This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing result... See more...

Aliases for YAP1 Gene

Aliases for YAP1 Gene

  • Yes Associated Protein 1 2 3 5
  • Yes-Associated Protein YAP65 Homolog 3 4
  • Transcriptional Coactivator YAP1 3 4
  • Yes-Associated Protein 1 3 4
  • Protein Yorkie Homolog 3 4
  • YAP65 3 4
  • Yes-Associated Protein 1, 65kDa 2
  • 65 KDa Yes-Associated Protein 3
  • Yes-Associated Protein 2 3
  • Yorkie Homolog 3
  • COB1 3
  • YAP2 3
  • YAP 3
  • YKI 3

External Ids for YAP1 Gene

Previous GeneCards Identifiers for YAP1 Gene

  • GC11P104175
  • GC11P103338
  • GC11P102015
  • GC11P101519
  • GC11P101486
  • GC11P097907

Summaries for YAP1 Gene

Entrez Gene Summary for YAP1 Gene

  • This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]

CIViC Summary for YAP1 Gene

GeneCards Summary for YAP1 Gene

YAP1 (Yes Associated Protein 1) is a Protein Coding gene. Diseases associated with YAP1 include Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation and Coloboma Of Macula. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Hippo signaling pathway. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription regulatory region DNA binding. An important paralog of this gene is WWTR1.

UniProtKB/Swiss-Prot Summary for YAP1 Gene

  • Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). Plays a key role to control cell proliferation in response to cell contact. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:18158288). The presence of TEAD transcription factors are required for it to stimulate gene expression, cell growth, anchorage-independent growth, and epithelial mesenchymal transition (EMT) induction (PubMed:18579750).
  • [Isoform 2]: Isoform 2 and isoform 3 can activate the C-terminal fragment (CTF) of ERBB4 (isoform 3).

Gene Wiki entry for YAP1 Gene

Additional gene information for YAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for YAP1 Gene

Genomics for YAP1 Gene

GeneHancer (GH) Regulatory Elements for YAP1 Gene

Promoters and enhancers for YAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J102108 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 514.7 +3.1 3119 9.7 EP300 FOXK2 HNRNPK TCF12 POLR2G USF1 NCOR1 RBAK PHF8 JUND YAP1 DYNC2H1 CEP126 BIRC2 PGR ENSG00000255504 ENSG00000277459 ENSG00000260008 piR-42491-034
GH11J102137 Enhancer 1 Ensembl ENCODE dbSUPER 15.7 +28.7 28746 5.2 JUND FOS REST ZNF316 CEBPB RBM22 JUN MAFK STAT3 EP300 YAP1 ENSG00000277459 piR-42491-034
GH11J102168 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +60.2 60247 5.8 JUND FOS EP300 CEBPB RBM22 JUN STAT3 GATA2 POLR2A YAP1 CFAP300 TMEM123 piR-42491-034 ENSG00000277459
GH11J102184 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.8 +76.3 76347 5.2 POLR2G NCOR1 KDM6A TCF7 SKI TEAD1 FOXA2 TCF7L2 SAP130 RBM22 ENSG00000254422 YAP1 piR-42491-034 piR-57133-090
GH11J102191 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.6 +81.7 81676 3.3 EP300 POLR2G NCOR1 KDM6A TCF7 TGIF2 SMARCC2 SKI TEAD1 TBX3 YAP1 piR-42491-034 piR-57133-090
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around YAP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for YAP1

Top Transcription factor binding sites by QIAGEN in the YAP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • JunD
  • p300
  • p53
  • TBP
  • TFIID

Genomic Locations for YAP1 Gene

Genomic Locations for YAP1 Gene
chr11:102,110,254-102,233,424
(GRCh38/hg38)
Size:
123,171 bases
Orientation:
Plus strand
chr11:101,981,192-102,104,154
(GRCh37/hg19)
Size:
122,963 bases
Orientation:
Plus strand

