E2F8 E2F transcription factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: E2F8provided by HGNC
Official Full Name: E2F transcription factor 8provided by HGNC
Primary source: HGNC:HGNC:24727
See related: Ensembl:ENSG00000129173 MIM:612047; AllianceGenome:HGNC:24727
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: E2F-8
Summary: This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
Expression: Broad expression in bone marrow (RPKM 4.6), lymph node (RPKM 3.5) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (19224063..19241655, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (19344150..19361742, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (19245610..19263202, complement)

Chromosome 11 - NC_000011.10 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
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?

TJP1 suppresses trophoblast cell invasion by expressing E2F8 in the human placenta.
Title: TJP1 suppresses trophoblast cell invasion by expressing E2F8 in the human placenta.
ENO1 promotes trophoblast invasion regulated by E2F8 in recurrent miscarriage.
Title: ENO1 promotes trophoblast invasion regulated by E2F8 in recurrent miscarriage.
E2F8 exerts cancer-promoting effects by transcriptionally activating RRM2 and E2F8 knockdown synergizes with WEE1 inhibition in suppressing lung adenocarcinoma.
Title: E2F8 exerts cancer-promoting effects by transcriptionally activating RRM2 and E2F8 knockdown synergizes with WEE1 inhibition in suppressing lung adenocarcinoma.
Cyclosporin A inhibits prostate cancer growth through suppression of E2F8 transcription factor in a MELK-dependent manner.
Title: Cyclosporin A inhibits prostate cancer growth through suppression of E2F8 transcription factor in a MELK‑dependent manner.
E2F8 knockdown suppresses cell proliferation and induces cell cycle arrest via Wnt/beta-Catenin pathway in ovarian cancer.
Title: E2F8 knockdown suppresses cell proliferation and induces cell cycle arrest via Wnt/β-Catenin pathway in ovarian cancer.
Opposing functions of circadian protein DBP and atypical E2F family E2F8 in anti-tumor Th9 cell differentiation.
Title: Opposing functions of circadian protein DBP and atypical E2F family E2F8 in anti-tumor Th9 cell differentiation.
Cell cycle oscillators underlying orderly proteolysis of E2F8.
Title: Cell cycle oscillators underlying orderly proteolysis of E2F8.
E2F transcription factor 8 promotes proliferation and radioresistance in glioblastoma.
Title: E2F transcription factor 8 promotes proliferation and radioresistance in glioblastoma.
Carcinogenesis effects of E2F transcription factor 8 (E2F8) in hepatocellular carcinoma outcomes: an integrated bioinformatic report.
Title: Carcinogenesis effects of E2F transcription factor 8 (E2F8) in hepatocellular carcinoma outcomes: an integrated bioinformatic report.
E2F8 Induces Cell Proliferation and Invasion through the Epithelial-Mesenchymal Transition and Notch Signaling Pathways in Ovarian Cancer.
Title: E2F8 Induces Cell Proliferation and Invasion through the Epithelial-Mesenchymal Transition and Notch Signaling Pathways in Ovarian Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

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

RH74495 (e-PCR)
- UniSTS:84518

G35282 (e-PCR)
- UniSTS:7909

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
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
enables DNA-binding transcription repressor activity	ISS Inferred from Sequence or Structural Similarity more info
enables 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
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle comprising mitosis without cytokinesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in chorionic trophoblast cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in hepatocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cytokinesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in placenta development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA endoreduplication	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in trophoblast giant cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transcription factor E2F8

Names: E2F family member 8

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_001256371.2 → NP_001243300.1 transcription factor E2F8

See identical proteins and their annotated locations for NP_001243300.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC009652, BM972658, DA758300

Consensus CDS

CCDS7849.1

UniProtKB/Swiss-Prot

A0AVK6, A8K9H3, Q2VPJ3, Q3C1U6, Q5BKY4, Q8N340, Q9H5M0

Related

ENSP00000481103.1, ENST00000620009.4

Conserved Domains (2) summary

pfam02319
Location:114 → 182

E2F_TDP; E2F/DP family winged-helix DNA-binding domain

cl26464
Location:464 → 700

Atrophin-1; Atrophin-1 family
NM_001256372.1 → NP_001243301.1 transcription factor E2F8

See identical proteins and their annotated locations for NP_001243301.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC009652, AK292688, BM972658, BX504614

Consensus CDS

CCDS7849.1

UniProtKB/Swiss-Prot

A0AVK6, A8K9H3, Q2VPJ3, Q3C1U6, Q5BKY4, Q8N340, Q9H5M0

Related

ENSP00000434199.1, ENST00000527884.5

Conserved Domains (2) summary

pfam02319
Location:114 → 182

E2F_TDP; E2F/DP family winged-helix DNA-binding domain

cl26464
Location:464 → 700

Atrophin-1; Atrophin-1 family
NM_024680.4 → NP_078956.2 transcription factor E2F8

See identical proteins and their annotated locations for NP_078956.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK026964, AK055206, BC028244, BM972658, BU164108, BX504614, CB959621

Consensus CDS

CCDS7849.1

UniProtKB/Swiss-Prot

A0AVK6, A8K9H3, Q2VPJ3, Q3C1U6, Q5BKY4, Q8N340, Q9H5M0

Related

ENSP00000250024.4, ENST00000250024.9

Conserved Domains (2) summary

pfam02319
Location:114 → 182

E2F_TDP; E2F/DP family winged-helix DNA-binding domain

cl26464
Location:464 → 700

Atrophin-1; Atrophin-1 family

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

19224063..19241655 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427596.1 → XP_047283552.1 transcription factor E2F8 isoform X1
XM_047427597.1 → XP_047283553.1 transcription factor E2F8 isoform X1
XM_011520367.2 → XP_011518669.1 transcription factor E2F8 isoform X1

Conserved Domains (1) summary

pfam02319
Location:158 → 242

E2F_TDP; E2F/DP family winged-helix DNA-binding domain
XM_047427598.1 → XP_047283554.1 transcription factor E2F8 isoform X2