Free for academic non-profit institutions. Other users need a Commercial license
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 protei... See more...
Aliases for BTC Gene
External Ids for BTC Gene
- HGNC: 1121
- NCBI Entrez Gene: 685
- Ensembl: ENSG00000174808
- OMIM®: 600345
- UniProtKB/Swiss-Prot: P35070
Previous GeneCards Identifiers for BTC Gene
- GC04M075557
- GC04M075843
- GC04M076062
- GC04M076128
- GC04M076129
- GC04M076027
- GC04M075889
- GC04M075669
- GC04M071418
Summaries for BTC 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 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]
GeneCards Summary for BTC Gene
BTC (Betacellulin) is a Protein Coding gene. Diseases associated with BTC include Squamous Blepharitis and Insulinoma. Among its related pathways are RET signaling and Nanog in Mammalian ESC Pluripotency. 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.
UniProtKB/Swiss-Prot Summary for BTC Gene
-
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.
Additional gene information for BTC Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTC Gene
Genomics for BTC Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BTC Gene
| 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 | 288.4 | +0.4 | 432 | 1.8 | YY1 FEZF1 ZNF341 CTCF SIN3A RXRA SMC3 GABPB1 HNF4A MAZ | BTC HSALNG0035227 AREG | |
| GH04J074796 | Enhancer | 0.2 | FANTOM5 | 267 | -1.6 | -1589 | 0.4 | BTC HSALNG0035228 PARM1 | ||
| GH04J074932 | Promoter/Enhancer | 2.1 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas | 6.3 | -139.3 | -139278 | 2.8 | ZNF654 ZNF600 POLR2A ZBTB10 ZNF592 ZNF341 CTCF SIN3A SMC3 GABPB1 | PARM1 lnc-BTC-1 BTC KR153194-145 THAP6 | |
| GH04J074768 | Enhancer | 0.9 | Ensembl ENCODE | 4.6 | +25.4 | 25369 | 1.3 | NFIC ZEB1 FOXA2 FOSL2 JUND TCF7L2 ZFP37 HNF4A HMG20A CTCF | BTC HSALNG0035227 AREG | |
| GH04J074682 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 0.1 | +111.6 | 111648 | 1.5 | NCOR1 IKZF1 ZNF592 NFIC REST BHLHE40 MBD2 ARNT EP300 TAF9B | HSALNG0035223 HSALNG0035221 BTC AREG |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BTC on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTC
- Top Transcription factor binding sites by QIAGEN in the BTC gene promoter:
-
- CREB
- deltaCREB
- FOXI1
- FOXO1
- FOXO1a
- FOXO4
- HFH-3
Genomic Locations for BTC Gene
Latest Assembly
- chr4:74,744,759-74,794,718
- (GRCh38/hg38)
- Size:
- 49,960 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:75,669,969-75,719,733
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 49,765 bases
- Orientation:
- Minus strand
Genomic View for BTC Gene
Genes around BTC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q13.3 by HGNC
- 4q13.3 by Entrez Gene
- 4q13.3 by Ensembl
BTC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BTC Gene
Proteins for BTC Gene
-
Protein details for BTC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35070-BTC_HUMAN
- Recommended name:
- Probetacellulin
- Protein Accession:
- P35070
- Q96F48
Protein attributes for BTC Gene
- Size:
- 178 amino acids
- Molecular mass:
- 19746 Da
- Quaternary structure:
-
- Monomer. Interacts with EGFR and ERBB4.
