E2F6
Transcription factor E2F6
Also known as: E2F-6, E2F6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75461
- Gene
- E2F6
- Ensembl
- ENSG00000169016
- Chromosome
- 2
- Canonical length
- 281 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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 members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Canonical amino-acid sequenceUniProt
281 residues, UniProt reviewed canonical sequence.
>O75461|E2F6
1 MSQQRPARKL PSLLLDPTEE TVRRRCRDPI NVEGLLPSKI RINLEDNVQY VSMRKALKVK
61 RPRFDVSLVY LTRKFMDLVR SAPGGILDLN KVATKLGVRK RRVYDITNVL DGIDLVEKKS
121 KNHIRWIGSD LSNFGAVPQQ KKLQEELSDL SAMEDALDEL IKDCAQQLFE LTDDKENERL
181 AYVTYQDIHS IQAFHEQIVI AVKAPAETRL DVPAPREDSI TVHIRSTNGP IDVYLCEVEQ
241 GQTSNKRSEG VGTSSSESTH PEGPEEEENP QQSEELLEVS NLocalizationUniProt · AlphaFold · HPA
Whether an antibody against E2F6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 14 nTPM
- tongue: 11 nTPM
- choroid plexus: 7.2 nTPM
- heart muscle: 7.2 nTPM
- adipose tissue: 5.3 nTPM
- midbrain: 5.3 nTPM
Single-cell type
- differentiating spermatogonia: 41 nCPM
- myonuclei: 37 nCPM
- undifferentiated spermatogonia: 29 nCPM
- endometrial secretory cells: 27 nCPM
- adipocytes: 27 nCPM
- adrenal cortex cells: 25 nCPM
Immune cell
- basophil: 7.8 nTPM
- MAIT T-cell: 0.4 nTPM
- classical monocyte: 0.2 nTPM
- memory CD8 T-cell: 0.2 nTPM
- myeloid DC: 0.2 nTPM
- total PBMC: 0.2 nTPM
Brain region
- hypothalamus: 6 nTPM
- midbrain: 5 nTPM
- medulla oblongata: 4.7 nTPM
- white matter: 4.7 nTPM
- basal ganglia: 4.6 nTPM
- spinal cord: 4.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about E2F6.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 43 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.68
- gnomAD pLI
- 0.1
- gnomAD missense Z
- 0.92
- DepMap mean gene effect
- 0.14
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- G1/S transition of mitotic cell cycle
- negative regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of E2F6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads E2F6 as an antibody target. Whether an autoantibody or antibody against E2F6 could matter depends on whether native E2F6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
E2F6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label E2F6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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