E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] See more...

Aliases for E2F7 Gene

Aliases for E2F7 Gene

  • E2F Transcription Factor 7 2 3 5
  • Transcription Factor E2F7 3 4
  • E2F-7 3 4
  • E2F7 5

External Ids for E2F7 Gene

Previous GeneCards Identifiers for E2F7 Gene

  • GC12M075917
  • GC12M077415
  • GC12M074467

Summaries for E2F7 Gene

Entrez Gene Summary for E2F7 Gene

  • E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]

GeneCards Summary for E2F7 Gene

E2F7 (E2F Transcription Factor 7) is a Protein Coding gene. Diseases associated with E2F7 include Retinal Cancer and Bilateral Retinoblastoma. Among its related pathways are E2F transcription factor network and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is E2F8.

UniProtKB/Swiss-Prot Summary for E2F7 Gene

  • Atypical E2F transcription factor that participates in various processes such as angiogenesis, polyploidization of specialized cells and DNA damage response. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1. Acts as a regulator of S-phase by recognizing and binding the E2-related site 5'-TTCCCGCC-3' and mediating repression of G1/S-regulated genes. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Also involved in DNA damage response: up-regulated by p53/TP53 following genotoxic stress and acts as a downstream effector of p53/TP53-dependent repression by mediating repression of indirect p53/TP53 target genes involved in DNA replication. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. Acts as a negative regulator of keratinocyte differentiation.

Gene Wiki entry for E2F7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for E2F7 Gene

Genomics for E2F7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for E2F7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J077058 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 607.5 +2.7 2677 8 SP1 HNRNPL PRDM10 ZNF629 KDM1A POLR2A ZNF692 BACH1 FOS JUND E2F7 lnc-ZDHHC17-18 lnc-ZDHHC17-9 CSRP2
GH12J077031 Enhancer 1 FANTOM5 Ensembl ENCODE 4.6 +33.0 33012 2.7 PRDM1 JUND CEBPB FOS ATF2 HLF POLR2A CREB1 E2F7 OSBPL8 lnc-ZDHHC17-9 CSRP2
GH12J077119 Enhancer 0.8 Ensembl ENCODE 4.3 -55.5 -55525 5 CEBPB JUND BRCA1 JUN FOS FOSL1 MAX EP300 CEBPG STAT3 LOC105369853 E2F7 lnc-NAV3-5 NAV3
GH12J077070 Enhancer 0.7 Ensembl 0.4 -5.1 -5121 1.4 TCF12 IKZF2 RCOR1 PKNOX1 TOE1 DPF2 RELB RUNX3 RAD51 BCL11A lnc-ZDHHC17-18 E2F7 piR-32670-002 NAV3
GH12J077049 Enhancer 0.7 ENCODE 0.4 +15.6 15624 0.2 CTCF FOXA1 ZNF143 REST RAD21 TRIM22 SOX6 SMARCA5 FOXK2 ZNF444 E2F7 lnc-ZDHHC17-9 CSRP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around E2F7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for E2F7

Top Transcription factor binding sites by QIAGEN in the E2F7 gene promoter:
  • E47
  • Evi-1
  • FOXD3
  • Ik-2
  • Pax-6
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Sp1
  • YY1

Genomic Locations for E2F7 Gene

Genomic Locations for E2F7 Gene
chr12:77,021,248-77,065,580
(GRCh38/hg38)
Size:
44,333 bases
Orientation:
Minus strand
chr12:77,415,026-77,459,360
(GRCh37/hg19)
Size:
44,335 bases
Orientation:
Minus strand

Genomic View for E2F7 Gene

Genes around E2F7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
E2F7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for E2F7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for E2F7 Gene

Proteins for E2F7 Gene

  • Protein details for E2F7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AV8-E2F7_HUMAN
    Recommended name:
    Transcription factor E2F7
    Protein Accession:
    Q96AV8
    Secondary Accessions:
    • A6NC74
    • B2RMR7
    • B3KTZ5
    • B3KUP8
    • B5MED9