Genomic View for YAP1 Gene

Genes around YAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YAP1 Gene

Proteins for YAP1 Gene

  • Protein details for YAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46937-YAP1_HUMAN
    Recommended name:
    Transcriptional coactivator YAP1
    Protein Accession:
    P46937
    Secondary Accessions:
    • B4DTY1
    • B7ZA01
    • E3WEB5
    • E3WEB6
    • E9PRV2
    • F5H202
    • K0KQ18
    • K0KYZ8
    • K0L195
    • K0L1G3
    • Q7Z574
    • Q8IUY9

    Protein attributes for YAP1 Gene

    Size:
    504 amino acids
    Molecular mass:
    54462 Da
    Quaternary structure:
    • Binds to the SH3 domain of the YES kinase. Binds to WBP1 and WBP2 (PubMed:9202023). Binds, in vitro, through the WW1 domain, to neural isoforms of ENAH that contain the PPSY motif (By similarity). The phosphorylated form interacts with YWHAB (PubMed:17974916). Interacts (via WW domains) with LATS1 (via PPxY motif 2) (PubMed:18158288). Interacts with LATS2 (PubMed:18158288). Isoform 2 and isoform 3 interact (via WW domain 1) with isoform 3 of ERBB4 (via PPxY motif 2) (PubMed:12807903). Interacts with TEAD1, TEAD2, TEAD3 and TEAD4 (PubMed:18579750, PubMed:20123905, PubMed:20123908). Interacts with TP73 (PubMed:18280240). Interacts with RUNX1 (PubMed:18280240). Interacts with HCK (PubMed:17535448). Interacts (via WW domains) with PTPN14 (via PPxY motif 2); this interaction leads to the cytoplasmic sequestration of YAP1 and inhibits its transcriptional coactivator activity (PubMed:22525271).
    Miscellaneous:
    • [Isoform 9]: Highest expression in ovary and placenta, lowest in skeletal muscle and brain.

    Three dimensional structures from OCA and Proteopedia for YAP1 Gene

    Alternative splice isoforms for YAP1 Gene

neXtProt entry for YAP1 Gene

Post-translational modifications for YAP1 Gene

  • Phosphorylated by LATS1 and LATS2; leading to cytoplasmic translocation and inactivation (PubMed:18158288, PubMed:20048001). Phosphorylated by ABL1; leading to YAP1 stabilization, enhanced interaction with TP73 and recruitment onto proapoptotic genes; in response to DNA damage (PubMed:18280240). Phosphorylation at Ser-400 and Ser-403 by CK1 is triggered by previous phosphorylation at Ser-397 by LATS proteins and leads to YAP1 ubiquitination by SCF(beta-TRCP) E3 ubiquitin ligase and subsequent degradation (PubMed:20048001). Phosphorylated at Thr-119, Ser-138, Thr-154, Ser-367 and Thr-412 by MAPK8/JNK1 and MAPK9/JNK2, which is required for the regulation of apoptosis by YAP1 (PubMed:21364637).
  • Ubiquitinated by SCF(beta-TRCP) E3 ubiquitin ligase.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for YAP1

No data available for DME Specific Peptides for YAP1 Gene

Domains & Families for YAP1 Gene

Gene Families for YAP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for YAP1 Gene

Blocks:
  • WW domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for YAP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51091, highly similar to 65 kDa Yes-associated protein (B4DTY1_HUMAN)
  • Yes-associated protein beta (E3WEB5_HUMAN)
  • Yes-associated protein delta (E3WEB6_HUMAN)
  • 65 kDa Yes-associated protein (YAP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46937

UniProtKB/Swiss-Prot:

YAP1_HUMAN :
  • The first coiled-coil region mediates most of the interaction with TEAD transcription factors.
  • Belongs to the YAP1 family.
Domain:
  • The first coiled-coil region mediates most of the interaction with TEAD transcription factors.
Family:
  • Belongs to the YAP1 family.
genes like me logo Genes that share domains with YAP1: view

Function for YAP1 Gene

Molecular function for YAP1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). Plays a key role to control cell proliferation in response to cell contact. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:18158288). The presence of TEAD transcription factors are required for it to stimulate gene expression, cell growth, anchorage-independent growth, and epithelial mesenchymal transition (EMT) induction (PubMed:18579750).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Isoform 2 and isoform 3 can activate the C-terminal fragment (CTF) of ERBB4 (isoform 3).

