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

    Gene ID: 7004, updated on 1-Jul-2024

    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; AllianceGenome:HGNC:11717
    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
    NEW
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    Genomic context

    See TEAD4 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (2959397..3040676)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (2965518..3046795)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (3068563..3149842)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene TUB like protein 3 Neighboring gene uncharacterized LOC124902859 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:3068733-3069468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:3073099-3073924 Neighboring gene RNA, U6 small nuclear 1315, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:3075837-3076336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:3090196-3090815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3100825-3101326 Neighboring gene Sharpr-MPRA regulatory region 741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3112529-3113410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3122802-3123643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3141331-3141892 Neighboring gene Sharpr-MPRA regulatory region 13344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:3192842-3193517 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:3193518-3194192 Neighboring gene Sharpr-MPRA regulatory region 10584 Neighboring gene ribosomal protein L13a pseudogene 24 Neighboring gene tetraspanin 9 Neighboring gene Sharpr-MPRA regulatory region 6988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3244823-3245324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3245325-3245824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3245886-3246736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3257812-3258357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:3260221-3261034 Neighboring gene TSPAN9 intronic transcript 1

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC9014

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hippo signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
     
    involved_in trophectodermal cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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
      H0Y308, Q15561, Q6MZR9, Q8NEV5, Q92883, Q96BK2
      UniProtKB/TrEMBL
      Q53GI4
      Related
      ENSP00000352926.3, ENST00000359864.8
      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/TrEMBL
      A0A0A0MRF3
      Related
      ENSP00000351184.3, ENST00000358409.7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      2965518..3046795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)