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    E2F3 E2F transcription factor 3 [ Homo sapiens (human) ]

    Gene ID: 1871, updated on 19-Sep-2021

    Summary

    Official Symbol
    E2F3provided by HGNC
    Official Full Name
    E2F transcription factor 3provided by HGNC
    Primary source
    HGNC:HGNC:3115
    See related
    Ensembl:ENSG00000112242 MIM:600427
    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
    E2F-3
    Summary
    This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.1), appendix (RPKM 3.3) and 24 other tissues See more
    Orthologs
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    Genomic context

    See E2F3 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (20401879..20493714)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (20402110..20493945)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928573 Neighboring gene uncharacterized LOC107986576 Neighboring gene RNA, 7SL, cytoplasmic 128, pseudogene Neighboring gene E2F3 intronic transcript 1 Neighboring gene RNA, U6 small nuclear 141, pseudogene Neighboring gene uncharacterized LOC105374968 Neighboring gene CDK5 regulatory subunit associated protein 1 like 1 Neighboring gene ribosomal protein L36a pseudogene 25

    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

    Associated conditions

    Description Tests
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0075, MGC104598, DKFZp686C18211

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of RNA polymerase II transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

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    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_029591.1 RefSeqGene

      Range
      4974..96809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243076.3NP_001230005.1  transcription factor E2F3 isoform 2

      See identical proteins and their annotated locations for NP_001230005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as b) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The resulting isoform is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL132775, AL136303, BU633769
      Consensus CDS
      CCDS58999.1
      UniProtKB/Swiss-Prot
      O00716
      Related
      ENSP00000443418.1, ENST00000535432.2
      Conserved Domains (2) summary
      cd14660
      Location:123223
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:49112
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    2. NM_001949.5NP_001940.1  transcription factor E2F3 isoform 1

      See identical proteins and their annotated locations for NP_001940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as a) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL132775, AL136303, BU633769, Y10479
      Consensus CDS
      CCDS4545.1
      UniProtKB/Swiss-Prot
      O00716
      Related
      ENSP00000262904.4, ENST00000346618.8
      Conserved Domains (2) summary
      cd14660
      Location:254354
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:180243
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      20401879..20493714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514324.3XP_011512626.1  transcription factor E2F3 isoform X1

      Conserved Domains (2) summary
      cd14660
      Location:248348
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:174237
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    2. XM_005248865.5XP_005248922.1  transcription factor E2F3 isoform X3

      Conserved Domains (2) summary
      cd14660
      Location:129229
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:55118
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    3. XM_005248866.5XP_005248923.1  transcription factor E2F3 isoform X5

      See identical proteins and their annotated locations for XP_005248923.1

      Conserved Domains (2) summary
      cd14660
      Location:124224
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:50113
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    4. XM_011514328.3XP_011512630.1  transcription factor E2F3 isoform X4

      Conserved Domains (2) summary
      cd14660
      Location:127227
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:53116
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    5. XM_017010330.1XP_016865819.1  transcription factor E2F3 isoform X2

    RNA

    1. XR_001743195.2 RNA Sequence

    2. XR_001743194.2 RNA Sequence

    3. XR_002956265.1 RNA Sequence

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