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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 growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]
BTC (Betacellulin) is a Protein Coding gene. Diseases associated with BTC include Insulinoma and Squamous Blepharitis. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include growth factor activity and epidermal growth factor receptor binding. An important paralog of this gene is TGFA.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J074793 | Promoter/Enhancer | 1.4 | Ensembl ENCODE CraniofacialAtlas | 638.4 | +0.4 | 432 | 1.8 | HNRNPL CTCF PRDM10 REST FOXA1 PATZ1 SP1 GTF2F1 ZNF341 ZFX | BTC piR-45012-376 AREG | |
GH04J074796 | Enhancer | 0.2 | FANTOM5 | 617 | -1.6 | -1589 | 0.4 | BTC HSALNG0035228 PARM1 | ||
GH04J074932 | Promoter/Enhancer | 2.1 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas | 6.3 | -139.0 | -138983 | 3.4 | CTCF PRDM10 ZNF692 LARP7 ZNF143 RAD21 ZNF501 RELA POLR2A EZH2 | PARM1 lnc-BTC-1 BTC KR153194-146 THAP6 | |
GH04J074768 | Enhancer | 0.9 | Ensembl ENCODE | 4.6 | +25.4 | 25445 | 1.1 | GATAD2A ZNF629 FOXA1 FOXJ2 SP1 ZEB1 NR3C1 FOXA2 OSR2 CTCF | BTC piR-45012-376 AREG | |
GH04J074770 | Enhancer | 0.2 | Ensembl | 13 | +24.2 | 24217 | 0.2 | BTC piR-45012-376 AREG |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005154 | epidermal growth factor receptor binding | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 19740107 |
GO:0008083 | growth factor activity | TAS,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
3 | Signaling by ERBB2 | ||
4 | GAB1 signalosome |
.89
|
|
5 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0007165 | signal transduction | TAS | -- |
GO:0007173 | epidermal growth factor receptor signaling pathway | TAS | -- |
GO:0008284 | positive regulation of cell proliferation | TAS,IBA | 21873635 |
GO:0035810 | positive regulation of urine volume | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cetuximab | Approved | Pharma | EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors | 869 | ||
Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 | ||
Durvalumab | Approved, Investigational | Pharma | 469 | |||
Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2451 | ||
Lenvatinib | Approved, Investigational | Pharma | Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 155 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BTC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BTC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC482682 30 |
|
||
BTC 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Btc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Btc 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BTC 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BTC 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497610 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | btc 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
780468 | Benign: not provided | 74,770,091(-) | G/A | MISSENSE_VARIANT | |
rs11938093 | - | p.Leu124Met | |||
rs28549760 | - | p.Cys7Gly | |||
rs56320257 | - | p.Leu44Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3601020 | CNV | loss | 21293372 |
nsv1009099 | CNV | gain | 25217958 |
nsv4390 | CNV | deletion | 18451855 |
nsv7363 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
insulinoma |
|
|
squamous blepharitis |
|
|
bile duct cancer |
|
|
vallecula cancer |
|
|
brachydactyly, type c |
|
|