EFNB1
Ephrin-B1
Also known as: CFNS, EFNB1_HUMAN, Elk-L, EPLG2, LERK2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P98172
- Gene
- EFNB1
- Ensembl
- ENSG00000090776
- Chromosome
- X
- Canonical length
- 346 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
346 residues, UniProt reviewed canonical sequence.
>P98172|EFNB1
1 MARPGQRWLG KWLVAMVVWA LCRLATPLAK NLEPVSWSSL NPKFLSGKGL VIYPKIGDKL
61 DIICPRAEAG RPYEYYKLYL VRPEQAAACS TVLDPNVLVT CNRPEQEIRF TIKFQEFSPN
121 YMGLEFKKHH DYYITSTSNG SLEGLENREG GVCRTRTMKI IMKVGQDPNA VTPEQLTTSR
181 PSKEADNTVK MATQAPGSRG SLGDSDGKHE TVNQEEKSGP GASGGSSGDP DGFFNSKVAL
241 FAAVGAGCVI FLLIIIFLTV LLLKLRKRHR KHTQQRAAAL SLSTLASPKG GSGTAGTEPS
301 DIIIPLRTTE NNYCPHYEKV SGDYGHPVYI VQEMPPQSPA NIYYKVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EFNB1 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- skin: 51 nTPM
- adipose tissue: 44 nTPM
- kidney: 42 nTPM
- breast: 41 nTPM
- lung: 39 nTPM
- heart muscle: 32 nTPM
Single-cell type
- extravillous trophoblasts: 120 nCPM
- basal keratinocytes: 112 nCPM
- suprabasal keratinocytes: 89 nCPM
- podocytes: 77 nCPM
- esophageal basal cells: 75 nCPM
- urothelial cells: 67 nCPM
Immune cell
- myeloid DC: 3.5 nTPM
- intermediate monocyte: 1.7 nTPM
- non-classical monocyte: 1.1 nTPM
- NK-cell: 0.7 nTPM
- classical monocyte: 0.6 nTPM
- plasmacytoid DC: 0.5 nTPM
Brain region
- cerebral cortex: 8.5 nTPM
- thalamus: 8.2 nTPM
- spinal cord: 7.9 nTPM
- basal ganglia: 7.7 nTPM
- medulla oblongata: 7.6 nTPM
- hypothalamus: 7.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EFNB1.
Disease | AllUniProt
Conditions EFNB1 is implicated in, by any mechanism.
- Craniofrontonasal syndrome (CFNS) MIM:304110
Disease | GeneticClinVar
70 pathogenic / likely-pathogenic of 222 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Craniofrontonasal syndrome
- Inborn genetic diseases
- EFNB1-related disorder
- Nonpapillary renal cell carcinoma
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)
- 0.35
- gnomAD pLI
- 0.93
- gnomAD missense Z
- 1.59
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- cell adhesion
- cell-cell signaling
- embryonic pattern specification
- ephrin receptor signaling pathway
- neural crest cell migration
- positive regulation of T cell proliferation
- T cell costimulation
- T cell proliferation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EFNB1 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 EFNB1 as an antibody target. Whether an autoantibody or antibody against EFNB1 could matter depends on whether native EFNB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EFNB1 is annotated at the cell surface, where native EFNB1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label EFNB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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