of intracellular mRNA localization	1	2106.5×	0.001	ZFP36L1
regulation of mRNA 3’-end processing	1	1685.2×	0.002	ZFP36L1
regulation of myoblast differentiation	1	1203.7×	0.002	ZFP36L1
chorio-allantoic fusion	1	1053.2×	0.002	ZFP36L1
mesendoderm development	1	936.2×	0.002	ZFP36L1
regulation of keratinocyte proliferation	1	766.0×	0.003	ZFP36L1
negative regulation of erythrocyte differentiation	1	766.0×	0.003	ZFP36L1
positive regulation of monocyte differentiation	1	766.0×	0.003	ZFP36L1
somatic stem cell division	1	766.0×	0.003	ZFP36L2
regulation of stem cell proliferation	1	702.2×	0.003	ZFP36L1
cellular response to granulocyte macrophage colony-stimulating factor stimulus	1	648.1×	0.003	ZFP36L2

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
ZFP36L2	0	0
ZFP36L1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	ZFP36L2, ZFP36L1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ZFP36L2	0	—
ZFP36L1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.