Phenotypes From GWAS Catalog for YAP1 Gene

Gene Ontology (GO) - Molecular Function for YAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity IEA,IMP 20123905
GO:0003714 transcription corepressor activity IDA 18158288
GO:0005515 protein binding IPI,IEA 7644498
genes like me logo Genes that share ontologies with YAP1: view
genes like me logo Genes that share phenotypes with YAP1: view

Human Phenotype Ontology for YAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for YAP1 Gene

MGI Knock Outs for YAP1:
  • Yap1 Yap1<tm1Smil>
  • Yap1 Yap1<tm1.2Dupa>

Animal Model Products

miRNA for YAP1 Gene

miRTarBase miRNAs that target YAP1

Clone Products

  • Addgene plasmids for YAP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for YAP1 Gene

Localization for YAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for YAP1 Gene

Cytoplasm. Nucleus. Note=Both phosphorylation and cell density can regulate its subcellular localization. Phosphorylation sequesters it in the cytoplasm by inhibiting its translocation into the nucleus. At low density, predominantly nuclear and is translocated to the cytoplasm at high density (PubMed:18158288, PubMed:20048001). PTPN14 induces translocation from the nucleus to the cytoplasm (PubMed:22525271). {ECO:0000269 PubMed:18158288, ECO:0000269 PubMed:20048001, ECO:0000269 PubMed:22525271}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for YAP1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for YAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 17974916
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IBA,IDA 17974916
GO:0005829 cytosol TAS,IEA --
genes like me logo Genes that share ontologies with YAP1: view

Pathways & Interactions for YAP1 Gene

genes like me logo Genes that share pathways with YAP1: view

Pathways by source for YAP1 Gene

1 GeneGo (Thomson Reuters) pathway for YAP1 Gene
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
3 Qiagen pathways for YAP1 Gene
  • 14-3-3 and Regulation of BAD Activity
  • 14-3-3 Induced Intracellular Signaling
  • Akt Signaling

SIGNOR curated interactions for YAP1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for YAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001570 vasculogenesis IEA --
GO:0001894 tissue homeostasis IEA --
GO:0003015 heart process IEA --
GO:0003143 embryonic heart tube morphogenesis IEA --
genes like me logo Genes that share ontologies with YAP1: view

Drugs & Compounds for YAP1 Gene

(3) Drugs for YAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with YAP1: view

Transcripts for YAP1 Gene

mRNA/cDNA for YAP1 Gene

9 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for YAP1

Alternative Splicing Database (ASD) splice patterns (SP) for YAP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e · 12f
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5:
SP6: -
SP7:

Relevant External Links for YAP1 Gene

GeneLoc Exon Structure for
YAP1

Expression for YAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for YAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for YAP1 Gene

This gene is overexpressed in Bone marrow stromal cell (9.3), Uterus (9.2), and Cerebral cortex (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for YAP1 Gene



Protein tissue co-expression partners for YAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for YAP1

SOURCE GeneReport for Unigene cluster for YAP1 Gene:

Hs.503692

mRNA Expression by UniProt/SwissProt for YAP1 Gene:

P46937-YAP1_HUMAN
Tissue specificity: Increased expression seen in some liver and prostate cancers. Isoforms lacking the transactivation domain found in striatal neurons of patients with Huntington disease (at protein level).

