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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EDNRB
endothelin receptor type B
Chromosome 13 Β· 13q22.3
NCBI Gene: 1910Ensembl: ENSG00000136160.18HGNC: HGNC:3180UniProt: P24530
261PubMed Papers
23Diseases
10Drugs
40Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endothelin receptor activityendothelin receptor signaling pathwayvasoconstrictionmacrophage chemotaxisWaardenburg syndrome type 4AABCD syndromepulmonary arterial hypertensionhypertension
✦AI Summary

EDNRB (endothelin receptor type B) is a G protein-coupled receptor that mediates signaling by endothelins 1, 2, and 3 through phosphatidylinositol-calcium second messenger pathways. EDNRB plays critical roles in enteric nervous system development and pigmentation during neural crest cell differentiation 1. The receptor functions in multiple developmental and physiological processes. It regulates enteric neurogenesis, as demonstrated by studies showing GDNF-induced neuronal regeneration in EDNRB-deficient mouse models of Hirschsprung disease 2. EDNRB is expressed in specialized capillary endothelial cells (aerocytes) in the lung 3 and serves as a marker for iron-rich tumor-associated macrophages that support angiogenesis and immunosuppression 4. Additionally, EDN3/EDNRB signaling promotes browning of white adipose tissue through cAMP-EPAC1-ERK activation, regulating thermogenic differentiation and metabolic homeostasis 5. Clinically, EDNRB mutations cause Hirschsprung disease (characterized by intestinal aganglionosis) 6 and Waardenburg syndrome type IV (Shah-Waardenburg syndrome), featuring pigmentation abnormalities, hearing loss, and enteric nervous system dysfunction 7. EDNRB deficiency in Hirschsprung patients increases sensorineural deafness risk 8. Understanding EDNRB biology offers therapeutic potential for treating these congenital conditions and metabolic disorders.

Sources cited
1
EDNRB is one of the most common genes involved in familial and isolated Hirschsprung disease
PMID: 37828049
2
EDNRB is a marker gene characterizing aerocytes, a specific capillary endothelial cell subpopulation in human lungs
PMID: 34030460
3
EDNRB mutations cause Waardenburg syndrome and are involved in pigmentation and developmental processes
PMID: 20127975
4
EDNRB impairments cause increased risk of sensorineural deafness in Hirschsprung disease patients
PMID: 22295143
5
GDNF induces enteric neurogenesis in EDNRB-deficient mouse models of Hirschsprung disease, demonstrating EDNRB's role in enteric nervous system development
PMID: 32687927
6
EDNRB is a specific marker of iron-rich tumor-associated macrophages with immunosuppressive and angiogenic functions
PMID: 39347789
7
EDNRB mutations cause Waardenburg syndrome type IV (Shah-Waardenburg syndrome) with Hirschsprung disease, pigmentation abnormalities, and hearing loss
PMID: 9279758
8
EDN3/EDNRB signaling promotes thermogenic differentiation of white adipose tissue through cAMP-EPAC1-ERK activation
PMID: 39174539
Disease Associationsβ“˜23
Waardenburg syndrome type 4AOpen Targets
0.79Strong
ABCD syndromeOpen Targets
0.67Moderate
pulmonary arterial hypertensionOpen Targets
0.61Moderate
hypertensionOpen Targets
0.59Moderate
pulmonary hypertensionOpen Targets
0.59Moderate
Hirschsprung diseaseOpen Targets
0.56Moderate
systemic sclerodermaOpen Targets
0.53Moderate
Waardenburg-Shah syndromeOpen Targets
0.51Moderate
congenital heart diseaseOpen Targets
0.51Moderate
Waardenburg syndromeOpen Targets
0.50Moderate
Abnormality of the skeletal systemOpen Targets
0.50Moderate
hair colorOpen Targets
0.44Moderate
Waardenburg syndrome type 2Open Targets
0.39Weak
genetic disorderOpen Targets
0.38Weak
idiopathic pulmonary fibrosisOpen Targets
0.38Weak
cardiovascular diseaseOpen Targets
0.37Weak
Hearing impairmentOpen Targets
0.37Weak
ulcer diseaseOpen Targets
0.35Weak
aganglionosis, total intestinalOpen Targets
0.34Weak
heart failureOpen Targets
0.34Weak
ABCD syndromeUniProt
Hirschsprung disease 2UniProt
Waardenburg syndrome 4AUniProt
Pathogenic Variants40
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)Pathogenic
Waardenburg syndrome type 4A|not provided|Monogenic hearing loss
