BTC (betacellulin)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
685
Gene name Gene Name - the full gene name approved by the HGNC.
Betacellulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTC
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 ELISA, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 24762440
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0005154 Function Epidermal growth factor receptor binding IBA 21873635
GO:0005515 Function Protein binding IPI 19740107, 25416956, 25910212, 26871637, 32296183
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600345 1121 ENSG00000174808
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Nephrotic syndrome Nephrotic Syndrome rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910
View all (152 more)		 29903748
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 20218926
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561 ClinVar
Erythropoietic protoporphyria Erythropoietic Protoporphyria 19267999 ClinVar
Show/Hide Text Mining Associations (19)
Associations from Text Mining
Disease Name Relationship Type References
Acro Osteolysis Associate 24242705
Breast Neoplasms Associate 17962208
Breast Neoplasms Inhibit 18949710
Carcinoma Associate 15274392
Colorectal Neoplasms Associate 29361822
Coronary Artery Disease Associate 12869389
Dermatitis Atopic Inhibit 36232814
Gastrointestinal Stromal Tumors Associate 19298600
Glaucoma Associate 36415692
Histiocytoma Malignant Fibrous Associate 15274392