HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PMEPA1
prostate transmembrane protein, androgen induced 1
Chromosome 20 · 20q13.31
NCBI Gene: 56937Ensembl: ENSG00000124225.16HGNC: HGNC:14107UniProt: Q5JY37
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingWW domain bindingR-SMAD bindingprotein sequestering activityneurodegenerative diseaseLoeys-Dietz syndromethoracic aortic aneurysmflatfoot
✦AI Summary

PMEPA1 (prostate transmembrane protein, androgen induced 1) is a multifunctional transmembrane protein that serves as a critical negative regulator of TGF-β signaling in solid tumors. The protein exists in five distinct isoforms (a-e) with differential functional properties 1. PMEPA1 inhibits TGF-β pathway signaling through direct interaction with SMAD2 and SMAD3, competing with ZFYVE9 to prevent SMAD-mediated transcriptional activation 2. Additionally, PMEPA1 promotes ubiquitin-mediated degradation of the androgen receptor (AR) through recruitment of NEDD4, thereby modulating androgen signaling 3. PMEPA1 expression is upregulated in 87% of renal cell carcinomas and in various solid tumors including prostate, colon, breast, lung, and ovarian cancers 4. In hepatocellular carcinoma (HCC), PMEPA1 overexpression (18% of cases) associates with TGF-β pathway activation, immune exhaustion, and poor prognosis, with mouse models demonstrating that MYC+PMEPA1 overexpression promotes HCC development 5. PMEPA1 expression also correlates with hypoxia-inducible factor-1 (HIF-1) activity, linking it to tumor microenvironmental adaptation 2. High PMEPA1 expression predicts poor outcomes across multiple cancer types and correlates with immune checkpoint gene expression and tumor mutational burden 6. Recent evidence indicates that truncating PMEPA1 variants associate with Loeys-Dietz syndrome, revealing disease relevance beyond cancer 7.

Sources cited
1
PMEPA1 exists as five isoforms with distinct structures; essential regulator of androgen and TGF-β signaling in solid tumors
PMID: 32842649
2
PMEPA1 participates in TGF-β and hypoxia-regulated gene expression networks; enhances HIF-1 transcription activity in solid tumors
PMID: 27697531
3
PMEPA1-d inhibits TGF-β signaling; PMEPA1-d and -e promote androgen-independent prostate cancer growth
PMID: 32064040
4
PMEPA1 upregulated in 87% of renal cell carcinoma samples and other solid tumors; encodes 287-amino acid protein with transmembrane domain
PMID: 11568975
5
PMEPA1 overexpression in HCC (18% of cases) associates with TGF-β activation, immune exhaustion, and poor prognosis; MYC+PMEPA1 promotes HCC development in vivo
PMID: 39524206
6
High PMEPA1 expression correlates with poor prognosis across cancer types and with immune checkpoint genes, TMB, and MSI
PMID: 33831430
7
Truncating PMEPA1 variants associated with Loeys-Dietz syndrome in rare disease cohorts
PMID: 36928819
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
Loeys-Dietz syndromeOpen Targets
0.37Weak
thoracic aortic aneurysmOpen Targets
0.37Weak
DolichocephalyOpen Targets
0.37Weak
flatfootOpen Targets
0.37Weak
Tall statureOpen Targets
0.37Weak
generalized dystoniaOpen Targets
0.32Weak
arthritisOpen Targets
0.24Weak
adolescent idiopathic scoliosisOpen Targets
0.24Weak
smoking initiationOpen Targets
0.22Weak
fungal infectious diseaseOpen Targets
0.19Weak
male reproductive organ cancerOpen Targets
0.19Weak
cartilage diseaseOpen Targets
0.17Weak
pyogenic granulomaOpen Targets
0.17Weak
alcohol drinkingOpen Targets
0.15Weak
hereditary disorder of connective tissueOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
prostate cancerOpen Targets
0.10Weak
cryopyrin-associated periodic syndromeOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMAD3Protein interaction100%SMAD2Protein interaction96%ARProtein interaction95%NEDD4Protein interaction88%VEPH1Shared pathway50%EID2Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
74%
Lung
50%
Ovary
41%
Liver
10%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
PMEPA1SMAD3SMAD2ARNEDD4VEPH1EID2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5JY37
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.26Tolerant
Observed/Expected LoF0.42 [0.24–0.79]
RankingsWhere PMEPA1 stands among ~20K protein-coding genes
  • #6,933of 20,598
    Most Researched68
  • #6,565of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedPMEPA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 32842649
Biomolecules · 2020
1.00
2
Oncogenic role of PMEPA1 and its association with immune exhaustion and TGF-β activation in HCC.
PMID: 39524206
JHEP Rep · 2024
0.90
3
Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation.
PMID: 31495782
Cell Stem Cell · 2019
0.80
4
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
PMID: 36928819
Nat Med · 2023
0.70
5
PMEPA1, a TGF-β- and hypoxia-inducible gene that participates in hypoxic gene expression networks in solid tumors.
PMID: 27697531
Biochem Biophys Res Commun · 2016
0.60