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

Gene ID: 1876, updated on 13-Mar-2020

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
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

Genomic context

See E2F6 in Genome Data Viewer
Location:
2p25.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (11444375..11466177, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11584501..11606303, 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 growth regulating estrogen receptor binding 1 Neighboring gene RNA, 5S ribosomal pseudogene 84 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111545

Gene Ontology Provided by GOA

Component Evidence Code Pubs
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001278275.1NP_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, DA609616
    Consensus CDS
    CCDS62859.1
    UniProtKB/Swiss-Prot
    O75461
    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/Swiss-Prot
    O75461
    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_001278277.1NP_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, DA609616
    Consensus CDS
    CCDS62858.1
    UniProtKB/Swiss-Prot
    O75461
    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_001278278.1NP_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, DA609616
    Consensus CDS
    CCDS62858.1
    UniProtKB/Swiss-Prot
    O75461
    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
    O75461
    UniProtKB/TrEMBL
    A0A0S2Z3K8
    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
    Q53YM3, 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    11444375..11466177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003548.1XP_016859037.1  transcription factor E2F6 isoform X2

  2. XM_017003549.2XP_016859038.1  transcription factor E2F6 isoform X3

  3. XM_017003547.1XP_016859036.1  transcription factor E2F6 isoform X1

RNA

  1. XR_001738660.1 RNA Sequence

    Related
    ENST00000428221.5

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.
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