Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10413
Gene name Gene Name - the full gene name approved by the HGNC.
Yes1 associated transcriptional regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
YAP1
Synonyms (NCBI Gene) Gene synonyms aliases
COB1, YAP, YAP-1, YAP2, YAP65, YKI
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777249 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained
rs587777250 G>T Pathogenic Coding sequence variant, stop gained
rs1591100766 C>G Likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005047 hsa-let-7b-5p Microarray 17699775
MIRT005580 hsa-miR-630 Immunoblot, Luciferase reporter assay, qRT-PCR 21274007
MIRT006154 hsa-miR-375 Luciferase reporter assay, Microarray, qRT-PCR 21856745
MIRT006154 hsa-miR-375 Luciferase reporter assay, Microarray, qRT-PCR 21856745
MIRT006154 hsa-miR-375 Luciferase reporter assay, Microarray, qRT-PCR 21856745
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 25849865
GO:0000902 Process Cell morphogenesis IEA
GO:0000976 Function Transcription cis-regulatory region binding IDA 18280240
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0001570 Process Vasculogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606608 16262 ENSG00000137693
Protein
UniProt ID P46937
Protein name Transcriptional coactivator YAP1 (Yes-associated protein 1) (Protein yorkie homolog) (Yes-associated protein YAP65 homolog)
Protein function 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 apo
PDB 1JMQ , 1K5R , 1K9Q , 1K9R , 2LAW , 2LAX , 2LAY , 2LTV , 2LTW , 3KYS , 3MHR , 4RE1 , 4REX , 5OAQ , 5YDX , 5YDY , 6G6X , 6G8I , 6G8J , 6G8K , 6G8L , 6G8P , 6G8Q , 6GE3 , 6GE4 , 6GE5 , 6GE6 , 6GEC , 6GEE , 6GEG , 6GEI , 6GEK , 6HIK , 6HIL , 6Q2X , 7O07 , 8A8Q , 8A8R , 8C2F , 8WRG , 9FZA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 173 202 WW domain Domain
PF00397 WW 232 261 WW domain Domain
Tissue specificity 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). {ECO:0000269|PubMed:16461361, ECO:0000269|PubMe
Sequence
MDPGQQPPPQPAPQGQGQPPSQPPQGQGPPSGPGQPAPAATQAAPQAPPAGHQIVHVRGD
SETDLEALFNAVMNPKTANVPQTVPMRLRKLPDSFFKPPEPKSHSRQASTDAGTAGALTP
QHVRAHSSPASLQLGAVSPGTLTPTGVVSGPAATPTAQHLRQSSFEIPDDVPLPAGWEMA
KTSSGQRYFLNHIDQTTTWQDP
RKAMLSQMNVTAPTSPPVQQNMMNSASGPLPDGWEQAM
TQDGEIYYINHKNKTTSWLDP
RLDPRFAMNQRISQSAPVKQPPPLAPQSPQGGVMGGSNS
NQQQQMRLQQLQMEKERLRLKQQELLRQAMRNINPSTANSPKCQELALRSQLPTLEQDGG
TQNPVSSPGMSQELRTMTTNSSDPFLNSGTYHSRDESTDSGLSMSSYSVPRTPDDFLNSV
DEMDTGDTINQSTLPSQQNRFPDYLEAIPGTNVDLGTLEGDGMNIEGEELMPSLQEALSS
DILNDMESVLAATKLDKESFLTWL
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Hippo signaling pathway
Hippo signaling pathway - multiple species
  Nuclear signaling by ERBB4
Signaling by Hippo
YAP1- and WWTR1 (TAZ)-stimulated gene expression
RUNX1 regulates transcription of genes involved in differentiation of HSCs
RUNX3 regulates YAP1-mediated transcription
EGR2 and SOX10-mediated initiation of Schwann cell myelination
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ocular Coloboma, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation uveal coloboma-cleft lip and palate-intellectual disability rs587777250 N/A
congenital ocular coloboma Congenital ocular coloboma rs587777249 N/A
Multiple myeloma multiple myeloma rs1591100766 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lung Cancer Non-small cell lung cancer Together, this human tumor data strengthens our findings and provides further evidence to support the hypothesis that RIT1M90I and YAP1 synergize to promote the growth and proliferation of non-small cell lung cancer tumors. 35419481 CBGDA
Polycystic Ovary Syndrome Polycystic ovary syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 32749065
Acidosis Associate 35414794
Acute Kidney Injury Inhibit 32160412
Acute Kidney Injury Associate 36195583
Adenocarcinoma Associate 23298489, 23502453, 26884866, 28177901, 30604042
Adenocarcinoma of Lung Associate 18703216, 23298489, 26884866, 31187136, 31412817, 31592232, 33486901, 35435136, 36123390, 37801008, 37968341
Adenomyosis Associate 34082774
Adrenocortical Carcinoma Associate 27705928, 34257617
Alzheimer Disease Associate 37549144
Anal Canal Carcinoma Associate 32436169