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GeneE
50 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.
ERBB3
erb-b2 receptor tyrosine kinase 3
Chromosome 12 Β· 12q13.2
NCBI Gene: 2065Ensembl: ENSG00000065361.18HGNC: HGNC:3431UniProt: P21860
575PubMed Papers
23Diseases
17Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinaseReceptor
RESEARCH IMPACT
Highly Studied
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
neuron apoptotic processErbB-3 class receptor bindingprotein heterodimerization activityERBB3:ERBB2 complexvisceral neuropathy, familial, 1, autosomal recessivelethal congenital contracture syndrome 2cancerurinary bladder carcinoma
✦AI Summary

ERBB3 is a receptor tyrosine kinase that functions as a cell surface receptor for neuregulins, particularly neuregulin-1 (NRG1) 1. Upon ligand binding, ERBB3 undergoes phosphorylation and associates with the p85 subunit of phosphatidylinositol 3-kinase, activating downstream survival and proliferation pathways 1. Despite its kinase domain being functionally defective, ERBB3 activates prominent signaling through PI3K/AKT pathways and interacts with multiple downstream effectors including GRB, SHC, and SRC 2. ERBB3 plays critical roles in cell differentiation and development, particularly in enteric neuron specification and cardiac homeostasis 34. Disease relevance is substantial and multisystem. Loss-of-function ERBB3 mutations cause complex developmental syndromes including Hirschsprung disease, contracture syndromes, and gastrointestinal dysmotility 53. In cancer, ERBB3 is frequently amplified or mutated across multiple tumor types including colorectal, pancreatic, breast, and lung cancers, contributing to treatment resistance 672. Additionally, ERBB3 dysregulation associates with pulmonary hypertension through endothelial dysfunction 8 and type 1 diabetes susceptibility 9. Reduced circulating ERBB3 correlates with heart failure risk and cardiovascular mortality independent of diabetes status 4. These findings establish ERBB3 as a therapeutic target across multiple pathologies.

Sources cited
1
ERBB3 activation by NRG1 binding and association with PI3K p85 subunit
PMID: 20682778
2
ERBB3 tyrosine kinase domain is functionally defective and downstream signaling through PI3K/AKT and other effectors
PMID: 18404164
3
ERBB3 variants cause Hirschsprung disease and gastrointestinal dysmotility through enteric progenitor dysfunction
PMID: 33497358
4
ERBB3 deficiency causes multisystemic syndrome with Hirschsprung disease, contractures, and cardiac defects
PMID: 38009810
5
Lower circulating ERBB3 associates with left ventricular dysfunction, incident heart failure, and cardiovascular mortality
PMID: 39180332
6
ERBB3 amplification and mutations occur in colorectal cancer and represent precision treatment targets
PMID: 29338072
7
CAF-derived NRG1 activates ERBB3 to enable KRAS inhibitor resistance in pancreatic cancer
PMID: 37775182
8
ERBB3 upregulation governs endothelial dysfunction in hypoxia-induced pulmonary hypertension
PMID: 38214194
9
ERBB3 rs2292239 polymorphism associates with type 1 diabetes susceptibility
PMID: 31467911
Disease Associationsβ“˜23
visceral neuropathy, familial, 1, autosomal recessiveOpen Targets
0.73Strong
lethal congenital contracture syndrome 2Open Targets
0.69Moderate
cancerOpen Targets
0.67Moderate
urinary bladder carcinomaOpen Targets
0.60Moderate
Lethal congenital contracture syndrome type 2Open Targets
0.60Moderate
urinary bladder cancerOpen Targets
0.59Moderate
non-small cell lung carcinomaOpen Targets
0.59Moderate
neoplasmOpen Targets
0.58Moderate
colorectal adenocarcinomaOpen Targets
0.52Moderate
medullary thyroid gland carcinomaOpen Targets
0.52Moderate
erythroleukemia, familial, susceptibility toOpen Targets
0.45Moderate
breast cancerOpen Targets
0.44Moderate
gastric adenocarcinomaOpen Targets
0.44Moderate
prostate cancerOpen Targets
0.44Moderate
cholangiocarcinomaOpen Targets
0.44Moderate
thyroid carcinomaOpen Targets
0.44Moderate
breast adenocarcinomaOpen Targets
0.44Moderate
colorectal cancerOpen Targets
0.43Moderate
type 1 diabetes mellitusOpen Targets
0.42Moderate
head and neck malignant neoplasiaOpen Targets
0.41Moderate
Erythroleukemia, familialUniProt
Lethal congenital contracture syndrome 2UniProt
Visceral neuropathy, familial, 1, autosomal recessiveUniProt
Pathogenic Variants21
NM_001982.4(ERBB3):c.547_547+2delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001982.4(ERBB3):c.3202-2A>GLikely pathogenic
Lethal congenital contracture syndrome 2
β˜…β˜†β˜†β˜†2025
NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr)Likely pathogenic
Lethal congenital contracture syndrome 2
β˜…β˜†β˜†β˜†2024β†’ Residue 418
NM_001982.4(ERBB3):c.874+1G>ALikely pathogenic
Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2024
NM_001982.4(ERBB3):c.237G>A (p.Trp79Ter)Likely pathogenic