Evidence on tissue expression from TISSUES for YAP1 Gene

  • Liver(4.5)
  • Lung(4.5)
  • Nervous system(4.4)
  • Pancreas(4.3)
  • Skin(2.9)
  • Muscle(2.3)
  • Heart(2.2)
  • Thyroid gland(2.2)
  • Intestine(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for YAP1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • face
  • head
  • lip
  • mouth
Abdomen:
  • kidney
General:
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with YAP1: view

No data available for mRNA differential expression in normal tissues for YAP1 Gene

Orthologs for YAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for YAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia YAP1 31 30
  • 99.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 98 (a)
OneToMany
-- 31
  • 93 (a)
OneToMany
YAP1 30
  • 92.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia YAP1 31
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia YAP1 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Yap1 17 31 30
  • 88.71 (n)
dog
(Canis familiaris)
Mammalia YAP1 31 30
  • 87.34 (n)
OneToOne
chicken
(Gallus gallus)
Aves YAP1 31 30
  • 85.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia YAP1 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia yap1 30
  • 76.48 (n)
Str.16747 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7656 30
zebrafish
(Danio rerio)
Actinopterygii yap1 31 30
  • 75.84 (n)
OneToOne
Dr.12698 30
fruit fly
(Drosophila melanogaster)
Insecta yki 31
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7043 31
  • 24 (a)
OneToMany
Species where no ortholog for YAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for YAP1 Gene

ENSEMBL:
Gene Tree for YAP1 (if available)
TreeFam:
Gene Tree for YAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for YAP1: view image

Paralogs for YAP1 Gene

Paralogs for YAP1 Gene

(3) SIMAP similar genes for YAP1 Gene using alignment to 3 proteins:

  • YAP1_HUMAN
  • H0YCI3_HUMAN
  • K0KVU2_HUMAN

Pseudogenes.org Pseudogenes for YAP1 Gene

genes like me logo Genes that share paralogs with YAP1: view

Variants for YAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for YAP1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
711380 Benign: not provided 102,110,869(+) G/A SYNONYMOUS_VARIANT
717444 Likely Benign: not provided 102,209,523(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
722492 Likely Benign: not provided 102,229,779(+) A/G MISSENSE_VARIANT
725467 Likely Benign: not provided 102,111,052(+) C/G SYNONYMOUS_VARIANT
726526 Likely Benign: not provided 102,111,164(+) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for YAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for YAP1 Gene

Variant ID Type Subtype PubMed ID
dgv1269n100 CNV gain 25217958
esv2524266 CNV deletion 19546169
esv3580072 CNV gain 25503493
esv3627522 CNV loss 21293372
nsv1043388 CNV gain 25217958
nsv1069618 CNV deletion 25765185
nsv556141 CNV gain 21841781
nsv832251 CNV loss 17160897
nsv972064 CNV duplication 23825009
nsv975221 CNV duplication 23825009

Variation tolerance for YAP1 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YAP1 Gene

Human Gene Mutation Database (HGMD)
YAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
YAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YAP1 Gene

Disorders for YAP1 Gene

MalaCards: The human disease database

(33) MalaCards diseases for YAP1 Gene - From: LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search YAP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

YAP1_HUMAN
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation (COB1) [MIM:120433]: An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest mental retardation of varying degree and/or sensorineural, mid-frequency hearing loss. {ECO:0000269 PubMed:24462371}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for YAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with YAP1: view

No data available for Genatlas for YAP1 Gene

Publications for YAP1 Gene

  1. Characterization of the mammalian YAP (Yes-associated protein) gene and its role in defining a novel protein module, the WW domain. (PMID: 7782338) Sudol M … Lehman D (The Journal of biological chemistry 1995) 2 3 4 23 54
  2. A coordinated phosphorylation by Lats and CK1 regulates YAP stability through SCF(beta-TRCP). (PMID: 20048001) Zhao B … Guan KL (Genes & development 2010) 3 4 23 54
  3. Structural insights into the YAP and TEAD complex. (PMID: 20123905) Li Z … Xu Y (Genes & development 2010) 3 4 23 54
  4. Yap1 phosphorylation by c-Abl is a critical step in selective activation of proapoptotic genes in response to DNA damage. (PMID: 18280240) Levy D … Shaul Y (Molecular cell 2008) 2 3 4 54
  5. Inactivation of YAP oncoprotein by the Hippo pathway is involved in cell contact inhibition and tissue growth control. (PMID: 17974916) Zhao B … Guan KL (Genes & development 2007) 3 4 23 54

Products for YAP1 Gene

  • Addgene plasmids for YAP1

Sources for YAP1 Gene