TEAD3

TEA domain transcription factor 3, the group of TEA domain transcription factors

Basic information

Region (hg38): 6:35473597-35497079

Previous symbols: [ "TEAD5" ]

Links

ENSG00000007866 ∙ NCBI:7005 ∙ OMIM:603170 ∙ HGNC:11716 ∙ Uniprot:Q99594 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TEAD3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEAD3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in TEAD3

This is a list of pathogenic ClinVar variants found in the TEAD3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-35475055-C-T		not specified	Uncertain significance (Aug 26, 2022)
6-35475085-G-A		not specified	Uncertain significance (Dec 10, 2024)
6-35475145-G-A		not specified	Uncertain significance (Aug 14, 2024)
6-35475150-G-A		not specified	Uncertain significance (Jun 29, 2022)
6-35475390-G-T		not specified	Uncertain significance (Jun 16, 2024)
6-35475417-C-A		not specified	Uncertain significance (Apr 05, 2023)
6-35475448-C-T		not specified	Uncertain significance (May 30, 2023)
6-35475449-G-A		not specified	Uncertain significance (Jun 29, 2023)
6-35475460-C-T		not specified	Uncertain significance (Apr 20, 2024)
6-35475571-C-G		not specified	Uncertain significance (Nov 06, 2023)
6-35475583-C-T		not specified	Uncertain significance (Oct 28, 2024)
6-35475616-C-T		not specified	Uncertain significance (Sep 14, 2022)
6-35475703-C-T		not specified	Uncertain significance (Nov 30, 2022)
6-35476004-T-C		not specified	Uncertain significance (Dec 21, 2023)
6-35476065-C-T		not specified	Uncertain significance (Nov 17, 2022)
6-35476315-C-T		not specified	Uncertain significance (Sep 08, 2024)
6-35476351-C-T		not specified	Uncertain significance (Dec 04, 2024)
6-35476352-G-A		not specified	Uncertain significance (Aug 02, 2022)
6-35476376-G-A		not specified	Uncertain significance (Nov 18, 2022)
6-35476383-C-A		not specified	Uncertain significance (Feb 07, 2023)
6-35477319-G-A		not specified	Uncertain significance (Jun 05, 2023)
6-35477335-G-A		not specified	Uncertain significance (Oct 04, 2022)
6-35478281-G-A		not specified	Uncertain significance (Sep 15, 2021)
6-35478478-G-A		not specified	Uncertain significance (Oct 26, 2024)
6-35478493-G-T		not specified	Uncertain significance (Feb 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEAD3	protein_coding	protein_coding	ENST00000338863	12	23480

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.994	0.00638	125438	0	4	125442	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.76	141	268	0.526	0.0000166	2823
Missense in Polyphen		34	99.781	0.34075		1158
Synonymous	1.93	88	114	0.770	0.00000758	839
Loss of Function	4.15	2	23.9	0.0838	0.00000110	265

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000355	0.0000353
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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 to multiple functional elements of the human chorionic somatomammotropin-B gene enhancer. {ECO:0000269|PubMed:18579750, ECO:0000269|PubMed:19324877}.
• Pathway: Hippo signaling pathway - Homo sapiens (human);Hippo signaling pathway - multiple species - Homo sapiens (human);miR-509-3p alteration of YAP1-ECM axis;Gene expression (Transcription);RUNX3 regulates YAP1-mediated transcription;Transcriptional regulation by RUNX3;Generic Transcription Pathway;RNA Polymerase II Transcription;YAP1- and WWTR1 (TAZ)-stimulated gene expression (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 45.13

Haploinsufficiency Scores

• pHI: 0.519
• ghis: 0.511

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.834

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tead3
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;female pregnancy;hippo signaling;positive regulation of transcription by RNA polymerase II;asymmetric neuroblast division
• Cellular component: nucleus;nucleoplasm;transcription factor complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II transcription factor binding;DNA-binding transcription factor activity;protein binding;sequence-specific DNA binding;transcription regulatory region DNA binding