Seroatlas · Human Serome Atlas

EDNRB

Endothelin receptor type B

Also known as: EDNRB_HUMAN, ETB, HSCR, HSCR2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P24530
Gene
EDNRB
Ensembl
ENSG00000136160
Chromosome
13
Canonical length
442 aa
Protein class
Disease related genes, FDA approved drug targets, G-protein coupled receptors, Human disease related genes, Predicted membrane proteins
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

442 residues, UniProt reviewed canonical sequence.

>P24530|EDNRB
     1  MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT KTLWPKGSNA
    61  SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF KYINTVVSCL VFVLGIIGNS
   121  TLLRIIYKNK CMRNGPNILI ASLALGDLLH IVIDIPINVY KLLAEDWPFG AEMCKLVPFI
   181  QKASVGITVL SLCALSIDRY RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF
   241  DIITMDYKGS YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM
   301  LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY NQNDPNRCEL
   361  LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC LCCWCQSFEE KQSLEEKQSC
   421  LKFKANDHGY DNFRSSNKYS SS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EDNRB 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
7
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
120 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 120 nTPM
  • adipose tissue: 60 nTPM
  • basal ganglia: 52 nTPM
  • cerebral cortex: 49 nTPM
  • lung: 48 nTPM
  • liver: 48 nTPM

Single-cell type

  • melanocytes: 750 nCPM
  • astrocytes: 305 nCPM
  • pericytes: 262 nCPM
  • lymphatic endothelial cells: 193 nCPM
  • bergmann glia: 186 nCPM
  • hepatic stellate cells: 174 nCPM

Immune cell

  • classical monocyte: 0.4 nTPM
  • intermediate monocyte: 0.4 nTPM
  • total PBMC: 0.1 nTPM
  • basophil: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • spinal cord: 209 nTPM
  • white matter: 165 nTPM
  • medulla oblongata: 163 nTPM
  • midbrain: 144 nTPM
  • thalamus: 140 nTPM
  • hypothalamus: 111 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EDNRB.

Disease | AllUniProt

Conditions EDNRB is implicated in, by any mechanism.

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 382 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)
0.59
gnomAD pLI
0.01
gnomAD missense Z
1.18
DepMap mean gene effect
0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EDNRB as an antibody target. Whether an autoantibody or antibody against EDNRB could matter depends on whether native EDNRB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EDNRB is annotated at the cell surface, where native EDNRB 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 EDNRB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EDNRB. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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