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YAP1

Chr 11q22.1

Yes1 associated transcriptional regulator

Aliases:
YAP65, YAP-1
MANE:
ENST00000282441.10
OMIM: 606608 ↗NCBI: 10413 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Ocular coloboma

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Monogenic hearing loss

Disease associations (Open Targets)

  • uveal coloboma-cleft lip and palate-intellectual disability

    0.74

  • Uveal coloboma - cleft lip and palate - intellectual disability

    0.68

  • coloboma

    0.55

  • neurodegenerative disease

    0.54

  • polycystic ovary syndrome

    0.41

  • Merkel cell skin cancer

    0.39

  • plasma cell myeloma

    0.39

  • esophageal adenocarcinoma

    0.38

  • hemangioblastoma

    0.37

  • lymphoid neoplasm

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcriptional coactivator YAP1

Transcriptional regulator with dual roles as a coactivator and corepressor. Critical downstream regulatory target in the Hippo signaling pathway, crucial for organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The Hippo signaling pathway core involves a kinase cascade featuring STK3/MST2 and STK4/MST1, along with its regulatory partner SAV1, which phosphorylates and activates LATS1/2 in complex with their regulatory protein, MOB1. This activation leads to the phosphorylation and inactivation of the YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Phosphorylation of YAP1 by LATS1/2 prevents its nuclear translocation, thereby regulating the expression of its target genes (PubMed:18158288, PubMed:26598551, PubMed:34404733). The transcriptional regulation of gene expression requires TEAD transcription factors and modulates cell growth, anchorage-independent growth, and induction of epithelial-mesenchymal transition (EMT) (PubMed:18579750). Plays a key role in tissue tension and 3D tissue shape by regulating the cortical actomyosin network, acting via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). It also suppresses ciliogenesis by acting as a transcriptional corepressor of TEAD4 target genes AURKA and PLK1 (PubMed:25849865). In conjunction with WWTR1, regulates TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity). Synergizes with WBP2 to enhance PGR activity (PubMed:16772533)

Diseases associated with YAP1

Curated MONDO disease pages that list YAP1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.