BTC (betacellulin)

Gene

• Entrez ID: 685
• Gene name: Betacellulin
• Gene symbol: BTC
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted grow

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022504	hsa-miR-124-3p	Microarray	18668037
MIRT023635	hsa-miR-1-3p	Microarray	18668037
MIRT024368	hsa-miR-215-5p	Microarray	19074876
MIRT026321	hsa-miR-192-5p	Microarray	19074876
MIRT437874	hsa-miR-200b-3p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT437874	hsa-miR-200b-3p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT437875	hsa-miR-200c-3p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT437875	hsa-miR-200c-3p	ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24762440
MIRT445035	hsa-miR-4717-3p	PAR-CLIP	22100165
MIRT445033	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT445034	hsa-miR-585-5p	PAR-CLIP	22100165
MIRT445032	hsa-miR-5682	PAR-CLIP	22100165
MIRT445031	hsa-miR-3161	PAR-CLIP	22100165
MIRT445030	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445029	hsa-miR-599	PAR-CLIP	22100165
MIRT445035	hsa-miR-4717-3p	PAR-CLIP	22100165
MIRT445033	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT445034	hsa-miR-585-5p	PAR-CLIP	22100165
MIRT445032	hsa-miR-5682	PAR-CLIP	22100165
MIRT445031	hsa-miR-3161	PAR-CLIP	22100165
MIRT445030	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445029	hsa-miR-599	PAR-CLIP	22100165
MIRT445035	hsa-miR-4717-3p	PAR-CLIP	22100165
MIRT445033	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT445034	hsa-miR-585-5p	PAR-CLIP	22100165
MIRT445032	hsa-miR-5682	PAR-CLIP	22100165
MIRT445031	hsa-miR-3161	PAR-CLIP	22100165
MIRT445030	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445029	hsa-miR-599	PAR-CLIP	22100165
MIRT445035	hsa-miR-4717-3p	PAR-CLIP	22100165
MIRT445033	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT445034	hsa-miR-585-5p	PAR-CLIP	22100165
MIRT445032	hsa-miR-5682	PAR-CLIP	22100165
MIRT445031	hsa-miR-3161	PAR-CLIP	22100165
MIRT445030	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445029	hsa-miR-599	PAR-CLIP	22100165
MIRT2183096	hsa-miR-4760-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005154	Function	Epidermal growth factor receptor binding	IBA
GO:0005154	Function	Epidermal growth factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	19740107, 25416956, 25910212, 26871637, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	9168114, 12399441
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IBA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	8144591
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	8439318
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0016020	Component	Membrane	IEA
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IDA	9168114, 12399441
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0035810	Process	Positive regulation of urine volume	IEA
GO:0038134	Process	ERBB2-EGFR signaling pathway	IEA
GO:0038138	Process	ERBB4-ERBB4 signaling pathway	IDA	9168114
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IBA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IEA
GO:0048018	Function	Receptor ligand activity	IDA	9168114, 12399441
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	TAS	8144591
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0051781	Process	Positive regulation of cell division	IEA
GO:1904019	Process	Epithelial cell apoptotic process	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA

Other IDs

• MIM: 600345
• HGNC: 1121
• e!Ensembl: ENSG00000174808

Protein

• UniProt ID: P35070
• Protein name: Probetacellulin [Cleaved into: Betacellulin (BTC)]
• Protein function: Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells.
• PDB: 1IOX, 1IP0, 8U4J, 8U4K
• Tissue specificity: TISSUE SPECIFICITY: Synthesized in several tissues and tumor cells. Predominantly expressed in pancreas and small intestine. {ECO:0000269|PubMed:8919026}.
• Sequence:

  MDRAARCSGASSLPLLLALALGLVILHCVVADGNSTRSPETNGLLCGDPEENCAATTTQS
  KRKGHFSRCPKQYKHYCIKGRCRFVVAEQTPSCVCDEGYIGARCERVDLFYLRGDRGQIL
  VICLIAVMVVFIILVIGVCTCCHPLRKRRKRKKKEEEMETLGKDITPINEDIEETNIA

• Sequence length: 178

Pathways

KEGG:

ErbB signaling pathway

Reactome:

Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PI3K events in ERBB4 signaling
SHC1 events in ERBB4 signaling
PIP3 activates AKT signaling
Signaling by EGFR
GRB2 events in EGFR signaling
GAB1 signalosome
SHC1 events in EGFR signaling
EGFR downregulation
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
EGFR interacts with phospholipase C-gamma
Constitutive Signaling by Aberrant PI3K in Cancer
Inhibition of Signaling by Overexpressed EGFR
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Downregulation of ERBB2 signaling
Extra-nuclear estrogen signaling
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 TMD/JMD mutants

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPNEUMONIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROPOIETIC PROTOPORPHYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTOPORPHYRIA, ERYTHROPOIETIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	31456099		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31145622		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	31096984		★☆☆☆☆ Found in Text Mining only
Brachydactyly type C	Brachydactyly	BEFREE	31835672		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	16676357		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18949710		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17962208	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18949710	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	15274392	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9648926		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	31835672		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29361822		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29361822	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	12869389	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	36232814	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16306376, 18388935		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16306376, 18388935		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16683131, 24875130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	16683131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15793259, 15936459, 16306376, 16869959, 17479438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ductal Carcinoma	Ductal Carcinoma	LHGDN	17962208		★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	CTD_human_DG	19267999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ferrochelatase deficiency	Ferrochelatase Deficiency	CTD_human_DG	19267999		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19298600		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	19298600	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30183321		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	36415692	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28368610, 31678994		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28368610, 31678994		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19819964, 20836700		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	17989064		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	24440602, 29473434, 8456283		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16949929		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31528908		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	LHGDN	15274392		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18949710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29339358		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29100397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28399526		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29339358, 31323001, 31654720		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17962208		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12612292	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16949929, 23888072, 31528908		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	GWASCAT_DG	29903748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	23144874	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	16869959	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27129169	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29100397		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29100397		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20218926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20218926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	25520391		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	36232814	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33466212	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28399526		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29207147	Associate	★☆☆☆☆ Found in Text Mining only