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E2F4 E2F transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 1874, updated on 19-Sep-2024

Summary

Official Symbol
E2F4provided by HGNC
Official Full Name
E2F transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:3118
See related
Ensembl:ENSG00000205250 MIM:600659; AllianceGenome:HGNC:3118
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-4
Summary
The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 45.6), placenta (RPKM 31.6) and 25 other tissues See more
Orthologs
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Genomic context

See E2F4 in Genome Data Viewer
Location:
16q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67192155..67198918)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72986439..72993202)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67226058..67232821)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67209861-67210290 Neighboring gene nucleolar protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67211873-67212416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67212417-67212958 Neighboring gene microtubule associated tyrosine carboxypeptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10956 Neighboring gene exocyst complex component 3 like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67225781-67226711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7593 Neighboring gene engulfment and cell motility 3 Neighboring gene microRNA 328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67241386-67241953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67241954-67242520 Neighboring gene F-box and leucine rich repeat protein, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10959

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 coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Binding of HIV-1 Tat to E2F4 is mediated through amino acids 1-49 of Tat and 1-184 of E2F4, allowing Tat to recruit E2F4 to promoter elements to exert its multiple biological activities PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in animal organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in blood circulation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell volume homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in centriole assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in multi-ciliated epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
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 transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transcription factor E2F4
Names
E2F transcription factor 4, p107/p130-binding
p107/p130-binding protein

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.

mRNA and Protein(s)

  1. NM_001950.4NP_001941.2  transcription factor E2F4

    See identical proteins and their annotated locations for NP_001941.2

    Status: REVIEWED

    Source sequence(s)
    AC040160, BC021050, BU857680
    Consensus CDS
    CCDS32464.1
    UniProtKB/Swiss-Prot
    A6NGR8, B5BU56, Q12991, Q15328, Q16254
    Related
    ENSP00000368686.3, ENST00000379378.8
    Conserved Domains (2) summary
    cd14660
    Location:95198
    E2F_DD; Dimerization domain of E2F transcription factors
    pfam02319
    Location:1883
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    67192155..67198918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    72986439..72993202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)