premature ovarian failure 2B

disease

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Also known as POF1B primary ovarian failurePOF2Bpremature ovarian failure 2B, X-linked recessivepremature ovarian failure type 2Bprimary ovarian failure caused by mutation in POF1B

Summary

premature ovarian failure 2B (MONDO:0010373) is a disease with 1 cohort gene and 1 clinical trial.

At a glance

Cohort genes: 1
ClinVar variants: 46
Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	premature ovarian failure 2B
Mondo ID	MONDO:0010373
MeSH	C564476
OMIM	300604
DOID	DOID:0080859
UMLS	C1845105
MedGen	337159
GARD	0024721
Is cancer (heuristic)	no

Also known as: POF1B primary ovarian failure · POF2B · premature ovarian failure 2B · premature ovarian failure 2B, X-linked recessive · premature ovarian failure type 2B · primary ovarian failure caused by mutation in POF1B

Data availability: 46 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 primary ovarian failure › premature ovarian failure 2B

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

46 retrieved; paginated sample, class counts are floors:

21 benign, 17 uncertain significance, 4 likely benign, 2 conflicting classifications of pathogenicity, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
10794	NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)	POF1B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
913301	NM_024921.4(POF1B):c.85C>A (p.His29Asn)	POF1B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
368761	NM_024921.4(POF1B):c.*1686G>T	POF1B	Uncertain significance	criteria provided, single submitter
368766	NM_024921.4(POF1B):c.*1112G>A	POF1B	Uncertain significance	criteria provided, single submitter
368768	NM_024921.4(POF1B):c.*835C>T	POF1B	Uncertain significance	criteria provided, single submitter
368772	NM_024921.4(POF1B):c.*635T>C	POF1B	Uncertain significance	criteria provided, single submitter
368773	NM_024921.4(POF1B):c.*584A>C	POF1B	Uncertain significance	criteria provided, single submitter
368778	NM_024921.4(POF1B):c.*132T>C	POF1B	Uncertain significance	criteria provided, single submitter
4293054	NM_024921.4(POF1B):c.957+2T>A	POF1B	Uncertain significance	criteria provided, single submitter
912883	NM_024921.4(POF1B):c.*1113T>G	POF1B	Uncertain significance	criteria provided, single submitter
912884	NM_024921.4(POF1B):c.*837T>G	POF1B	Uncertain significance	criteria provided, single submitter
912885	NM_024921.4(POF1B):c.*780G>A	POF1B	Uncertain significance	criteria provided, single submitter
912929	NM_024921.4(POF1B):c.960G>A (p.Met320Ile)	POF1B	Uncertain significance	criteria provided, multiple submitters, no conflicts
912930	NM_024921.4(POF1B):c.220G>T (p.Val74Leu)	POF1B	Uncertain significance	criteria provided, single submitter
913265	NM_024921.4(POF1B):c.*484C>T	POF1B	Uncertain significance	criteria provided, single submitter
914837	NM_024921.4(POF1B):c.*1744A>G	POF1B	Uncertain significance	criteria provided, single submitter
914877	NM_024921.4(POF1B):c.1595A>G (p.Tyr532Cys)	POF1B	Uncertain significance	criteria provided, single submitter
914878	NM_024921.4(POF1B):c.1402A>C (p.Arg468=)	POF1B	Uncertain significance	criteria provided, multiple submitters, no conflicts
914879	NM_024921.4(POF1B):c.1348C>A (p.Gln450Lys)	POF1B	Uncertain significance	criteria provided, single submitter
368764	NM_024921.4(POF1B):c.*1380T>G	POF1B	Benign	criteria provided, single submitter
368767	NM_024921.4(POF1B):c.*1019C>A	POF1B	Benign	criteria provided, multiple submitters, no conflicts
368769	NM_024921.4(POF1B):c.*775G>T	POF1B	Benign	criteria provided, single submitter
368770	NM_024921.4(POF1B):c.*755G>A	POF1B	Benign	criteria provided, single submitter
368771	NM_024921.4(POF1B):c.*669T>C	POF1B	Benign	criteria provided, multiple submitters, no conflicts
368774	NM_024921.4(POF1B):c.*368G>T	POF1B	Benign	criteria provided, multiple submitters, no conflicts
368775	NM_024921.4(POF1B):c.*352A>G	POF1B	Benign	criteria provided, single submitter
368776	NM_024921.4(POF1B):c.*312A>C	POF1B	Benign	criteria provided, multiple submitters, no conflicts
368777	NM_024921.4(POF1B):c.*268T>G	POF1B	Benign	criteria provided, multiple submitters, no conflicts
368780	NM_024921.4(POF1B):c.*44T>G	POF1B	Benign	criteria provided, multiple submitters, no conflicts
368781	NM_024921.4(POF1B):c.*42T>G	POF1B	Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 0 · 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
POF1B	Moderate	X-linked	premature ovarian failure 2B	2

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
POF1B	HGNC:13711	ENSG00000124429	Q8WVV4	Protein POF1B	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
POF1B	Protein POF1B	Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton.

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)
POF1B	Other/Unknown	no		POF1B, POF1B_HlH

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
skin of abdomen	1
skin of leg	1
upper arm skin	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
POF1B	176	broad	marker	upper arm skin, skin of leg, skin of abdomen

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
POF1B	1,176

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
POF1B	Q8WVV4	1

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
epithelial cell morphogenesis	1	936.2×	0.004	POF1B
bicellular tight junction assembly	1	330.4×	0.006	POF1B
actin filament organization	1	118.7×	0.011	POF1B
actin cytoskeleton organization	1	79.1×	0.013	POF1B

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
POF1B	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
POF1B	1	Binding:1

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	POF1B

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)
POF1B	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation

Cohort genes: POF1B