ERF

Protein identityUniProt · HPA

UniProt accession

P50548

Gene

ERF

Ensembl

ENSG00000105722

Chromosome

19

Canonical length

548 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nucleoli,Plasma membrane,Cytosol

OverviewNCBI Gene

ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

548 residues, UniProt reviewed canonical sequence.

>P50548|ERF
     1  MKTPADTGFA FPDWAYKPES SPGSRQIQLW HFILELLRKE EYQGVIAWQG DYGEFVIKDP
    61  DEVARLWGVR KCKPQMNYDK LSRALRYYYN KRILHKTKGK RFTYKFNFNK LVLVNYPFID
   121  VGLAGGAVPQ SAPPVPSGGS HFRFPPSTPS EVLSPTEDPR SPPACSSSSS SLFSAVVARR
   181  LGRGSVSDCS DGTSELEEPL GEDPRARPPG PPDLGAFRGP PLARLPHDPG VFRVYPRPRG
   241  GPEPLSPFPV SPLAGPGSLL PPQLSPALPM TPTHLAYTPS PTLSPMYPSG GGGPSGSGGG
   301  SHFSFSPEDM KRYLQAHTQS VYNYHLSPRA FLHYPGLVVP QPQRPDKCPL PPMAPETPPV
   361  PSSASSSSSS SSSPFKFKLQ PPPLGRRQRA AGEKAVAGAD KSGGSAGGLA EGAGALAPPP
   421  PPPQIKVEPI SEGESEEVEV TDISDEDEED GEVFKTPRAP PAPPKPEPGE APGASQCMPL
   481  KLRFKRRWSE DCRLEGGGGP AGGFEDEGED KKVRGEGPGE AGGPLTPRRV SSDLQHATAQ
   541  LSLEHRDS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERF 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)

0.63

Highest tissue expression

47 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERF.

Disease | AllUniProt

Conditions ERF is implicated in, by any mechanism.

• Craniosynostosis 4 (CRS4) MIM:600775
• Chitayat syndrome (CHYTS) MIM:617180

Disease | GeneticClinVar

57 pathogenic / likely-pathogenic of 301 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• TWIST1-related craniosynostosis
• Lambdoidal craniosynostosis
• Inborn genetic diseases
• Chitayat syndrome
• Noonan Syndrome-like developmental disorder

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)

0.26

gnomAD pLI

0.99

gnomAD missense Z

2.25

DepMap mean gene effect

0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• 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
• sequence-specific DNA binding

Cellular components

• chromatin
• cytosol
• nucleoplasm
• nucleus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Ets domain
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• ETS family
• Ets-domain

KeywordsUniProt

• Craniosynostosis
• DNA-binding
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of ERF in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ZRANB1