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

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcriptional induction of NF-kappaB-inducing kinase by E2F4/5 facilitates collective invasion of GBM cells.
Title: Transcriptional induction of NF-κB-inducing kinase by E2F4/5 facilitates collective invasion of GBM cells.
Enhancer-driven transcription of MCM8 by E2F4 promotes ATR pathway activation and glioma stem cell characteristics.
Title: Enhancer-driven transcription of MCM8 by E2F4 promotes ATR pathway activation and glioma stem cell characteristics.
High Expression of E2F4 Is an Adverse Prognostic Factor and Related to Immune Infiltration in Oral Squamous Cell Carcinoma.
Title: High Expression of E2F4 Is an Adverse Prognostic Factor and Related to Immune Infiltration in Oral Squamous Cell Carcinoma.
E2F4 transcription factor is a prognostic biomarker related to immune infiltration of head and neck squamous cell carcinoma.
Title: E2F4 transcription factor is a prognostic biomarker related to immune infiltration of head and neck squamous cell carcinoma.
E2F4 may be a core transcription factor in the lncRNA-TF regulatory network in cervical cancer.
Title: E2F4 may be a core transcription factor in the lncRNA-TF regulatory network in cervical cancer.
E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6.
Title: E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6.
Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment.
Title: Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment.
Involvement of TFAP2A in the activation of GSDMD gene promoter in hyperoxia-induced ALI.
Title: Involvement of TFAP2A in the activation of GSDMD gene promoter in hyperoxia-induced ALI.
LncRNA HAND2-AS1 represses cervical cancer progression by interaction with transcription factor E2F4 at the promoter of C16orf74.
Title: LncRNA HAND2-AS1 represses cervical cancer progression by interaction with transcription factor E2F4 at the promoter of C16orf74.
E2F4 functions as a tumour suppressor in acute myeloid leukaemia via inhibition of the MAPK signalling pathway by binding to EZH2.
Title: E2F4 functions as a tumour suppressor in acute myeloid leukaemia via inhibition of the MAPK signalling pathway by binding to EZH2.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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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

RH70934 (e-PCR)
- UniSTS:89353

AF021111 (e-PCR)
- UniSTS:51765

G20763 (e-PCR)
- UniSTS:82834

A006F26 (e-PCR)
- UniSTS:82835

E2F4_601 (e-PCR)
- UniSTS:277179

E2F4_V13 (e-PCR)
- UniSTS:277179

G64266 (e-PCR)
- UniSTS:158673

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription activator activity	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	IDA Inferred from Direct Assay 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
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables promoter-specific chromatin 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 protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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

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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)

NM_001950.4 → NP_001941.2 transcription factor E2F4

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:95 → 198

E2F_DD; Dimerization domain of E2F transcription factors

pfam02319
Location:18 → 83

E2F_TDP; E2F/DP family winged-helix DNA-binding domain