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E2F6 E2F transcription factor 6 [ Homo sapiens (human) ]

Gene ID: 1876, updated on 3-Apr-2024

Summary

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Official Symbol
E2F6provided by HGNC
Official Full Name
E2F transcription factor 6provided by HGNC
Primary source
HGNC:HGNC:3120
See related
Ensembl:ENSG00000169016 MIM:602944; AllianceGenome:HGNC:3120
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-6
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 4.1), endometrium (RPKM 3.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2p25.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11444375..11466161, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11477385..11499173, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11584501..11606287, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 570 Neighboring gene uncharacterized LOC105373429 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:11565759-11566958 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11589453-11589714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:11605481-11606038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:11606039-11606595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11624569-11625070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11638323-11639108 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:11639109-11639894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15320 Neighboring gene growth regulating estrogen receptor binding 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:11660661-11661162 Neighboring gene RNA, 5S ribosomal pseudogene 84 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11678265-11678774 Neighboring gene microRNA 4429

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A positive feedback loop of CENPU/E2F6/E2F1 facilitates proliferation and metastasis via ubiquitination of E2F6 in hepatocellular carcinoma. Liu Y, et al. Int J Biol Sci, 2022. PMID 35844791, Free PMC Article
  2. E2F6 functions as a competing endogenous RNA, and transcriptional repressor, to promote ovarian cancer stemness. Cheng FHC, et al. Cancer Sci, 2019 Mar. PMID 30582655, Free PMC Article
  3. Human parvovirus B19 causes cell cycle arrest of human erythroid progenitors via deregulation of the E2F family of transcription factors. Wan Z, et al. J Clin Invest, 2010 Oct. PMID 20890043, Free PMC Article
  4. Human papillomavirus type 16 E7 oncoprotein associates with E2F6. McLaughlin-Drubin ME, et al. J Virol, 2008 Sep. PMID 18579589, Free PMC Article
  5. Comparative analysis of E2F family member oncogenic activity. Chen C, et al. PLoS One, 2007 Sep 19. PMID 17878947, Free PMC Article

See all (100) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding.
    Title: The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding.
  2. A hsa_circ_001726 axis regulated by E2F6 contributes to metastasis of hepatocellular carcinoma.
    Title: A hsa_circ_001726 axis regulated by E2F6 contributes to metastasis of hepatocellular carcinoma.
  3. lncRNA ENST00000585827 Contributes to the Progression of Endometrial Carcinoma via Regulating miR-424/E2F6/E2F7 Axis.
    Title: lncRNA ENST00000585827 Contributes to the Progression of Endometrial Carcinoma via Regulating miR-424/E2F6/E2F7 Axis.
  4. The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.
    Title: The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.
  5. A positive feedback loop of CENPU/E2F6/E2F1 facilitates proliferation and metastasis via ubiquitination of E2F6 in hepatocellular carcinoma.
    Title: A positive feedback loop of CENPU/E2F6/E2F1 facilitates proliferation and metastasis via ubiquitination of E2F6 in hepatocellular carcinoma.
  6. Long Noncoding RNA LAMTOR5-AS1 Interference Affects MicroRNA-506-3p/E2F6-Mediated Behavior of Non-Small Cell Lung Cancer Cells.
    Title: Long Noncoding RNA LAMTOR5-AS1 Interference Affects MicroRNA-506-3p/E2F6-Mediated Behavior of Non-Small Cell Lung Cancer Cells.
  7. Deubiquitination of the repressor E2F6 by USP22 facilitates AKT activation and tumor growth in hepatocellular carcinoma.
    Title: Deubiquitination of the repressor E2F6 by USP22 facilitates AKT activation and tumor growth in hepatocellular carcinoma.
  8. Long noncoding RNA SLC9A3AS1 increases E2F6 expression by sponging microRNA4865p and thus facilitates the oncogenesis of nasopharyngeal carcinoma.
    Title: Long noncoding RNA SLC9A3‑AS1 increases E2F6 expression by sponging microRNA‑486‑5p and thus facilitates the oncogenesis of nasopharyngeal carcinoma.
  9. Circular RNA ZNF609 functions as a competing endogenous RNA in regulating E2F transcription factor 6 through competitively binding to microRNA-197-3p to promote the progression of cervical cancer progression.
    Title: Circular RNA ZNF609 functions as a competing endogenous RNA in regulating E2F transcription factor 6 through competitively binding to microRNA-197-3p to promote the progression of cervical cancer progression.
  10. E2F6-Mediated Downregulation of MIR22HG Facilitates the Progression of Laryngocarcinoma by Targeting the miR-5000-3p/FBXW7 Axis.
    Title: E2F6-Mediated Downregulation of MIR22HG Facilitates the Progression of Laryngocarcinoma by Targeting the miR-5000-3p/FBXW7 Axis.
Submit: New GeneRIF Correction See all GeneRIFs (34)

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
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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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

Homology

Clone Names

  • MGC111545

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
  
contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to RNA polymerase II transcription regulatory region sequence-specific DNA 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
  
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of MLL1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of RNA polymerase II transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RNA polymerase II transcription regulator complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transcription factor E2F6

