This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex... See more...

Aliases for E2F6 Gene

Aliases for E2F6 Gene

  • E2F Transcription Factor 6 2 3 5
  • Transcription Factor E2F6 3 4
  • E2F-6 3 4

External Ids for E2F6 Gene

Previous GeneCards Identifiers for E2F6 Gene

  • GC02M011370
  • GC02M011636
  • GC02M011607
  • GC02M011536
  • GC02M011501
  • GC02M011584

Summaries for E2F6 Gene

Entrez Gene Summary for E2F6 Gene

  • This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for E2F6 Gene

E2F6 (E2F Transcription Factor 6) is a Protein Coding gene. Diseases associated with E2F6 include Retinal Cancer and Bilateral Retinoblastoma. Among its related pathways are E2F transcription factor network and Cell cycle Cell cycle (generic schema). 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 E2F3.

UniProtKB/Swiss-Prot Summary for E2F6 Gene

  • Inhibitor of E2F-dependent transcription. Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3'. Has a preference for the 5'-TTTCCCGC-3' E2F recognition site. E2F6 lacks the transcriptional activation and pocket protein binding domains. Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexpression delays the exit of cells from the S-phase.

Additional gene information for E2F6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for E2F6 Gene

Genomics for E2F6 Gene

GeneHancer (GH) Regulatory Elements for E2F6 Gene

Promoters and enhancers for E2F6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around E2F6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for E2F6

Top Transcription factor binding sites by QIAGEN in the E2F6 gene promoter:
  • AML1a
  • Arnt
  • c-Myc
  • HNF-1
  • HNF-1A
  • Max
  • MZF-1
  • NF-kappaB1
  • SRY
  • TFIID

Genomic Locations for E2F6 Gene

Genomic Locations for E2F6 Gene
chr2:11,444,375-11,466,177
(GRCh38/hg38)
Size:
21,803 bases
Orientation:
Minus strand
chr2:11,584,501-11,606,297
(GRCh37/hg19)
Size:
21,797 bases
Orientation:
Minus strand

Genomic View for E2F6 Gene

Genes around E2F6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
E2F6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for E2F6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for E2F6 Gene

Proteins for E2F6 Gene

  • Protein details for E2F6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75461-E2F6_HUMAN
    Recommended name:
    Transcription factor E2F6
    Protein Accession:
    O75461
    Secondary Accessions:
    • A8K2Z8
    • G5E936
    • O60544
    • Q53QY9
    • Q6Q9Z6
    • Q7Z2H6

    Protein attributes for E2F6 Gene

    Size:
    281 amino acids
    Molecular mass:
    31844 Da
    Quaternary structure:
    • Component of the DRTF1/E2F transcription factor complex. Forms heterodimers with DP family members. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.

    Alternative splice isoforms for E2F6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for E2F6 Gene

Post-translational modifications for E2F6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for E2F6 Gene

Domains & Families for E2F6 Gene

Gene Families for E2F6 Gene

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

Protein Domains for E2F6 Gene

Blocks:
  • Transcription factor E2F/dimerisation partner (TDP)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for E2F6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56713, highly similar to Transcription factor E2F6 (B7Z1I8_HUMAN)
  • Transcription factor E2F6 (E2F6_HUMAN)
  • cDNA FLJ38878 fis, clone MESAN2015365, highly similar to TRANSCRIPTION FACTOR E2F6 (Q53YM3_HUMAN)
  • E2F6 splice variant f (Q6Q9Z5_HUMAN)
  • E2F6 splice variant b (Q6Q9Z6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75461

UniProtKB/Swiss-Prot:

E2F6_HUMAN :
  • Belongs to the E2F/DP family.
Family:
  • Belongs to the E2F/DP family.
genes like me logo Genes that share domains with E2F6: view

Function for E2F6 Gene

Molecular function for E2F6 Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of E2F-dependent transcription. Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3'. Has a preference for the 5'-TTTCCCGC-3' E2F recognition site. E2F6 lacks the transcriptional activation and pocket protein binding domains. Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexpression delays the exit of cells from the S-phase.

Phenotypes From GWAS Catalog for E2F6 Gene

Gene Ontology (GO) - Molecular Function for E2F6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 contributes_to RNA polymerase II regulatory region sequence-specific DNA binding IDA 9501179
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 9501179
GO:0003677 DNA binding TAS,IBA 21873635
GO:0003700 DNA-binding transcription factor activity IBA 21873635
genes like me logo Genes that share ontologies with E2F6: view
genes like me logo Genes that share phenotypes with E2F6: view

Animal Models for E2F6 Gene

MGI Knock Outs for E2F6:

Animal Model Products

CRISPR Products

miRNA for E2F6 Gene

miRTarBase miRNAs that target E2F6
Targeted motifs for E2F6 Gene
HOMER Transcription Factor Regulatory Elements motif E2F6
  • Consensus sequence: GGCGGGAARN Submotif: canonical Cell Type: Hela GEO ID: GSE31477

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for E2F6

Clone Products

  • Addgene plasmids for E2F6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for E2F6 Gene

Localization for E2F6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for E2F6 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 E2F6 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for E2F6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA 17001316
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with E2F6: view

