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

    Gene ID: 1876, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See E2F6 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC111545

    Gene Ontology Provided by GOA

    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001278275.2NP_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:107207
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:3396
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    2. NM_001278276.2NP_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:64164
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:153
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    3. NM_001278277.2NP_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:64164
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:153
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    4. NM_001278278.2NP_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:64164
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:153
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    5. NM_198256.4NP_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:139239
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:65128
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    6. NM_212540.3NP_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:187
      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_047443601.1XP_047299557.1  transcription factor E2F6 isoform X1

      UniProtKB/TrEMBL
      Q53FX2
    2. XM_047443602.1XP_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_054340920.1XP_054196895.1  transcription factor E2F6 isoform X1

      UniProtKB/TrEMBL
      Q53FX2
    2. XM_054340922.1XP_054196897.1  transcription factor E2F6 isoform X2

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

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

    5. XM_054340919.1XP_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.