E2F7 E2F transcription factor 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: E2F7provided by HGNC
Official Full Name: E2F transcription factor 7provided by HGNC
Primary source: HGNC:HGNC:23820
See related: Ensembl:ENSG00000165891 MIM:612046; AllianceGenome:HGNC:23820
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
Summary: Enables DNA-binding transcription repressor activity; cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; regulation of transcription by RNA polymerase II; and sprouting angiogenesis. Located in nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.5) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (77021251..77065569, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (76999082..77043421, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (77415031..77459349, complement)

Chromosome 12 - NC_000012.12 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
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 novel circFKBP8/miR-432-5p/E2F7 cascade functions as a regulatory network in breast cancer.
Title: The novel circFKBP8/miR-432-5p/E2F7 cascade functions as a regulatory network in breast cancer.
Transcription Factor E2F7 Hampers the Killing Effect of NK Cells against Colorectal Cancer Cells via Activating RAD18 Transcription.
Title: Transcription Factor E2F7 Hampers the Killing Effect of NK Cells against Colorectal Cancer Cells via Activating RAD18 Transcription.
p53/E2F7 axis promotes temozolomide chemoresistance in glioblastoma multiforme.
Title: p53/E2F7 axis promotes temozolomide chemoresistance in glioblastoma multiforme.
E2F7 serves as a potential prognostic biomarker for lung adenocarcinoma.
Title: E2F7 serves as a potential prognostic biomarker for lung adenocarcinoma.
CISD2 transcriptional activated by transcription factor E2F7 promotes the malignant progression of cervical cancer.
Title: CISD2 transcriptional activated by transcription factor E2F7 promotes the malignant progression of cervical cancer.
Circ_0010235 confers cisplatin resistance in lung cancer by upregulating E2F7 through absorbing miR-379-5p.
Title: Circ_0010235 confers cisplatin resistance in lung cancer by upregulating E2F7 through absorbing miR-379-5p.
E2F7 drives autotaxin/Enpp2 transcription via chromosome looping: Repression by p53 in murine but not in human carcinomas.
Title: E2F7 drives autotaxin/Enpp2 transcription via chromosome looping: Repression by p53 in murine but not in human carcinomas.
VIRMA promotes nasopharyngeal carcinoma, tumorigenesis, and metastasis by upregulation of E2F7 in an m6A-dependent manner.
Title: VIRMA promotes nasopharyngeal carcinoma, tumorigenesis, and metastasis by upregulation of E2F7 in an m6A-dependent manner.
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.
Circular RNA hsa_circ_0000519 contributes to angiogenesis and tumor progression in hepatocellular carcinoma through the miR-1296/E2F7 axis.
Title: Circular RNA hsa_circ_0000519 contributes to angiogenesis and tumor progression in hepatocellular carcinoma through the miR-1296/E2F7 axis.

Submit: New GeneRIF Correction See all GeneRIFs (55)

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
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. 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

RH119742 (e-PCR)
- UniSTS:133218

SHGC-148227 (e-PCR)
- UniSTS:176269

E2F7__7198 (e-PCR)
- UniSTS:468395

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	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
involved_in chorionic trophoblast cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in hepatocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation 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 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 nuclear speck	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 E2F7

Names: E2F-7

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_203394.3 → NP_976328.2 transcription factor E2F7

See identical proteins and their annotated locations for NP_976328.2

Status: VALIDATED

Source sequence(s)

AC025161, AI380315, AK097677, BC017481, DB159890

Consensus CDS

CCDS9016.1

UniProtKB/Swiss-Prot

A6NC74, B2RMR7, B3KTZ5, B3KUP8, B5MED9, Q96AV8

Related

ENSP00000323246.7, ENST00000322886.12

Conserved Domains (1) summary

pfam02319
Location:144 → 211

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

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

77021251..77065569 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537966.3 → XP_011536268.1 transcription factor E2F7 isoform X1

Conserved Domains (1) summary

pfam02319
Location:144 → 211

E2F_TDP; E2F/DP family winged-helix DNA-binding domain
XM_011537969.3 → XP_011536271.1 transcription factor E2F7 isoform X2

Conserved Domains (1) summary

pfam02319
Location:43 → 110

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