Protein Expression for BTC Gene
Post-translational modifications for BTC Gene
Other Protein References for BTC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences BTC / Betacellulin Antibody
- G Biosciences Immunotag™ BTC Antibody (ITA5214-100u) and Immunotag™ BTC Antibody (ITA7115-100u)
- NSJ Bioreagents BTC Antibody / Betacellulin
-
Custom Antibody ServicesOriGene Antibodies for BTC
- Novus Biologicals Antibodies for BTC
-
Abcam antibodies for BTC
- Invitrogen Antibodies for BTC (AFLGC-BTC)
-
Biorbyt antibodies for BTC
-
Custom Antibody ServicesProSci Antibodies for BTC
-
Santa Cruz Biotechnology (SCBT) Antibodies for BTC
Protein products for research
- RayBiotech Recombinant Human Betacellulin
-
OriGene Purified Proteins for BTC
- Search Origene for MassSpec and Protein Over-expression Lysates for BTC
- Origene Custom Protein Services for BTC
- Sino Biological Recombinant Proteins for BTC
- Sino Biological Cell Lysates for BTC
- ProSpec Recombinant Proteins for BTC
-
Abcam proteins for BTC
Assay products for research
- RayBiotech Human BTC ELISA
- Novus Biologicals ELISA Kits for BTC
- antibodies-online: Show 78 available Betacellulin Elisa Kits ranked by validation data
- Compare Top Betacellulin Elisa Kits
-
Quality Products:
- ABIN1113754
- ABIN625268
- ABIN1672881
- ABIN414356
- ABIN1028203
- ABIN3032899
- ABIN924755
- ABIN5520002
- ABIN2708080
- ABIN6720035
- ABIN1113703
- ABIN1889364
- ABIN415587
- ABIN5520003
- ABIN2708422
- ABIN2683571
- ABIN5669713
- ABIN1568688
- ABIN367758
- ABIN772851
- ABIN1113702
- ABIN1889437
- ABIN5520004
- ABIN2683572
- ABIN1568689
- ABIN771529
- ABIN6720370
- ABIN2748894
- ABIN4967500
- ABIN2945574
- ABIN989451
- ABIN4967499
- ABIN1149901
No data available for DME Specific Peptides for BTC Gene
Domains & Families for BTC Gene
Gene Families for BTC Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for BTC Gene
- InterPro:
- Blocks:
-
- Type I EGF
- Type I EGF signature
Suggested Antigen Peptide Sequences for BTC Gene
- GenScript: Design optimal peptide antigens:
-
- Probetacellulin (BTC_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BTC Gene
Function for BTC Gene
Molecular function for BTC Gene
- UniProtKB/Swiss-Prot 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.
- GENATLAS Biochemistry:
- betacellulin,ECF family
Phenotypes From GWAS Catalog for BTC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005154 | epidermal growth factor receptor binding | IEA,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 19740107 |
| GO:0008083 | growth factor activity | TAS,IBA | 21873635 |
Phenotypes for BTC Gene
- MGI mutant phenotypes for BTC:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BTC:
Animal Models for BTC Gene
- MGI Knock Outs for BTC:
-
- Btc Btc<tm1Dcl>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BTC - Starting at $85 >
- * BTC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BTC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BTC
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTC
miRNA for BTC Gene
- miRTarBase miRNAs that target BTC
-
- hsa-miR-124-3p (MIRT022504)
- hsa-miR-1-3p (MIRT023635)
- hsa-miR-215-5p (MIRT024368)
- hsa-miR-192-5p (MIRT026321)
- hsa-miR-200b-3p (MIRT437874)
- hsa-miR-200c-3p (MIRT437875)
- hsa-miR-599 (MIRT445029)
- hsa-miR-1273e (MIRT445030)
- hsa-miR-3161 (MIRT445031)
- hsa-miR-5682 (MIRT445032)
- hsa-miR-5589-3p (MIRT445033)
- hsa-miR-585-5p (MIRT445034)
- hsa-miR-4717-3p (MIRT445035)
- mmu-miR-5125 (MIRT599566)
- mmu-miR-3110-5p (MIRT599567)
- mmu-miR-150-5p (MIRT599568)
- mmu-miR-5127 (MIRT599569)
- mmu-miR-3474 (MIRT599570)
- mmu-miR-1186b (MIRT599571)
- mmu-miR-3087-3p (MIRT606510)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BTC
- Browse OriGene Inhibitory RNA Products For BTC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTC
Clone products for research
- Applied Biological Materials (abm): Clones for BTC - Starting at $45 >
- * BTC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BTC
- Addgene plasmids for BTC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BTC
Cell Lines for research
-
Horizon Cell Lines for BTC
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BTC Gene
Localization for BTC Gene
Subcellular locations from UniProtKB/Swiss-Prot for BTC Gene
- [Betacellulin]: Secreted, extracellular space.
