E2F7 E2F transcription factor 7 [Homo sapiens] - Gene

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Summary

Official Symbol: E2F7provided by HGNC
Official Full Name: E2F transcription factor 7provided by HGNC
Primary source: HGNC:23820
See related: Ensembl:ENSG00000165891; HPRD:10929; MIM:612046; Vega:OTTHUMG00000169969
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: FLJ12981
Summary: E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]

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Genomic context

Location :: 12q21.2

Sequence :: Chromosome: 12; NC_000012.11 (77415026..77459360, complement)

See E2F7 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These data indicate that loss of E2F7 during the initiation of differentiation leads to the derepression of Sp1 and subsequent transcription of differentiation-specific genes such as epidermal type I transglutaminase.
Title: Loss of E2F7 expression is an early event in squamous differentiation and causes derepression of the key differentiation activator Sp1.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
selected disruption of E2F1 and E2F7 in keratinocytes is likely to contribute to cutaneous squamous cell carcinomas (CSCC) formation and may prove to be a viable therapeutic target.
Title: E2F7 can regulate proliferation, differentiation, and apoptotic responses in human keratinocytes: implications for cutaneous squamous cell carcinoma formation.
E2F7 and E2F8 act upstream of E2F1, and influence the ability of cells to undergo a DNA-damage response.
Title: DNA-damage response control of E2F7 and E2F8.
down-regulation of E2F7 may contribute to mechanisms underlying platinum resistance in ovarian neoplasms
Title: Clinical relevance of E2F family members in ovarian cancer--an evaluation in a training set of 77 patients.
Plays an essential role in the regulation of cell cycle progression.
Title: E2F7, a novel E2F featuring DP-independent repression of a subset of E2F-regulated genes.
The similarities between E2F-7 and E2F-8 define a new subgroup of the E2F family, and further imply that E2F-7 and E2F-8 may act through overlapping mechanisms in mediating cell cycle control.
Title: E2F-8: an E2F family member with a similar organization of DNA-binding domains to E2F-7.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
E2F transcription factor 7	E2F transcription factor 7	E2F7	HPRD	PubMed
NP_976328.1	NC_004001.2	E2A	BIND	PubMed	E2F-7 interacts with E2A promoter. This interaction was modeled on a demonstrated interaction between E2F-7 from an unspecified species and E2A promoter from an unspecified adenovirus.
BioGRID:126855	BioGRID:126855	E2F7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:126855	BioGRID:114166	RUVBL1	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell cycle	IEA Inferred from Electronic Annotation more info
negative regulation of cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transcription factor E2F7

Names: transcription factor E2F7; E2F-7

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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)

NM_203394.2 → NP_976328.2 transcription factor E2F7

Status: VALIDATED

Source sequence(s)

AC025161, AI380315, AK097677, BC017481, DB159890

Consensus CDS

CCDS9016.1

UniProtKB/Swiss-Prot

Q96AV8

Related

ENSP00000323246, OTTHUMP00000242545, ENST00000322886, OTTHUMT00000406716

Conserved Domains (1) summary

pfam02319
Location:142 – 211
Blast Score: 250

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

77415026..77459360, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

74467815..74512166, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC025161.18 (41638..83264)	None
genomic	AC079030.13 (94544..97236)	None
genomic	CH471054.1	EAW97338.1
		EAW97339.1
		EAW97340.1
mRNA	AI380315.1	None
mRNA	AK023043.1	None
mRNA	AK096316.1	BAG53257.1
mRNA	AK097677.1	BAG53510.1
mRNA	BC016658.1	AAH16658.1
mRNA	BC017481.1	None
mRNA	BC136366.1	AAI36367.1
mRNA	BC136367.1	AAI36368.1
mRNA	DB159890.1	None