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

Gene ID: 144455, updated on 30-Apr-2024

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 factor activity; cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in several processes, including DNA damage response, signal transduction by p53 class mediator; regulation of transcription, DNA-templated; and sprouting angiogenesis. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.5) and 16 other tissues See more
Orthologs
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Genomic context

Location:
12q21.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (77021251..77065569, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (76999082..77043421, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (77415031..77459349, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4675 Neighboring gene cysteine and glycine rich protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:77313616-77314124 Neighboring gene Sharpr-MPRA regulatory region 9474 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:77329846-77331045 Neighboring gene NANOG hESC enhancer GRCh37_chr12:77358407-77359020 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:77425832-77427031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4676 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:77459297-77460003 Neighboring gene Sharpr-MPRA regulatory region 14502 Neighboring gene uncharacterized LOC105369853 Neighboring gene small nucleolar RNA U13

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ12981

Gene Ontology Provided by GOA

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
 
part_of 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

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)

  1. NM_203394.3NP_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:144211
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    77021251..77065569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam02319
    Location:144211
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain
  2. XM_011537969.3XP_011536271.1  transcription factor E2F7 isoform X2

    Conserved Domains (1) summary
    pfam02319
    Location:43110
    E2F_TDP; E2F/DP family winged-helix DNA-binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    76999082..77043421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371191.1XP_054227166.1  transcription factor E2F7 isoform X1

  2. XM_054371192.1XP_054227167.1  transcription factor E2F7 isoform X2