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Gene Gene information from NCBI Gene database.
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 miRNA information provided by mirtarbase database.
37 Show/Hide all (37)
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 ELISAImmunohistochemistryImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 24762440
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37 Show/Hide all (37)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600345 1121 ENSG00000174808
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Family and domains
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
ErbB signaling pathway 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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (16)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog 30573740
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRONCHOPNEUMONIA — GWAS catalog 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — GWAS catalog 30804561, 33106845, 33909500, 37069358
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS — GWAS catalog 37932435
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog 25866641
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (57)
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