EBF3
Transcription factor COE3
Also known as: COE3, COE3_HUMAN, DKFZp667B0210
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H4W6
- Gene
- EBF3
- Ensembl
- ENSG00000108001
- Chromosome
- 10
- Canonical length
- 596 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
Canonical amino-acid sequenceUniProt
596 residues, UniProt reviewed canonical sequence.
>Q9H4W6|EBF3
1 MFGIQENIPR GGTTMKEEPL GSGMNPVRSW MHTAGVVDAN TAAQSGVGLA RAHFEKQPPS
61 NLRKSNFFHF VLALYDRQGQ PVEIERTAFV DFVEKEKEPN NEKTNNGIHY KLQLLYSNGV
121 RTEQDLYVRL IDSMTKQAIV YEGQDKNPEM CRVLLTHEIM CSRCCDKKSC GNRNETPSDP
181 VIIDRFFLKF FLKCNQNCLK NAGNPRDMRR FQVVVSTTVN VDGHVLAVSD NMFVHNNSKH
241 GRRARRLDPS EGTAPSYLEN ATPCIKAISP SEGWTTGGAT VIIIGDNFFD GLQVVFGTML
301 VWSELITPHA IRVQTPPRHI PGVVEVTLSY KSKQFCKGAP GRFVYTALNE PTIDYGFQRL
361 QKVIPRHPGD PERLPKEVLL KRAADLVEAL YGMPHNNQEI ILKRAADIAE ALYSVPRNHN
421 QIPTLGNNPA HTGMMGVNSF SSQLAVNVSE TSQANDQVGY SRNTSSVSPR GYVPSSTPQQ
481 SNYNTVSTSM NGYGSGAMAS LGVPGSPGFL NGSSANSPYG IVPSSPTMAA SSVTLPSNCS
541 STHGIFSFSP ANVISAVKQK SAFAPVVRPQ ASPPPSCTSA NGNGLQAMSG LVVPPMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EBF3 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)
- 0.48
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- adipose tissue: 16 nTPM
- breast: 9.1 nTPM
- skeletal muscle: 7.4 nTPM
- tongue: 7.2 nTPM
- heart muscle: 6.6 nTPM
- lymph node: 6.4 nTPM
Single-cell type
- fibro-adipogenic progenitors: 329 nCPM
- myosatellite cells: 175 nCPM
- retinal ganglion cells: 124 nCPM
- adipocytes: 116 nCPM
- vascular endothelial cells: 79 nCPM
- fibroblasts: 51 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- spinal cord: 35 nTPM
- midbrain: 20 nTPM
- medulla oblongata: 14 nTPM
- pons: 8.6 nTPM
- thalamus: 7.2 nTPM
- hypothalamus: 6.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EBF3.
Disease | AllUniProt
Conditions EBF3 is implicated in, by any mechanism.
- Hypotonia, ataxia, and delayed development syndrome (HADDS) MIM:617330
Disease | GeneticClinVar
114 pathogenic / likely-pathogenic of 350 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypotonia, ataxia, and delayed development syndrome
- Inborn genetic diseases
- Intellectual disability
- See cases
- EBF3-related 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)
- 0.15
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.61
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- IPT domain
- Transcription factor COE
- Immunoglobulin-like fold
- Immunoglobulin E-set
- Transcription factor COE, conserved site
- Transcription factor COE, DNA-binding domain
- Transcription factor COE, helix-loop-helix domain
- Transcription factor COE, IPT domain
- Transcription factor COE, DNA-binding domain superfamily
- IPT/TIG domain
- Transcription factor COE1 DNA-binding domain
- Transcription factor COE1 helix-loop-helix domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EBF3 as an antibody target. Whether an autoantibody or antibody against EBF3 could matter depends on whether native EBF3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EBF3 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 EBF3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...