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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BTC
betacellulin
Chromosome 4 · 4q13.3
NCBI Gene: 685Ensembl: ENSG00000174808.13HGNC: HGNC:1121UniProt: A0A0S2Z3I5
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
epidermal growth factor receptor signaling pathwayERBB4-ERBB4 signaling pathwayGO:0005615protein bindingcancerchronic obstructive pulmonary diseaseasthmanephrotic syndrome
✦AI Summary

Based on the provided abstracts, there is insufficient information to characterize the function of the BTC (betacellulin) gene. The abstracts exclusively discuss biliary tract cancer (BTC) and its molecular characteristics, therapeutic targets, and treatment approaches 12345678. None of the provided literature addresses betacellulin as a growth factor or its role in EGFR signaling pathways. The abstracts focus on various aspects of biliary tract cancer including FGFR2 fusions, IDH1/2 mutations, HER2-targeted therapies, patient-derived organoids for drug screening, and precision medicine approaches. To properly summarize betacellulin's function as an EGF receptor family ligand and mitogen for retinal pigment epithelial and vascular smooth muscle cells, literature specifically addressing this gene's biological functions would be required.

Sources cited
1
Discusses FGFR2 inhibition in cholangiocarcinoma but not betacellulin function
PMID: 36170665
2
Reviews targeting mutations in biliary tract cancers but not betacellulin
PMID: 36535759
3
Describes patient-derived organoids for biliary tract cancer drug screening but not betacellulin
PMID: 37944531
4
Reports zanidatamab approval for HER2+ biliary tract cancer but not betacellulin
PMID: 40108069
5
Studies trastuzumab deruxtecan in HER2-expressing biliary tract cancer but not betacellulin
PMID: 39102634
6
Analyzes mutational spectrum in biliary tract carcinoma but not betacellulin function
PMID: 33754015
7
Reviews immunotherapy for biliary tract cancer but not betacellulin
PMID: 26729196
8
Discusses precision medicine in biliary tract cancer but not betacellulin
PMID: 35839428
Disease Associationsⓘ20
cancerOpen Targets
0.58Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.44Moderate
asthmaOpen Targets
0.38Weak
nephrotic syndromeOpen Targets
0.35Weak
connective tissue diseaseOpen Targets
0.32Weak
prostate diseaseOpen Targets
0.26Weak
male reproductive organ cancerOpen Targets
0.26Weak
liver diseaseOpen Targets
0.19Weak
breast fibrocystic diseaseOpen Targets
0.17Weak
brain aneurysmOpen Targets
0.12Weak
Precordial painOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.05Suggestive
non-alcoholic steatohepatitisOpen Targets
0.04Suggestive
Kimura diseaseOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
hereditary neutrophiliaOpen Targets
0.04Suggestive
Felty's syndromeOpen Targets
0.04Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ERBB4Protein interaction100%EGFRProtein interaction100%ERBB3Protein interaction99%ADAM17Protein interaction97%ERBB2Protein interaction94%LHCGRProtein interaction77%
Tissue Expression6 tissues
Lung
100%
Ovary
57%
Liver
41%
Heart
37%
Brain
15%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
BTCERBB4EGFRERBB3ADAM17ERBB2LHCGR
PROTEIN STRUCTURE
Preparing viewer…
PDB8U4J · 3.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.67 [0.39–1.21]
RankingsWhere BTC stands among ~20K protein-coding genes
  • #8,174of 20,598
    Most Researched55
  • #12,710of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedBTC
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FGFR2 Inhibition in Cholangiocarcinoma.
PMID: 36170665
Annu Rev Med · 2023
1.00
2
[Not Available].
PMID: 36535759
Bull Cancer · 2022
0.90
3
Personalized drug screening in patient-derived organoids of biliary tract cancer and its clinical application.
PMID: 37944531
Cell Rep Med · 2023
0.80
4
Zanidatamab: First Approval.
PMID: 40108069
Drugs · 2025
0.70
5
Trastuzumab Deruxtecan in Human Epidermal Growth Factor Receptor 2-Expressing Biliary Tract Cancer (HERB; NCCH1805): A Multicenter, Single-Arm, Phase II Trial.
PMID: 39102634
J Clin Oncol · 2024
0.60