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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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YAP1
Yes1 associated transcriptional regulator
Chromosome 11 · 11q22.1
NCBI Gene: 10413Ensembl: ENSG00000137693.15HGNC: HGNC:16262UniProt: K0KVU2
1,515PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneOncogeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of neurogenesisregulation of stem cell proliferationtranscription cis-regulatory region bindingDNA damage responseuveal coloboma-cleft lip and palate-intellectual disabilityUveal coloboma - cleft lip and palate - intellectual disabilitycolobomaneurodegenerative disease
✦AI Summary

YAP1 (Yes1 associated transcriptional regulator) is a Hippo pathway effector and transcriptional coactivator with diverse roles in development and disease. YAP1 functions as a transcription coregulator that interacts with TEAD family proteins and other transcriptional partners 1. In normal physiology, YAP1 regulates thrombopoiesis by binding myosin heavy chain 9 to promote megakaryocyte maturation and cytoskeletal activation 2, and controls granulosa cell function through mitochondrial regulation 3. Mechanistically, YAP1 nuclear translocation is suppressed by PIPKIγi5-mediated PI4,5P2 signaling, which promotes YAP1 binding to 14-3-3 proteins for cytoplasmic retention 4. CIC transcription factor directly represses YAP1 expression through GGAAGGAA DNA-binding motifs 5. In cancer, YAP1 promotes progression across multiple malignancies. YAP1 enhances NSCLC radioresistance by inducing epithelial-mesenchymal transition 6, drives bladder cancer through IL-6/STAT3 pathway activation and immunosuppressive myeloid cell expansion 7, and cooperates with β-catenin in hepatoblastoma tumorigenesis 1. YAP1 expression defines a distinct small cell lung cancer subtype 8. Clinically, YAP1 dysregulation associates with coloboma and developmental syndromes, while YAP1 inhibition represents a therapeutic strategy in multiple cancer contexts.

Sources cited
1
YAP1 expression defines a distinct subtype of small cell lung cancer, expressed primarily in combined SCLC tumors
PMID: 33011388
2
YAP1 induces epithelial-mesenchymal transition and promotes radioresistance in NSCLC through DNA damage response modulation
PMID: 33613118
3
YAP1 promotes bladder cancer progression via IL-6/STAT3 pathway signaling and CXCL-mediated immune evasion
PMID: 39630608
4
YAP1 regulates thrombopoiesis by binding myosin heavy chain 9 to promote megakaryocyte maturation and cytoskeletal activation
PMID: 39190466
5
YAP1 is a direct target of miR-484 in granulosa cells and regulates mitochondrial function and cell viability
PMID: 35173533
6
CIC transcription factor directly represses YAP1 expression through GGAAGGAA DNA-binding motifs to suppress tumorigenesis
PMID: 36198276
7
PIPKIγi5 suppresses YAP1 signaling by preventing nuclear translocation through PI4,5P2-mediated 14-3-3 binding
PMID: 40784457
8
YAP1 cooperates with β-catenin in hepatoblastoma; YAP1 interaction with TEAD proteins is required for tumorigenesis
PMID: 24837480
Disease Associationsⓘ21
uveal coloboma-cleft lip and palate-intellectual disabilityOpen Targets
0.74Strong
Uveal coloboma - cleft lip and palate - intellectual disabilityOpen Targets
0.68Moderate
colobomaOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
coloboma, ocular, autosomal dominantOpen Targets
0.46Moderate
polycystic ovary syndromeOpen Targets
0.45Moderate
multiple myelomaOpen Targets
0.44Moderate
esophageal adenocarcinomaOpen Targets
0.40Moderate
Merkel cell skin cancerOpen Targets
0.38Weak
kidney neoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
migraine disorderOpen Targets
0.36Weak
pancreatic carcinomaOpen Targets
0.32Weak
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentUniProt
Pathogenic Variants5
NM_001130145.3(YAP1):c.257T>C (p.Met86Thr)Pathogenic
Uveal coloboma-cleft lip and palate-intellectual disability
★☆☆☆2022→ Residue 86
NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs)Likely pathogenic
Uveal coloboma-cleft lip and palate-intellectual disability
★☆☆☆2019→ Residue 399
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys)Likely pathogenic
Multiple myeloma
☆☆☆☆2019→ Residue 163
NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)Pathogenic
Congenital ocular coloboma
☆☆☆☆2014→ Residue 124
NM_001130145.3(YAP1):c.1066G>T (p.Glu356Ter)Pathogenic
Uveal coloboma-cleft lip and palate-intellectual disability
☆☆☆☆2014→ Residue 356
View on ClinVar ↗
Related Genes
PPP2R1AProtein interaction100%PPP2CAProtein interaction100%CCN2Protein interaction100%SMAD1Protein interaction100%SMAD2Protein interaction100%SMAD7Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Heart
90%
Lung
65%
Liver
49%
Brain
21%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
YAP1PPP2R1APPP2CACCN2SMAD1SMAD2SMAD7
PROTEIN STRUCTURE
Preparing viewer…
PDB6G6X · 1.13 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.21]
RankingsWhere YAP1 stands among ~20K protein-coding genes
  • #82of 20,598
    Most Researched1,515 · top 1%
  • #3,454of 5,498
    Most Pathogenic Variants5
  • #515of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedYAP1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
SCLC Subtypes Defined by ASCL1, NEUROD1, POU2F3, and YAP1: A Comprehensive Immunohistochemical and Histopathologic Characterization.
PMID: 33011388
J Thorac Oncol · 2020
1.00
2
ITGB1 enhances the Radioresistance of human Non-small Cell Lung Cancer Cells by modulating the DNA damage response and YAP1-induced Epithelial-mesenchymal Transition.
PMID: 33613118
Int J Biol Sci · 2021
0.90
3
HPV18 E7 inhibits LATS1 kinase and activates YAP1 by degrading PTPN14.
PMID: 39248565
mBio · 2024
0.86
4
YAP1 facilitates the pathogenesis of psoriasis via modulating keratinocyte proliferation and inflammation.
PMID: 40108109
Cell Death Dis · 2025
0.82
5
A retinoic acid:YAP1 signaling axis controls atrial lineage commitment.
PMID: 40343798
Cell Rep · 2025
0.80