GeneBe

TEAD1

protein-coding

TEA domain transcription factor 1, the group of TEA domain transcription factors

Gene 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 in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]

Previous symbols:
  • TCF13
  • AA

MANE transcript

NM_021961.6

Inheritance

AD

ClinVar variants

P:2U:143B:71

Top phenotype

Sveinsson choreoretinal atrophy

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr11:12,674,421-12,944,737

External References & Databases

Ensembl (ENSG00000187079)NCBI Gene (7003)OMIM (189967)HGNC:11714GenCCUniProt (P28347)AlphaFoldClinVar (TEAD1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~270.3 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

helicoid peripapillary chorioretinal degenerationLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0007176

Submitter: G2P

helicoid peripapillary chorioretinal degenerationSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0007176

Submitter: Labcorp Genetics (formerly Invitae)

helicoid peripapillary chorioretinal degenerationMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0007176

Submitter: PanelApp Australia

Aicardi syndromeLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0010568

Submitter: Ambry Genetics

helicoid peripapillary chorioretinal degenerationSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0007176

Submitter: Ambry Genetics

helicoid peripapillary chorioretinal degenerationSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0007176

Submitter: Orphanet

Clinical Genomic Database (CGD)

Sveinsson choreoretinal atrophyAD

Manifestation: Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 15016762Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TEAD1 variants in ClinVar

6 Conditions Cataloged
not providedTotal: 245
Inborn genetic diseasesTotal: 41
TEAD1-related disorderTotal: 6
Helicoid peripapillary chorioretinal degenerationTotal: 4
Retinal dystrophyTotal: 2
not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021961.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
65
clinvar
3
clinvar
 69
missense
1
clinvar
1
clinvar
139
clinvar
3
clinvar
 144
nonsense
1
clinvar
 1
start loss
0
frameshift
2
clinvar
 2
splice donor/acceptor (+/-2bp)
0
Total11143683216
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_021961.6RefSeqNP_068780.211MANE Select
ENST00000527636.7EnsemblENSP00000435233.211MANE Select
ENST00000334310.10EnsemblENSP00000334754.611Standard
ENST00000334310.11EnsemblENSP00000334754.611Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Hippo signaling pathway - Homo sapiens (human)
  • Hippo signaling pathway - multiple species - Homo sapiens (human)
  • Mesodermal Commitment Pathway
  • miR-509-3p alteration of YAP1-ECM axis
  • Gene expression (Transcription)

Biological Process

  • transcription initiation from RNA polymerase II promoter
  • hippo signaling
  • positive regulation of transcription, DNA-templated
  • positive regulation of transcription by RNA polymerase II
  • protein-containing complex assembly

Molecular Function

  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • proximal promoter sequence-specific DNA binding
  • RNA polymerase II transcription factor binding
  • transcription regulator recruiting activity
  • transcription coactivator binding

Cellular Component

  • nucleus
  • nucleoplasm
  • transcription factor complex
  • TEAD-1-YAP complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000361985
Coding exons
11
Length
270330
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.661662380.6980.00001352835
Missense (PolyPhen)2466.3890.3615862
Synonymous-0.3669287.61.050.00000542779
Loss of Function4.57024.30.000.00000133279

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
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 cascade wherein MST1/MST2, 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. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and cooperatively to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF). Involved in cardiac development. Binds to the M-CAT motif. {ECO:0000269|PubMed:18579750, ECO:0000269|PubMed:19324877}.;

Recessive Scores

pRec
0.413

Intolerance Scores

RVIS EVS
-0.52
RVIS percentile EVS
21.2

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Indispensability pred.
E
Indispensability score
0.991

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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