    Protein attributes for E2F7 Gene

    Size:
    911 amino acids
    Molecular mass:
    99888 Da
    Quaternary structure:
    • Homodimer and heterodimer: mainly forms homodimers and, to a lesser extent, heterodimers with E2F8. Dimerization is important for DNA-binding. Interacts with HIF1A.
    SequenceCaution:
    • Sequence=BAG53257.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG53510.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for E2F7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for E2F7 Gene

Post-translational modifications for E2F7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for E2F7 Gene

Domains & Families for E2F7 Gene

Gene Families for E2F7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for E2F7 Gene

Suggested Antigen Peptide Sequences for E2F7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38997 fis, clone NT2RI2020703, highly similar to Homo sapiens E2F transcription factor 7 (E2F7), mRNA (B3KTZ5_HUMAN)
  • Transcription factor E2F7 (E2F7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96AV8

UniProtKB/Swiss-Prot:

E2F7_HUMAN :
  • In contrast to classical members of the E2F transcription factor, atypical members contain 2 DNA-binding domains and regulate transcription in a DP-independent manner. Both DNA-binding domains are required for DNA-binding and are proposed to form an intramolecular structure that is similar to the winged helix structure of the E2F-DP heterodimer (PubMed:14633988).
  • Belongs to the E2F/DP family.
Domain:
  • In contrast to classical members of the E2F transcription factor, atypical members contain 2 DNA-binding domains and regulate transcription in a DP-independent manner. Both DNA-binding domains are required for DNA-binding and are proposed to form an intramolecular structure that is similar to the winged helix structure of the E2F-DP heterodimer (PubMed:14633988).
Family:
  • Belongs to the E2F/DP family.
genes like me logo Genes that share domains with E2F7: view

Function for E2F7 Gene

Molecular function for E2F7 Gene

UniProtKB/Swiss-Prot Function:
Atypical E2F transcription factor that participates in various processes such as angiogenesis, polyploidization of specialized cells and DNA damage response. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1. Acts as a regulator of S-phase by recognizing and binding the E2-related site 5'-TTCCCGCC-3' and mediating repression of G1/S-regulated genes. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Also involved in DNA damage response: up-regulated by p53/TP53 following genotoxic stress and acts as a downstream effector of p53/TP53-dependent repression by mediating repression of indirect p53/TP53 target genes involved in DNA replication. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. Acts as a negative regulator of keratinocyte differentiation.
UniProtKB/Swiss-Prot Induction:
By p53/TP53 following DNA damage: expression is directly activated by p53/TP53 (at protein level).

Phenotypes From GWAS Catalog for E2F7 Gene

Gene Ontology (GO) - Molecular Function for E2F7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IDA 22903062
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
genes like me logo Genes that share ontologies with E2F7: view
genes like me logo Genes that share phenotypes with E2F7: view

Animal Models for E2F7 Gene

MGI Knock Outs for E2F7:
  • E2f7 E2f7<tm1.1Gle>

Animal Model Products

CRISPR Products

Targeted motifs for E2F7 Gene
HOMER Transcription Factor Regulatory Elements motif E2F7
  • Consensus sequence: VDTTTCCCGCCA Submotif: canonical Cell Type: Hela GEO ID: GSE32673

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for E2F7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for E2F7 Gene

Localization for E2F7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for E2F7 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for E2F7 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for E2F7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with E2F7: view

Pathways & Interactions for E2F7 Gene

genes like me logo Genes that share pathways with E2F7: view

Gene Ontology (GO) - Biological Process for E2F7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA,IDA 22802528
GO:0001890 placenta development ISS --
GO:0002040 sprouting angiogenesis IMP 22903062
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with E2F7: view

No data available for SIGNOR curated interactions for E2F7 Gene

Drugs & Compounds for E2F7 Gene

(1) Drugs for E2F7 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tamoxifen Approved Pharma Agonist, Antagonist TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 451
genes like me logo Genes that share compounds with E2F7: view

Transcripts for E2F7 Gene

mRNA/cDNA for E2F7 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for E2F7

Alternative Splicing Database (ASD) splice patterns (SP) for E2F7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: -
SP3:
SP4:
SP5: - -

Relevant External Links for E2F7 Gene

GeneLoc Exon Structure for
E2F7

Expression for E2F7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for E2F7 Gene

mRNA differential expression in normal tissues according to GTEx for E2F7 Gene

This gene is overexpressed in Testis (x4.3).