- [Probetacellulin]: Cell membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTC Gene
Pathways & Interactions for BTC Gene
| 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 | PI3K/AKT activation |
.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
|
Pathways by source for BTC Gene
3 BioSystems pathways for BTC Gene
71 Reactome pathways for BTC Gene
1 PharmGKB pathway for BTC Gene
1 KEGG pathway for BTC Gene
2 GeneGo (Thomson Reuters) pathways for BTC Gene
- Development EGFR signaling pathway
- Development ERBB-family signaling
55 Qiagen pathways for BTC Gene
- 14-3-3 Induced Intracellular Signaling
- Actin-Based Motility by Rho Family GTPases
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
Interacting Proteins for BTC Gene
Selected Interacting proteins:
P35070-BTC_HUMAN
ENSP00000379092
for BTC Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BTC
| 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 | -- |
Drugs & Compounds for BTC Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cetuximab | Approved | Pharma | EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors | 902 | ||
| Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3624 | ||
| Durvalumab | Approved, Investigational | Pharma | 543 | |||
| Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2590 | ||
| Lenvatinib | Approved, Investigational | Pharma | Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 216 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for BTC Gene
mRNA/cDNA for BTC Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000395743 2653 nts (view in UCSC)
- ENST00000512743 624 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BTC - Starting at $85 >
- * BTC CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BTC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BTC
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTC
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BTC
- Browse OriGene Inhibitory RNA Products For BTC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTC
Clone products for research
- Applied Biological Materials (abm): Clones for BTC - Starting at $45 >
- * BTC as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BTC
- Addgene plasmids for BTC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BTC
Relevant External Links for BTC Gene
- GeneLoc Exon Structure for
- BTC
Expression for BTC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
mRNA differential expression in normal tissues according to GTEx for BTC Gene
This gene is overexpressed in Colon - Sigmoid (x7.9), Esophagus - Muscularis (x6.5), and Esophagus - Gastroesophageal Junction (x6.4).
This gene is overexpressed in Colon (26.4), Gallbladder (24.5), and Retina (18.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTC Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTC
SOURCE GeneReport for Unigene cluster for BTC Gene:
Hs.710156mRNA Expression by UniProt/SwissProt for BTC Gene:
P35070-BTC_HUMAN
Tissue specificity:
Synthesized in several tissues and tumor cells. Predominantly expressed in pancreas and small intestine.
Evidence on tissue expression from TISSUES for BTC Gene
- Skin(2.2)
- Pancreas(2.2)
- Intestine(2)
Primer products for research
-
OriGene qPCR primer pairs for BTC
Gene Expression Assays for research
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTC Gene
Orthologs for BTC Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BTC 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BTC 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LOC482682 29 |
|
||
| BTC 30 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Btc 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Btc 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BTC 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BTC 29 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497610 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | btc 29 30 |
|
OneToOne |
- Species where no ortholog for BTC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for BTC Gene
- ENSEMBL:
- Gene Tree for BTC (if available)
- TreeFam:
- Gene Tree for BTC (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BTC: view image
- Alliance of Genome Resources:
- Additional Orthologs for BTC
Paralogs for BTC Gene
Variants for BTC Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTC Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs56320257 | Benign: not provided | 74,770,091(-) |
G/Ap.Leu44Phe NM_001729.4(BTC):c.130C>T (p.Leu44Phe) |
MISSENSE | |
| rs11938093 | -- |
p.Leu124Met |
|||
| rs28549760 | -- |
