• Gene id: 685

Gene Summary

• Gene Symbol: BTC   Gene   UCSC   Ensembl
• Gene name: betacellulin
• Alternate names: probetacellulin,
• Gene location: 4q13.3 (74794717: 74744758)     Exons: 8     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 604107

Protein Summary

• Protein general information: P35070  
  • Name: Probetacellulin [Cleaved into: Betacellulin (BTC)]
  • Length: 178  
  • Mass: 19746
  • Tissue specificity: Synthesized in several tissues and tumor cells. Predominantly expressed in pancreas and small intestine. {ECO
• Sequence:

  MDRAARCSGASSLPLLLALALGLVILHCVVADGNSTRSPETNGLLCGDPEENCAATTTQSKRKGHFSRCPKQYKH
  YCIKGRCRFVVAEQTPSCVCDEGYIGARCERVDLFYLRGDRGQILVICLIAVMVVFIILVIGVCTCCHPLRKRRK
  RKKKEEEMETLGKDITPINEDIEETNIA

• Structural information:
  • Protein Domains: (65..10-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR013032  IPR000742  
  • Prosite: PS00022 PS01186 PS50026
  • PDB: 1IOX 1IP0
  • PDBsum: 1IOX 1IP0
  • DIP: 5768
  • STRING: ENSP00000379092
• Other Databases: GeneCards:  BTC  Malacards:  BTC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007173	epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	IBA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IBA	biological process
GO:0005154	epidermal growth factor receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0051781	positive regulation of cell division	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005154	epidermal growth factor receptor binding	TAS	molecular function
GO:0008083	growth factor activity	TAS	molecular function
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:2000145	regulation of cell motility	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0035810	positive regulation of urine volume	IEA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IEA	biological process
GO:0048146	positive regulation of fibroblast proliferation	IEA	biological process
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04012	ErbB signaling pathway

Diseases

Associated diseases	References
Insulinoma	PMID:10724350
type 2 diabetes mellitus	PMID:15793259
type 2 diabetes mellitus	PMID:16306376
type 1 diabetes mellitus	PMID:16683131
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881