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

Gene ID: 1871, updated on 17-Nov-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
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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 (129)

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)

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

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