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_001278275.2 → NP_001265204.1  transcription factor E2F6 isoform 2

    See identical proteins and their annotated locations for NP_001265204.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) contains an alternate exon in the 5' region and initiates translation at an alternate start site, compared to variant a. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC099344, AU142999, AY551347, BC008348
    Consensus CDS
    CCDS62859.1
    UniProtKB/TrEMBL
    Q53FX2
    Related
    ENSP00000302159.4, ENST00000307236.8
    Conserved Domains (2) summary
    cd14660
    Location:107 → 207
    E2F_DD; Dimerization domain of E2F transcription factors
    pfam02319
    Location:33 → 96
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain

  2. NM_001278276.2 → NP_001265205.1  transcription factor E2F6 isoform 3

    See identical proteins and their annotated locations for NP_001265205.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) contains an alternate exon and initiates translation at a downstream in-frame start codon, compared to variant a. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants c, d, and e encode the same isoform (3).
    Source sequence(s)
    AC099344, AU142999, BC008348, BU076470
    Consensus CDS
    CCDS62858.1
    UniProtKB/TrEMBL
    Q53YM3
    Conserved Domains (2) summary
    cd14660
    Location:64 → 164
    E2F_DD; Dimerization domain of E2F transcription factors
    pfam02319
    Location:1 → 53
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain

  3. NM_001278277.2 → NP_001265206.1  transcription factor E2F6 isoform 3

    See identical proteins and their annotated locations for NP_001265206.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) contains two alternate exons and initiates translation at a downstream in-frame start codon, compared to variant a. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants c, d, and e encode the same isoform (3).
    Source sequence(s)
    AC099344, AK096197, AU142999, BC008348
    Consensus CDS
    CCDS62858.1
    UniProtKB/TrEMBL
    Q53YM3
    Related
    ENSP00000446315.1, ENST00000542100.5
    Conserved Domains (2) summary
    cd14660
    Location:64 → 164
    E2F_DD; Dimerization domain of E2F transcription factors
    pfam02319
    Location:1 → 53
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain

  4. NM_001278278.2 → NP_001265207.1  transcription factor E2F6 isoform 3

    See identical proteins and their annotated locations for NP_001265207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) lacks an alternate exon in the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant a. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants c, d, and e encode the same isoform (3).
    Source sequence(s)
    AC099344, AU142999, BC008348, BI772069
    Consensus CDS
    CCDS62858.1
    UniProtKB/TrEMBL
    Q53YM3
    Related
    ENSP00000438864.1, ENST00000546212.2
    Conserved Domains (2) summary
    cd14660
    Location:64 → 164
    E2F_DD; Dimerization domain of E2F transcription factors
    pfam02319
    Location:1 → 53
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain

  5. NM_198256.4 → NP_937987.2  transcription factor E2F6 isoform 1

    See identical proteins and their annotated locations for NP_937987.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) encodes the longest isoform (1).
    Source sequence(s)
    AC099344, AU142999, BC008348
    Consensus CDS
    CCDS1680.2
    UniProtKB/Swiss-Prot
    A8K2Z8, G5E936, O60544, O75461, Q53QY9, Q6Q9Z6, Q7Z2H6
    UniProtKB/TrEMBL
    A0A0S2Z3K8, Q53F82, Q6Q9Z7
    Related
    ENSP00000370936.3, ENST00000381525.8
    Conserved Domains (2) summary
    cd14660
    Location:139 → 239
    E2F_DD; Dimerization domain of E2F transcription factors
    pfam02319
    Location:65 → 128
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain

  6. NM_212540.3 → NP_997705.1  transcription factor E2F6 isoform 4

    See identical proteins and their annotated locations for NP_997705.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) uses an alternate splice site at an internal exon and initiates translation at a downstream in-frame start codon, compared to variant a. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC099344, AK096197, BC062610, DA609616
    UniProtKB/TrEMBL
    Q6Q9Z5
    Conserved Domains (1) summary
    cd14660
    Location:1 → 87
    E2F_DD; Dimerization domain of E2F transcription factors

RNA

  1. NR_103490.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g) lacks two alternate internal exons, compared to variant a. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC099344, AK293504, BC008348, DA609616

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    11444375..11466161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443601.1 → XP_047299557.1  transcription factor E2F6 isoform X1

  2. XM_047443602.1 → XP_047299558.1  transcription factor E2F6 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    11477385..11499173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340920.1 → XP_054196895.1  transcription factor E2F6 isoform X1

  2. XM_054340922.1 → XP_054196897.1  transcription factor E2F6 isoform X2

  3. XM_054340921.1 → XP_054196896.1  transcription factor E2F6 isoform X5

  4. XM_054340918.1 → XP_054196893.1  transcription factor E2F6 isoform X3

  5. XM_054340919.1 → XP_054196894.1  transcription factor E2F6 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198257.1: Suppressed sequence

    Description
    NM_198257.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_198258.1: Suppressed sequence

    Description
    NM_198258.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  3. NM_198325.1: Suppressed sequence

    Description
    NM_198325.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75461.1 GenPept UniProtKB/Swiss-Prot:O75461

Gene LinkOut

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