Gene Gene information from NCBI Gene database.
Entrez ID 7003
Gene name TEA domain transcription factor 1
Gene symbol TEAD1
Synonyms (NCBI Gene)
AANTEF-1REF1TCF-13TCF13TEAD-1TEF-1
Chromosome 11
Chromosome location 11p15.3
Summary This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs11567847 T>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1497
miRTarBase ID miRNA Experiments Reference
MIRT002701 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002701 hsa-miR-124-3p Microarray 15685193
MIRT027571 hsa-miR-98-5p Microarray 19088304
MIRT044437 hsa-miR-320a CLASH 23622248
MIRT367734 hsa-miR-1324 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP 26045994
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189967 11714 ENSG00000187079
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28347
Protein name Transcriptional enhancer factor TEF-1 (NTEF-1) (Protein GT-IIC) (TEA domain family member 1) (TEAD-1) (Transcription factor 13) (TCF-13)
Protein function Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cas
PDB 2HZD , 3KYS , 4RE1 , 4Z8E , 5NNX , 6HIL , 6IM5 , 7CMM , 7ZJP , 8Q68 , 9FZA , 9GAX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01285 TEA 31 100 TEA/ATTS domain Domain
PF17725 YBD 214 423 YAP binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in skeletal muscle. Lower levels in pancreas, placenta, and heart.
Sequence
Sequence length 426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hippo signaling pathway
Hippo signaling pathway - multiple species
  YAP1- and WWTR1 (TAZ)-stimulated gene expression
RUNX3 regulates YAP1-mediated transcription
EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Helicoid peripapillary chorioretinal degeneration Pathogenic rs11567847 RCV000013465
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AICARDI SYNDROME GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 11846302
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 12230304, 31036086
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30582455
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27535970, 30214007
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 24727738
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 26977530
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 25672588, 31413178
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31303470
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28349829, 33760147, 36517508, 36680650 Associate
★☆☆☆☆
Found in Text Mining only