β˜…β˜…β˜†β˜†2026β†’ Residue 253
NM_001122659.3(EDNRB):c.596+1G>APathogenic
not provided|Hirschsprung disease, susceptibility to, 2|Melanoma|Monogenic hearing loss
β˜…β˜…β˜†β˜†2025
NM_001122659.3(EDNRB):c.1085+1G>ALikely pathogenic
Waardenburg syndrome type 4A|not provided
β˜…β˜…β˜†β˜†2025
NM_001122659.3(EDNRB):c.902del (p.Met300_Leu301insTer)Pathogenic
Waardenburg syndrome type 4A|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 300
NM_001122659.3(EDNRB):c.1143dup (p.Asn382Ter)Pathogenic
EDNRB-related disorder|not provided|Waardenburg syndrome type 4A
β˜…β˜…β˜†β˜†2025β†’ Residue 382
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)Pathogenic
ABCD syndrome|Waardenburg syndrome type 4A|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 201
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter)Likely pathogenic
not provided|Hearing impairment
β˜…β˜…β˜†β˜†2021β†’ Residue 293
NM_001122659.3(EDNRB):c.802-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001122659.3(EDNRB):c.393C>A (p.Cys131Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 131
NM_001122659.3(EDNRB):c.1008G>A (p.Trp336Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 336
NM_001122659.3(EDNRB):c.431C>T (p.Ala144Val)Likely pathogenic
Waardenburg syndrome type 4A
β˜…β˜†β˜†β˜†2025β†’ Residue 144
NM_001122659.3(EDNRB):c.430G>T (p.Ala144Ser)Likely pathogenic
Waardenburg syndrome type 4A
β˜…β˜†β˜†β˜†2025β†’ Residue 144
NM_001122659.3(EDNRB):c.661G>T (p.Glu221Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 221
NC_000013.11:g.77900653CT[1]Pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001122659.3(EDNRB):c.1194+2T>CPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)Pathogenic
Waardenburg syndrome type 4A
β˜…β˜†β˜†β˜†2024β†’ Residue 98
NM_001122659.3(EDNRB):c.482A>T (p.Lys161Met)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 161
NM_001122659.3(EDNRB):c.5del (p.Gln2fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 2
NM_001122659.3(EDNRB):c.87_88dup (p.Gly30fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 30
NM_001122659.3(EDNRB):c.801+2T>ALikely pathogenic
EDNRB-related disorder|not provided
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Drug Targets10
AMBRISENTANApproved
Endothelin receptor, ET-A/ET-B antagonist
APROCITENTANApproved
Endothelin receptor, ET-A/ET-B antagonist
hypertension
BOSENTANApproved
Endothelin receptor, ET-A/ET-B antagonist
pulmonary arterial hypertension
DARUSENTANPhase III
Endothelin receptor ET-A antagonist
hypotension
ENRASENTANPhase II
Endothelin receptor ET-B antagonist
pulmonary arterial hypertension
MACITENTANApproved
Endothelin receptor, ET-A/ET-B antagonist
RG-7636Phase I
Tubulin inhibitor
melanoma
SITAXENTANApproved
Endothelin receptor, ET-A/ET-B antagonist
hypertension
SITAXENTAN SODIUMApproved
Endothelin receptor, ET-A/ET-B antagonist
pulmonary hypertension
TEZOSENTANPhase III
Endothelin receptor ET-A antagonist
heart disease
Related Genes
KITLGProtein interaction100%ECE1Protein interaction99%GNA13Protein interaction99%AGTProtein interaction98%GNAQProtein interaction97%GNA11Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Lung
86%
Liver
54%
Brain
46%
Ovary
8%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
EDNRBKITLGECE1GNA13AGTGNAQGNA11
PROTEIN STRUCTURE
Preparing viewer…
PDB6IGK Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.49Tolerant
Observed/Expected LoF0.39 [0.27–0.58]
RankingsWhere EDNRB stands among ~20K protein-coding genes
  • #1,448of 20,598
    Most Researched261 Β· top 10%
  • #262of 1,025
    FDA-Approved Drug Targets6
  • #1,533of 5,498
    Most Pathogenic Variants40
  • #3,928of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedEDNRB
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Hirschsprung disease.
PMID: 37828049
Nat Rev Dis Primers Β· 2023
1.00
2
Integrated Single-Cell Atlas of Endothelial Cells of the Human Lung.
PMID: 34030460
Circulation Β· 2021
0.90
3
Review and update of mutations causing Waardenburg syndrome.
PMID: 20127975
Hum Mutat Β· 2010
0.80
4
c-Ret-mediated hearing losses.
PMID: 22295143
Int J Clin Exp Pathol Β· 2012
0.70
5
Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease.
PMID: 14669347
World J Gastroenterol Β· 2003
0.68