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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POF1B
POF1B actin binding protein
Chromosome X · Xq21.1
NCBI Gene: 79983Ensembl: ENSG00000124429.19HGNC: HGNC:13711UniProt: Q8WVV4
70PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin filament bindingepithelial cell morphogenesisactin filament organizationactin cytoskeleton organizationprimary ovarian insufficiencyVaricose veinsvein disorderlymphatic system disease
✦AI Summary

POF1B is an X-linked actin-binding protein that plays a critical role in organizing epithelial monolayers through regulation of the actin cytoskeleton 1. The protein localizes to multiple cell-cell adhesion structures including tight junctions, adherens junctions, and desmosomes 12. In desmosomal complexes, POF1B associates with desmoplakin and intermediate filaments, where it regulates desmosome assembly and cell mechanical resistance 2. POF1B is specifically expressed in differentiated epithelial tissues, including the granular layer of epidermis and the gastro-intestinal tract, where expression is activated during barrier formation 3. Clinically, POF1B mutations are associated with premature ovarian insufficiency (POI), a condition characterized by ovarian follicle exhaustion before age 40 45. The R329Q variant impairs tight junction assembly and actin organization, causing defective epithelial polarity, ciliogenesis, and cystogenesis 1. However, mutation screening studies show variable POF1B involvement in POI etiology; while mutations have been identified in some patients, large-scale studies suggest POF1B is rarely implicated compared to other POI-associated genes 467. Recent evidence indicates copy number variations in POF1B may contribute to diminished ovarian reserve, though additional functional studies are needed to clarify its role 8.

Sources cited
1
POF1B localizes to tight and adherens junctions, regulates actin cytoskeleton organization, and the R329Q variant causes epithelial defects
PMID: 21940798
2
POF1B localizes to desmosomes and regulates desmosome assembly and cell adhesion properties
PMID: 25084053
3
POF1B is specifically expressed in differentiated epithelial tissues including granular epidermis and GI tract
PMID: 17123869
4
POF1B is rarely implicated in POI etiology compared to other genetic causes
PMID: 34794894
5
POF1B is an X-linked gene associated with human infertility and reproductive deficiencies
PMID: 31402110
6
POF1B copy number variations may contribute to diminished ovarian reserve
PMID: 38995507
7
POF1B mutation analysis in POF patients showed rare mutations with unclear pathogenic role
PMID: 15459172
8
Novel POF1B variants identified in POI cases warrant further functional evaluation
PMID: 31026518
Disease Associationsⓘ21
primary ovarian insufficiencyOpen Targets
0.50Moderate
Varicose veinsOpen Targets
0.35Weak
lymphatic system diseaseOpen Targets
0.34Weak
vein disorderOpen Targets
0.34Weak
Premature ovarian insufficiencyOpen Targets
0.12Weak
breast carcinomaOpen Targets
0.04Suggestive
blue diaper syndromeOpen Targets
0.03Suggestive
familial hypocalciuric hypercalcemia 1Open Targets
0.03Suggestive
Familial hypocalciuric hypercalcemia type 1Open Targets
0.03Suggestive
breast diseaseOpen Targets
0.03Suggestive
cholestasis, progressive familial intrahepatic, 7, with or without hearing lossOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.01Suggestive
premature menopauseOpen Targets
0.01Suggestive
prostate carcinomaOpen Targets
0.01Suggestive
non-syndromic X-linked intellectual disabilityOpen Targets
0.01Suggestive
chronic interstitial cystitisOpen Targets
0.01Suggestive
periodontitisOpen Targets
0.01Suggestive
ovarian dysfunctionOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Premature ovarian failure 2BUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FIGLAProtein interaction96%NOBOXProtein interaction94%FOXL2Protein interaction88%BMP15Protein interaction88%FMR1Protein interaction78%DIAPH2Protein interaction68%
Tissue Expression6 tissues
Heart
100%
Lung
8%
Liver
5%
Ovary
1%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
POF1BFIGLANOBOXFOXL2BMP15FMR1DIAPH2
PROTEIN STRUCTURE
Preparing viewer…
PDB3BH9 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.77–1.20]
RankingsWhere POF1B stands among ~20K protein-coding genes
  • #6,748of 20,598
    Most Researched70
  • #12,648of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedPOF1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab · 2022
1.00
2
POF1B localizes to desmosomes and regulates cell adhesion in human intestinal and keratinocyte cell lines.
PMID: 25084053
J Invest Dermatol · 2015
0.90
3
Spatial and temporal expression of POF1B, a gene expressed in epithelia.
PMID: 17123869
Gene Expr Patterns · 2007
0.80
4
BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve.
PMID: 38995507
J Assist Reprod Genet · 2024
0.70
5
Sex chromosomes-linked single-gene disorders involved in human infertility.
PMID: 31402110
Eur J Med Genet · 2019
0.60