Format

Send to:

Choose Destination

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

Gene ID: 1871, updated on 5-Jul-2020

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

Genomic context

See E2F3 in Genome Data Viewer
Location:
6p22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (20401879..20493714)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (20402137..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 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

NHGRI GWAS Catalog

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

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
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific 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 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
contributes_to RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001243076.2NP_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.

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

Support Center