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

    Gene ID: 1871, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:3115
    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
    mouse all
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    Genomic context

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    See E2F3 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (20401879..20493714)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (20273917..20365731)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (20402110..20493945)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr6:20127115-20127242 Neighboring gene NANOG hESC enhancer GRCh37_chr6:20188894-20189395 Neighboring gene membrane bound O-acyltransferase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:20206230-20206981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:20213228-20213728 Neighboring gene uncharacterized LOC101928573 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:20266729-20267928 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:20291927-20292228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24127 Neighboring gene uncharacterized LOC124901272 Neighboring gene uncharacterized LOC124901482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:20402023-20402547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:20411388-20411888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:20411889-20412389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24129 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:20467153-20467794 Neighboring gene RNA, 7SL, cytoplasmic 128, pseudogene Neighboring gene E2F3 intronic transcript 1 Neighboring gene RNA, U6 small nuclear 141, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24131 Neighboring gene uncharacterized LOC124901273 Neighboring gene MPRA-validated peak5719 silencer Neighboring gene uncharacterized LOC105374968 Neighboring gene CDK5 regulatory subunit associated protein 1 like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. E2F3 transcription factor: A promising biomarker in lung cancer. Al Ahmed HA, et al. Cancer Biomark, 2017. PMID 28269748
    2. E2F inhibition synergizes with paclitaxel in lung cancer cell lines. Kurtyka CA, et al. PLoS One, 2014. PMID 24831239, Free PMC Article
    3. Inactivation of the Rb pathway and overexpression of both isoforms of E2F3 are obligate events in bladder tumours with 6p22 amplification. Hurst CD, et al. Oncogene, 2008 Apr 24. PMID 18037967, Free PMC Article
    4. Characterization of E2F3a function in HepG2 liver cancer cells. Li W, et al. J Cell Biochem, 2010 Dec 1. PMID 20803551
    5. Evaluation of biological pathways involved in chemotherapy response in breast cancer. Tordai A, et al. Breast Cancer Res, 2008. PMID 18445275, Free PMC Article

    See all (221) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiR-210-3p enhances intermittent hypoxia-induced tumor progression via inhibition of E2F3.
      Title: MiR-210-3p enhances intermittent hypoxia-induced tumor progression via inhibition of E2F3.
    2. FTO promotes the progression of retinoblastoma through YTHDF2-dependent N6-methyladenosine modification in E2F3.
      Title: FTO promotes the progression of retinoblastoma through YTHDF2-dependent N6-methyladenosine modification in E2F3.
    3. Transcription factor E2F3 activates CDC25B to regulate DNA damage and promote mitoxantrone resistance in stomach adenocarcinoma.
      Title: Transcription factor E2F3 activates CDC25B to regulate DNA damage and promote mitoxantrone resistance in stomach adenocarcinoma.
    4. E2F3 induces DNA damage repair, stem-like properties and therapy resistance in breast cancer.
      Title: E2F3 induces DNA damage repair, stem-like properties and therapy resistance in breast cancer.
    5. Circ_001422 aggravates osteosarcoma progression through targeting miR-497-5p/E2F3 axis.
      Title: Circ_001422 aggravates osteosarcoma progression through targeting miR-497-5p/E2F3 axis.
    6. Interaction of E2F3a and CASP8AP2 Regulates Histone Expression and Chemosensitivity of Leukemic Cells.
      Title: Interaction of E2F3a and CASP8AP2 Regulates Histone Expression and Chemosensitivity of Leukemic Cells.
    7. CircKRT14 upregulates E2F3 by interacting with miR-1256 to act as an oncogenic factor in esophageal cancer.
      Title: CircKRT14 upregulates E2F3 by interacting with miR-1256 to act as an oncogenic factor in esophageal cancer.
    8. LncRNA NEAT1 regulates the growth, migration, and invasion of the human esophageal cancer cells via the miR-377/E2F3 axis.
      Title: LncRNA NEAT1 regulates the growth, migration, and invasion of the human esophageal cancer cells via the miR-377/E2F3 axis.
    9. Hsa_hsa_circ_0081069 promotes the progression of colorectal cancer through sponging miR-665 and regulating E2F3 expression.
      Title: Hsa_hsa_circ_0081069 promotes the progression of colorectal cancer through sponging miR-665 and regulating E2F3 expression.
    10. E2F3 gene expression is a potential negative prognostic marker for localised and MYCN not-amplified neuroblastoma: Results of in silico analysis of 786 samples.
      Title: E2F3 gene expression is a potential negative prognostic marker for localised and MYCN not-amplified neuroblastoma: Results of in silico analysis of 786 samples.
    Submit: New GeneRIF Correction See all GeneRIFs (130)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    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 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of fat cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription initiation at RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 

    General protein information

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    Preferred Names
    transcription factor E2F3

    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_001243076.3 → NP_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:123 → 223
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:49 → 112
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    2. NM_001949.5 → NP_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, Q15000, Q68DT0, Q9BZ44
      Related
      ENSP00000262904.4, ENST00000346618.8
      Conserved Domains (2) summary
      cd14660
      Location:254 → 354
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:180 → 243
      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_000006.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011514324.4 → XP_011512626.1  transcription factor E2F3 isoform X1

      Conserved Domains (2) summary
      cd14660
      Location:248 → 348
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:174 → 237
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    2. XM_047418266.1 → XP_047274222.1  transcription factor E2F3 isoform X7

    3. XM_047418265.1 → XP_047274221.1  transcription factor E2F3 isoform X6

    4. XM_005248865.6 → XP_005248922.1  transcription factor E2F3 isoform X3

      Conserved Domains (2) summary
      cd14660
      Location:129 → 229
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:55 → 118
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    5. XM_005248866.6 → XP_005248923.1  transcription factor E2F3 isoform X5

      See identical proteins and their annotated locations for XP_005248923.1

      Conserved Domains (2) summary
      cd14660
      Location:124 → 224
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:50 → 113
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    6. XM_011514328.4 → XP_011512630.1  transcription factor E2F3 isoform X4

      Conserved Domains (2) summary
      cd14660
      Location:127 → 227
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:53 → 116
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    7. XM_017010330.2 → XP_016865819.1  transcription factor E2F3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      20273917..20365731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354420.1 → XP_054210395.1  transcription factor E2F3 isoform X1

    2. XM_054354426.1 → XP_054210401.1  transcription factor E2F3 isoform X7

    3. XM_054354425.1 → XP_054210400.1  transcription factor E2F3 isoform X6

    4. XM_054354422.1 → XP_054210397.1  transcription factor E2F3 isoform X3

    5. XM_054354424.1 → XP_054210399.1  transcription factor E2F3 isoform X5

    6. XM_054354423.1 → XP_054210398.1  transcription factor E2F3 isoform X4

    7. XM_054354421.1 → XP_054210396.1  transcription factor E2F3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00716.1 GenPept UniProtKB/Swiss-Prot:O00716

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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