Erythroleukemia, familial, susceptibility to;Lethal congenital contracture syndrome 2;Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 79
NM_001982.4(ERBB3):c.3223del (p.Ser1075fs)Likely pathogenic
Erythroleukemia, familial, susceptibility to;Lethal congenital contracture syndrome 2;Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 1075
NM_001982.4(ERBB3):c.83-2A>GLikely pathogenic
Erythroleukemia, familial, susceptibility to;Lethal congenital contracture syndrome 2;Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2024
NM_001982.4(ERBB3):c.1184-9A>GLikely pathogenic
Lethal congenital contracture syndrome 2|not provided
β˜…β˜†β˜†β˜†2024
NM_001982.4(ERBB3):c.234+2T>CLikely pathogenic
ERBB3-related disorder
β˜…β˜†β˜†β˜†2024
NM_001982.4(ERBB3):c.1881_1891del (p.Asp628fs)Likely pathogenic
ERBB3-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 628
NM_001982.4(ERBB3):c.1330C>T (p.Arg444Ter)Likely pathogenic
ERBB3-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 444
NM_001982.4(ERBB3):c.2942_2945delPathogenic
Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2022
NM_001982.4(ERBB3):c.1914-7C>GPathogenic
Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2022
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met)Likely pathogenic
Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2022β†’ Residue 899
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro)Likely pathogenic
Visceral neuropathy, familial, 1, autosomal recessive
β˜…β˜†β˜†β˜†2022β†’ Residue 787
NM_001982.4(ERBB3):c.2274+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2016
NM_001982.4(ERBB3):c.3297del (p.His1100fs)Pathogenic
Visceral neuropathy, familial, 1, autosomal recessive
β˜†β˜†β˜†β˜†2021β†’ Residue 1100
NM_001982.4(ERBB3):c.180G>A (p.Met60Ile)Pathogenic
Malignant tumor of urinary bladder
β˜†β˜†β˜†β˜†β†’ Residue 60
NM_001982.4(ERBB3):c.310G>A (p.Val104Met)Pathogenic
Malignant tumor of urinary bladder|Neoplasm
β˜†β˜†β˜†β˜†β†’ Residue 104
NM_001982.4(ERBB3):c.307C>T (p.Arg103Cys)Pathogenic
Malignant tumor of urinary bladder
β˜†β˜†β˜†β˜†β†’ Residue 103
View on ClinVar β†—
Drug Targets17
AMG-888Phase I
Receptor tyrosine-protein kinase erbB-3 inhibitor
neoplasm
AV-203Phase I
Receptor tyrosine-protein kinase erbB-3 inhibitor
CDX-3379Phase II
Receptor tyrosine-protein kinase erbB-3 inhibitor
squamous cell carcinoma
DULIGOTUZUMABPhase II
Receptor tyrosine-protein kinase erbB-3 inhibitor
colorectal cancer
ELGEMTUMABPhase I/II
Receptor tyrosine-protein kinase erbB-3 inhibitor
breast cancer
ISTIRATUMABPhase II
Insulin-like growth factor I receptor inhibitor
Malignant Pancreatic Neoplasm
KBP5209Phase I
Epidermal growth factor receptor inhibitor
neoplasm
LUMRETUZUMABPhase I/II
Receptor tyrosine-protein kinase erbB-3 inhibitor
non-small cell lung carcinoma
MM-111Phase II
ErbB-2/ErbB-3 heterodimer inhibitor
breast cancer
PATRITUMABPhase I/II
Receptor tyrosine-protein kinase erbB-3 inhibitor
non-small cell lung carcinoma
PATRITUMAB DERUXTECANApproved
Receptor tyrosine-protein kinase erbB-3 binding agent
neoplasm
POZIOTINIBPhase III
Epidermal growth factor receptor inhibitor
non-small cell lung carcinoma
SAPITINIBPhase II
Epidermal growth factor receptor erbB1 inhibitor
breast cancer
SERIBANTUMABPhase II
Receptor tyrosine-protein kinase erbB-3 antagonist
TARLOXOTINIBPhase II
Epidermal growth factor receptor inhibitor
non-small cell lung carcinoma
VANDETANIBApproved
Ephrin receptor inhibitor
ZENOCUTUZUMABApproved
ErbB-2/ErbB-3 heterodimer inhibitor
Related Genes
PIK3R3Protein interaction100%PIK3R1Protein interaction100%PIK3CBProtein interaction100%PIK3CDProtein interaction100%PIK3CAProtein interaction100%PDGFCProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
18%
Lung
9%
Heart
5%
Ovary
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ERBB3PIK3R3PIK3R1PIK3CBPIK3CDPIK3CAPDGFC
PROTEIN STRUCTURE
Preparing viewer…
PDB7BHF Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.49–0.69]
RankingsWhere ERBB3 stands among ~20K protein-coding genes
  • #412of 20,598
    Most Researched575 Β· top 5%
  • #444of 1,025
    FDA-Approved Drug Targets3
  • #2,124of 5,498
    Most Pathogenic Variants21
  • #5,260of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedERBB3
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
ErbB3 Governs Endothelial Dysfunction in Hypoxia-Induced Pulmonary Hypertension.
PMID: 38214194
Circulation Β· 2024
1.00
2
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
PMID: 29338072
Cancer Β· 2018
0.90
3
Trans-activating mutations of the pseudokinase ERBB3.
PMID: 38806620
Oncogene Β· 2024
0.86
4
Cell Lineage-Based Stratification for Glioblastoma.
PMID: 32649888
Cancer Cell Β· 2020
0.84
5
The rs705708 A allele of the ERBB3 gene is associated with lower prevalence of diabetic retinopathy and arterial hypertension and with improved renal function in type 1 diabetic patients.
PMID: 35594935
Microvasc Res Β· 2022
0.82