Pathways & Interactions for E2F6 Gene

PathCards logo

SuperPathways for E2F6 Gene

genes like me logo Genes that share pathways with E2F6: view

Pathways by source for E2F6 Gene

1 GeneGo (Thomson Reuters) pathway for E2F6 Gene
  • Cell cycle Cell cycle (generic schema)

Gene Ontology (GO) - Biological Process for E2F6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle IEA --
GO:0000122 negative regulation of transcription by RNA polymerase II IDA,TAS 9501179
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with E2F6: view

No data available for SIGNOR curated interactions for E2F6 Gene

Drugs & Compounds for E2F6 Gene

No Compound Related Data Available

Transcripts for E2F6 Gene

mRNA/cDNA for E2F6 Gene

9 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
12 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 E2F6

Clone Products

  • Addgene plasmids for E2F6

Alternative Splicing Database (ASD) splice patterns (SP) for E2F6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - - -
SP8: -
SP9: - - - - -
SP10: - -
SP11: - -
SP12: - - - - - - -
SP13: - - - - - -
SP14: - -
SP15: -

Relevant External Links for E2F6 Gene

GeneLoc Exon Structure for
E2F6

Expression for E2F6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for E2F6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for E2F6 Gene

This gene is overexpressed in Urine (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for E2F6 Gene



Protein tissue co-expression partners for E2F6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for E2F6

SOURCE GeneReport for Unigene cluster for E2F6 Gene:

Hs.603093

mRNA Expression by UniProt/SwissProt for E2F6 Gene:

O75461-E2F6_HUMAN
Tissue specificity: Expressed in all tissues examined. Highest levels in placenta, skeletal muscle, heart, ovary, kidney, small intestine and spleen.

Evidence on tissue expression from TISSUES for E2F6 Gene

  • Nervous system(4.7)
  • Heart(4.3)
  • Lung(4.3)
  • Blood(4)
genes like me logo Genes that share expression patterns with E2F6: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for E2F6 Gene

Orthologs for E2F6 Gene

This gene was present in the common ancestor of animals.

Orthologs for E2F6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia E2F6 31 30
  • 99.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia E2F6 31 30
  • 91.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia E2F6 31 30
  • 90.6 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia E2f6 30
  • 83.46 (n)
mouse
(Mus musculus)
Mammalia E2f6 17 31 30
  • 83.21 (n)
oppossum
(Monodelphis domestica)
Mammalia E2F6 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia E2F6 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves E2F6 31 30
  • 73.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia E2F6 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia e2f6 30
  • 67.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22662 30
zebrafish
(Danio rerio)
Actinopterygii si:ch211-195d17.2 30
  • 54.88 (n)
E2F6 31
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta E2f 31
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea efl-2 31
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
OneToMany
Species where no ortholog for E2F6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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 E2F6 Gene

ENSEMBL:
Gene Tree for E2F6 (if available)
TreeFam:
Gene Tree for E2F6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for E2F6: view image

Paralogs for E2F6 Gene

Paralogs for E2F6 Gene

(4) SIMAP similar genes for E2F6 Gene using alignment to 11 proteins:

  • E2F6_HUMAN
  • B7Z1I8_HUMAN
  • F8WC40_HUMAN
  • F8WEZ5_HUMAN
  • G5E936_HUMAN
  • Q2Z196_HUMAN
  • Q2Z197_HUMAN
  • Q53YM3_HUMAN
  • Q6Q9Z5_HUMAN
  • Q6Q9Z6_HUMAN
  • Q6Q9Z7_HUMAN

Pseudogenes.org Pseudogenes for E2F6 Gene

genes like me logo Genes that share paralogs with E2F6: view

Variants for E2F6 Gene

Additional dbSNP identifiers (rs#s) for E2F6 Gene

Structural Variations from Database of Genomic Variants (DGV) for E2F6 Gene

Variant ID Type Subtype PubMed ID
esv27377 CNV gain 19812545
nsv978980 CNV duplication 23825009

Variation tolerance for E2F6 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for E2F6 Gene

Human Gene Mutation Database (HGMD)
E2F6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
E2F6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for E2F6 Gene

Disorders for E2F6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for E2F6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinal cancer
  • malignant neoplasm of retina
bilateral retinoblastoma
soft palate cancer
  • malignant tumor of soft palate
ocular cancer
  • eye neoplasm
eye disease
  • abnormality of the eye
- elite association - COSMIC cancer census association via MalaCards
Search E2F6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for E2F6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with E2F6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for E2F6 Gene

Publications for E2F6 Gene

  1. Human E2F6 is alternatively spliced to generate multiple protein isoforms. (PMID: 15081404) Kherrouche Z … Monté D (Biochemical and biophysical research communications 2004) 3 4 23 54
  2. E2F-6: a novel member of the E2F family is an inhibitor of E2F-dependent transcription. (PMID: 9704927) Cartwright P … Helin K (Oncogene 1998) 3 4 23 54
  3. E2F-6, a member of the E2F family that can behave as a transcriptional repressor. (PMID: 9501179) Trimarchi JM … Lees JA (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 54
  4. Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis. (PMID: 19738611) Cunningham JM … Goode EL (British journal of cancer 2009) 3 41 54
  5. PHC3, a component of the hPRC-H complex, associates with E2F6 during G0 and is lost in osteosarcoma tumors. (PMID: 17001316) Deshpande AM … Hansen MF (Oncogene 2007) 3 23 54

Products for E2F6 Gene

Sources for E2F6 Gene