Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1876
Gene name Gene Name - the full gene name approved by the HGNC.
E2F transcription factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
E2F6
Synonyms (NCBI Gene) Gene synonyms aliases
E2F-6
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 me
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004726 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 19843643
MIRT004726 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 19843643
MIRT004726 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 19843643
MIRT004726 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 19843643
MIRT005044 hsa-let-7b-5p Microarray 17699775
Transcription factors
Transcription factor Regulation Reference
BRCA1 Repression 17096023
E2F1 Activation 16107498
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9501179
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 9501179
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 9501179
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602944 3120 ENSG00000169016
Protein
UniProt ID O75461
Protein name Transcription factor E2F6 (E2F-6)
Protein function Inhibitor of E2F-dependent transcription (PubMed:9501179, PubMed:9689056, PubMed:9704927). Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' (PubMed:9501179). Has a preference for the 5'-TTTCCCGC-3' E2F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02319 E2F_TDP 64 128 E2F/DP family winged-helix DNA-binding domain Domain
PF16421 E2F_CC-MB 143 237 E2F transcription factor CC-MB domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined. Highest levels in placenta, skeletal muscle, heart, ovary, kidney, small intestine and spleen. {ECO:0000269|PubMed:9689056}.
Sequence
MSQQRPARKLPSLLLDPTEETVRRRCRDPINVEGLLPSKIRINLEDNVQYVSMRKALKVK
RPRFDVSLVYLTRKFMDLVRSAPGGILDLNKVATKLGVRKRRVYDITNVLDGIDLVEKKS
KNHIRWIG
SDLSNFGAVPQQKKLQEELSDLSAMEDALDELIKDCAQQLFELTDDKENERL
AYVTYQDIHSIQAFHEQIVIAVKAPAETRLDVPAPREDSITVHIRSTNGPIDVYLCE
VEQ
GQTSNKRSEGVGTSSSESTHPEGPEEEENPQQSEELLEVSN
Sequence length 281
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Polycomb repressive complex   G1/S-Specific Transcription
Transcriptional Regulation by E2F6
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Astrocytoma N/A N/A GWAS
Glioblastoma Glioblastoma Taken together, these data showed that E2F6 is a vulnerability related to TMZ?resistant GBM and that inhibition of E2F6 could be a promising therapeutic strategy for TMZ?resistant GBM. 31508283 GWAS, CBGDA
Heart Failure Heart failure N/A N/A GWAS
Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24564251
Brain Neoplasms Stimulate 33381564
Carcinogenesis Associate 19430707
Carcinoma Associate 31467233
Carcinoma Hepatocellular Associate 27818995, 35844791
Carcinoma Non Small Cell Lung Stimulate 24564251
Carcinoma Non Small Cell Lung Associate 34588094
Carcinoma Renal Cell Associate 30338798
Carcinoma Squamous Cell Associate 24564251
Glioblastoma Stimulate 38071912