Protein differential expression in normal tissues from HIPED for E2F7 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for E2F7 Gene



Protein tissue co-expression partners for E2F7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for E2F7

SOURCE GeneReport for Unigene cluster for E2F7 Gene:

Hs.416375

Evidence on tissue expression from TISSUES for E2F7 Gene

  • Liver(2.2)
  • Blood(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with E2F7: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for E2F7 Gene

Orthologs for E2F7 Gene

This gene was present in the common ancestor of animals.

Orthologs for E2F7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia E2F7 30 31
  • 99.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia E2f7 30
  • 85.26 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia E2F7 31
  • 84 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia E2F7 30 31
  • 83.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia E2F7 30 31
  • 81.08 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia E2f7 30 17 31
  • 80.75 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia E2F7 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves E2F7 30 31
  • 64.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia E2F7 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia e2f7 30
  • 60.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16369 30
Zebrafish
(Danio rerio)
Actinopterygii e2f7 30 31
  • 55.73 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea efl-3 31
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToOne
Species where no ortholog for E2F7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for E2F7 Gene

ENSEMBL:
Gene Tree for E2F7 (if available)
TreeFam:
Gene Tree for E2F7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for E2F7: view image

Paralogs for E2F7 Gene

Paralogs for E2F7 Gene

(1) SIMAP similar genes for E2F7 Gene using alignment to 5 proteins:

  • E2F7_HUMAN
  • F8VSE7_HUMAN
  • F8VXV5_HUMAN
  • H0YHW2_HUMAN
  • H0YIF4_HUMAN
genes like me logo Genes that share paralogs with E2F7: view

Variants for E2F7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for E2F7 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
707899 Benign: not provided 77,024,180(-) T/G SYNONYMOUS_VARIANT
708022 Benign: not provided 77,030,281(-) G/A SYNONYMOUS_VARIANT
726441 Benign: not provided 77,024,075(-) C/T SYNONYMOUS_VARIANT
773662 Benign: not provided 77,025,594(-) G/A SYNONYMOUS_VARIANT
782129 Benign: not provided 77,033,873(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for E2F7 Gene

Variation tolerance for E2F7 Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for E2F7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
E2F7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for E2F7 Gene

Disorders for E2F7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for E2F7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinal cancer
  • malignant neoplasm of retina
bilateral retinoblastoma
familial retinoblastoma
  • retinoblastoma
ocular cancer
  • eye neoplasm
eye disease
  • abnormality of the eye
- elite association - COSMIC cancer census association via MalaCards
Search E2F7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for E2F7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with E2F7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for E2F7 Gene

Publications for E2F7 Gene

  1. E2F7 and E2F8 promote angiogenesis through transcriptional activation of VEGFA in cooperation with HIF1. (PMID: 22903062) Weijts BG … de Bruin A (The EMBO journal 2012) 3 4
  2. E2F7, a novel target, is up-regulated by p53 and mediates DNA damage-dependent transcriptional repression. (PMID: 22802528) Carvajal LA … Manfredi JJ (Genes & development 2012) 3 4
  3. The atypical E2F family member E2F7 couples the p53 and RB pathways during cellular senescence. (PMID: 22802529) Aksoy O … Lowe SW (Genes & development 2012) 3 4
  4. Loss of E2F7 expression is an early event in squamous differentiation and causes derepression of the key differentiation activator Sp1. (PMID: 21248772) Hazar-Rethinam M … Saunders NA (The Journal of investigative dermatology 2011) 3 4
  5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 41

Products for E2F7 Gene

Sources for E2F7 Gene