p.Cys7Gly |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3601020 | CNV | loss | 21293372 |
| nsv1009099 | CNV | gain | 25217958 |
| nsv4390 | CNV | deletion | 18451855 |
| nsv7363 | OTHER | inversion | 18451855 |
Residual Variation Intolerance Score:
91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.13;
92.29% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BTC Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTC Gene
Disorders for BTC Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| squamous blepharitis |
|
|
| insulinoma |
|
|
| vallecula cancer |
|
|
| mixed cell adenoma |
|
|
| squamous cell carcinoma, head and neck |
|
|
Search BTC in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BTC
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for BTC Gene
Publications for BTC Gene
- Cloning and expression of cDNA encoding human betacellulin, a new member of the EGF family. (PMID: 8439318) Sasada R … Igarashi K (Biochemical and biophysical research communications 1993) 2 3 4 22
- Association of a polymorphism in the betacellulin gene with type 1 diabetes mellitus in two populations. (PMID: 16683131) Silver KD … Mitchell BD (Journal of molecular medicine (Berlin, Germany) 2006) 3 22 40
- Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects. (PMID: 16869959) Elbein SC … Silver KD (BMC medical genetics 2006) 3 22 40
- Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients. (PMID: 15936459) Nakagawa T … Nanjo K (Diabetes research and clinical practice 2005) 3 22 40
- A functional variant in the human betacellulin gene promoter is associated with type 2 diabetes. (PMID: 16306376) Nakano Y … Nanjo K (Diabetes 2005) 3 22 40
ExternalLinks
Products for BTC Gene
- View all 11 R&D Systems BTC (Betacellulin/BTC) Products
- View all R&D Systems BTC (Betacellulin/BTC) Proteins and Enzymes
- View all 9 R&D Systems BTC (Betacellulin/BTC) Primary Antibodies
- View all R&D Systems BTC (Betacellulin/BTC) ELISAs
- Learn more about R&D Systems custom BTC antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for BTC
- Custom Assay Services
- OriGene Purified Proteins for BTC
- Search Origene for MassSpec and Protein Over-expression Lysates for BTC
- Origene Custom Protein Services for BTC
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BTC
- Browse OriGene Inhibitory RNA Products For BTC
- OriGene qPCR primer pairs for BTC
- OriGene CRISPR knockouts for BTC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BTC
- Sino Biological Human cDNA Clone for BTC
- Sino Biological Recombinant Proteins for BTC
- Sino Biological Cell Lysates for BTC
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for BTC
- Novus Biologicals proteins and lysates for BTC
- Novus Biologicals ELISA Kits for BTC
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for BTC
- Abcam proteins for BTC
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for BTC (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for BTC (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for BTC (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for BTC CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BTC
- Addgene plasmids for BTC
- antibodies-online: Show 29 available Betacellulin Antibodies ranked by validation data
- Compare Top Betacellulin Antibodies
- antibodies-online: Show 78 available Betacellulin Elisa Kits ranked by validation data
- Compare Top Betacellulin Elisa Kits
- Quality Products:
- ABIN1113754
- ABIN625268
- ABIN1672881
- ABIN414356
- ABIN1028203
- ABIN3032899
- ABIN924755
- ABIN5520002
- ABIN2708080
- ABIN6720035
- ABIN1113703
- ABIN1889364
- ABIN415587
- ABIN5520003
- ABIN2708422
- ABIN2683571
- ABIN5669713
- ABIN1568688
- ABIN367758
- ABIN772851
- ABIN1113702
- ABIN1889437
- ABIN5520004
- ABIN2683572
- ABIN1568689
- ABIN771529
- ABIN6720370
- ABIN2748894
- ABIN4967500
- ABIN2945574
- ABIN989451
- ABIN4967499
- ABIN1149901
- antibodies-online: Show 55 available Betacellulin Proteins ranked by validation data
- Compare Top Betacellulin Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for BTC
- Search Santa Cruz Biotechnology (SCBT) for BTC siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BTC
- Custom Antibody ServicesProSci Antibodies for BTC
- Horizon Cell Lines for BTC
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BTC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BTC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BTC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTC
- Biorbyt antibodies for BTC
Sources for BTC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources