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    E2F7 E2F transcription factor 7 [ Homo sapiens (human) ]

    Gene ID: 144455, updated on 3-Nov-2024

    Summary

    Official Symbol
    E2F7provided by HGNC
    Official Full Name
    E2F transcription factor 7provided by HGNC
    Primary source
    HGNC:HGNC:23820
    See related
    Ensembl:ENSG00000165891 MIM:612046; AllianceGenome:HGNC:23820
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables DNA-binding transcription repressor activity; cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; regulation of transcription by RNA polymerase II; and sprouting angiogenesis. Located in nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.5) and 16 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See E2F7 in Genome Data Viewer
    Location:
    12q21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (77021251..77065569, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (76999082..77043421, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (77415031..77459349, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4675 Neighboring gene cysteine and glycine rich protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:77313616-77314124 Neighboring gene Sharpr-MPRA regulatory region 9474 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:77329846-77331045 Neighboring gene NANOG hESC enhancer GRCh37_chr12:77358407-77359020 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:77425832-77427031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4676 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:77459297-77460003 Neighboring gene Sharpr-MPRA regulatory region 14502 Neighboring gene uncharacterized LOC105369853 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12981

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chorionic trophoblast cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hepatocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of G1/S transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cytokinesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in placenta development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA endoreduplication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in trophoblast giant cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    transcription factor E2F7
    Names
    E2F-7

    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.

    mRNA and Protein(s)

    1. NM_203394.3NP_976328.2  transcription factor E2F7

      See identical proteins and their annotated locations for NP_976328.2

      Status: VALIDATED

      Source sequence(s)
      AC025161, AI380315, AK097677, BC017481, DB159890
      Consensus CDS
      CCDS9016.1
      UniProtKB/Swiss-Prot
      A6NC74, B2RMR7, B3KTZ5, B3KUP8, B5MED9, Q96AV8
      Related
      ENSP00000323246.7, ENST00000322886.12
      Conserved Domains (1) summary
      pfam02319
      Location:144211
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      77021251..77065569 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537966.3XP_011536268.1  transcription factor E2F7 isoform X1

      Conserved Domains (1) summary
      pfam02319
      Location:144211
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    2. XM_011537969.3XP_011536271.1  transcription factor E2F7 isoform X2

      Conserved Domains (1) summary
      pfam02319
      Location:43110
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      76999082..77043421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371191.1XP_054227166.1  transcription factor E2F7 isoform X1

    2. XM_054371192.1XP_054227167.1  transcription factor E2F7 isoform X2