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TEAD4 TEA domain transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 7004, updated on 21-Jun-2020

Summary

Official Symbol
TEAD4provided by HGNC
Official Full Name
TEA domain transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:11717
See related
Ensembl:ENSG00000197905 MIM:601714
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TEF3; RTEF1; TEF-3; EFTR-2; TEFR-1; TCF13L1; hRTEF-1B
Summary
This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 4.8), placenta (RPKM 4.3) and 23 other tissues See more
Orthologs

Genomic context

See TEAD4 in Genome Data Viewer
Location:
12p13.33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (2959397..3040676)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (3068478..3149842)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TUB like protein 3 Neighboring gene RNA, U6 small nuclear 1315, pseudogene Neighboring gene ribosomal protein L13a pseudogene 24 Neighboring gene tetraspanin 9 Neighboring gene ribosomal protein S27 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9014

Gene Ontology Provided by GOA

Process Evidence Code Pubs
embryonic organ development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hippo signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hippo signaling IDA
Inferred from Direct Assay
more info
PubMed 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transcriptional enhancer factor TEF-3
Names
TEA domain family member 4
related transcription enhancer factor 1B
transcription factor 13-like 1
transcription factor RTEF-1
transcriptional enhancer factor 1-related
transcriptional enhancer factor 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029958.1 RefSeqGene

    Range
    5086..86365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003213.4NP_003204.2  transcriptional enhancer factor TEF-3 isoform 1

    See identical proteins and their annotated locations for NP_003204.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1), and initiates translation from a non-AUG (UUG) codon.
    Source sequence(s)
    BC015497, DA210894, U63824
    Consensus CDS
    CCDS31729.1
    UniProtKB/Swiss-Prot
    Q15561
    Related
    ENSP00000352926.2, ENST00000359864.7
    Conserved Domains (1) summary
    smart00426
    Location:38105
    TEA; TEA domain
  2. NM_201441.3NP_958849.1  transcriptional enhancer factor TEF-3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in an isoform (2) that is missing an internal segment compared to isoform 1. It also initiates translation from a non-AUG (UUG) codon.
    Source sequence(s)
    AY101179, BM555991, U63824
    Consensus CDS
    CCDS31730.1
    UniProtKB/Swiss-Prot
    Q15561
    Related
    ENSP00000351184.2, ENST00000358409.6
    Conserved Domains (1) summary
    smart00426
    Location:38105
    TEA; TEA domain
  3. NM_201443.3NP_958851.1  transcriptional enhancer factor TEF-3 isoform 3

    See identical proteins and their annotated locations for NP_958851.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the exon containing the non-AUG (UUG) translation initiation codon compared to variant 1. It uses an in-frame, downstream AUG, resulting in an isoform (3) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BX640921, DA886817, U63824
    Consensus CDS
    CCDS41737.1
    UniProtKB/Swiss-Prot
    Q15561
    Related
    ENSP00000380311.2, ENST00000397122.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    2959397..3040676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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