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

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: mouse all
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Genomic context

Location:: 2p25.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (11444375..11466161, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (11477385..11499173, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (11584501..11606287, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65047 (e-PCR)
- UniSTS:91231

RH65166 (e-PCR)
- UniSTS:89972

D2S1400 (e-PCR), detects polymorphism
- UniSTS:72833

SHGC-62972 (e-PCR)
- UniSTS:95371

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 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
located_in 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)

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
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
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
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
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
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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

11444375..11466161 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443601.1 → XP_047299557.1 transcription factor E2F6 isoform X1
XM_047443602.1 → XP_047299558.1 transcription factor E2F6 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

11477385..11499173 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340920.1 → XP_054196895.1 transcription factor E2F6 isoform X1
XM_054340922.1 → XP_054196897.1 transcription factor E2F6 isoform X2
XM_054340921.1 → XP_054196896.1 transcription factor E2F6 isoform X5
XM_054340918.1 → XP_054196893.1 transcription factor E2F6 isoform X3
XM_054340919.1 → XP_054196894.1 transcription factor E2F6 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_198257.1: Suppressed sequence

Description

NM_198257.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_198258.1: Suppressed sequence

Description

NM_198258.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_198325.1: Suppressed sequence

Description

NM_198325.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.