Aliases for BTC Gene
External Ids for BTC Gene
- HGNC: 1121
- Entrez Gene: 685
- Ensembl: ENSG00000174808
- OMIM: 600345
- UniProtKB: 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 Cardiomyopathy, Familial Hypertrophic, 1. Among its related pathways are ERK Signaling and Akt Signaling. 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 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTC Gene
Genomics for BTC Gene
GeneHancer (GH) Regulatory Elements for BTC Gene
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 | 1.3 | Ensembl ENCODE | 688.5 | +0.5 | 508 | 1.6 | SIN3A FEZF1 RAD21 YY1 ZNF335 ZNF143 RXRA ZBTB11 USF2 ZNF398 | BTC ENSG00000249942 | |
| GH04J074796 | Enhancer | 0.2 | FANTOM5 | 667 | -1.6 | -1621 | 0.4 | BTC GC04P074814 | ||
| GH04J074932 | Promoter/Enhancer | 2.4 | EPDnew FANTOM5 Ensembl ENCODE | 6.3 | -139.4 | -139364 | 2.5 | SIN3A STAT5A RAD21 ZNF335 GLIS2 ZNF213 ZSCAN5C SCRT2 ZNF143 ATF7 | PARM1 BTC LOC100507388 | |
| GH04J074768 | Enhancer | 0.7 | ENCODE | 4.6 | +25.5 | 25522 | 0.7 | CTCF FOXA2 JUN ZBTB40 ZEB1 HIC1 ZFHX2 GATA3 FOSL2 NR2F6 | BTC ENSG00000249942 | |
| GH04J074631 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 0.1 | +162.0 | 162031 | 2.9 | HDAC1 FEZF1 TCF12 ZNF766 EGR1 CREM EGR2 CEBPB REST MBD2 | EREG AREG ENSG00000249942 BTC |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BTC gene promoter:
-
- CREB
- deltaCREB
- FOXO1a
- FOXO1
- FOXO4
- HFH-3
- FOXI1
Regulatory Element Products
Genomic Locations for BTC Gene
Genomic Locations for BTC Gene
- chr4:74,744,759-74,794,686
- (GRCh38/hg38)
- Size:
- 49,928 bases
- Orientation:
- Minus strand
- chr4:75,669,969-75,719,896
- (GRCh37/hg19)
- Size:
- 49,928 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 Entrez Gene
- 4q13.3 by HGNC
- 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:
Antibody Products
- R&D Systems Antibodies for BTC (Betacellulin/BTC)
-
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-
Abcam antibodies for BTC
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-
Santa Cruz Biotechnology (SCBT) Antibodies for BTC
Protein Products
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-
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-
Abcam proteins for BTC
Assay Products
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- Novus Biologicals ELISA Kits for BTC
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
Protein Domains for BTC Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BTC Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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:0004713 | protein tyrosine kinase activity | TAS | -- |
| GO:0005088 | Ras guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005154 | epidermal growth factor receptor binding | IBA,TAS | -- |
| GO:0005515 | protein binding | IPI | 19740107 |
| GO:0008083 | growth factor activity | IBA | -- |
Phenotypes for BTC Gene
- MGI mutant phenotypes for BTC:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for BTC:
Animal Models for BTC Gene
- MGI Knock Outs for BTC:
-
- Btc Btc<tm1Dcl>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
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- Overview of 131 available Betacellulin gene related products
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-
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-
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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)
miRNA Products
Inhibitory RNA Products
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- Overview of 131 available Betacellulin gene related products
Clone Products
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- Addgene plasmids for BTC
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- genomics-online: cdna clones - Search results for 131 available Betacellulin gene related products
- Overview of 131 available Betacellulin gene related products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| cytosol | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IBA | -- |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | 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 |
.74
.66
|
.65
.61
.60
.57
|
| 3 | Signaling by ERBB2 | ||
| 4 | PI3K/AKT activation |
.89
|
|
| 5 | GPCR Pathway |
.73
.62
|
.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
Interacting Proteins for BTC Gene
Selected Interacting proteins:
P35070-BTC_HUMAN
ENSP00000379092
for BTC Gene via
MINT
STRING
IID
UniProtKB
GPS-Prot Interaction Network for BTC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0007173 | epidermal growth factor receptor signaling pathway | IBA | -- |
| GO:0008284 | positive regulation of cell proliferation | TAS | 8144591 |
| GO:0010469 | regulation of signaling receptor activity | IEA | -- |
| GO:0018108 | peptidyl-tyrosine phosphorylation | 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 | 784 | ||
| Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 | 2906 | ||
| Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2100 | ||
| Lenvatinib | Approved, Investigational | Pharma | Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 68 | ||
| Oxaliplatin | Approved, Investigational | Pharma | Antitumor agent, Platinum | 1560 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for BTC Gene
mRNA/cDNA for BTC Gene
- (4) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (18) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000395743 2816 bps (uc003hig.3)
- ENST00000512743 624 bps (uc062xhu.1)
CRISPR Products
-
OriGene CRISPR knockouts for BTC
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- genomics-online: gRNA clones - Search results for 131 available Betacellulin gene related products
- Overview of 131 available Betacellulin gene related products
- Applied Biological Materials CRISPR for BTC
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTC
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for BTC
- Addgene plasmids for BTC
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- genomics-online: cdna clones - Search results for 131 available Betacellulin gene related products
- Overview of 131 available Betacellulin gene related products
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- Applied Biological Materials Clones for BTC
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of BTC Gene:
BTCSOURCE 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
- Gall bladder(2.2)
- Pancreas(2.2)
Primer Products
-
OriGene qPCR primer pairs for BTC
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BTC 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LOC482682 33 |
|
||
| BTC 34 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Btc 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Btc 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BTC 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BTC 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100497610 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:153253 33 |
|
||
| btc 34 |
|
OneToOne |
- Species where no ortholog for BTC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Paralogs for BTC Gene
Variants for BTC Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000057924 | -- | 74,768,937(-) | A/C/G | 3_prime_UTR_variant, intron_variant | |
| rs10000837 | -- | 74,783,998(-) | C/T | intron_variant | |
| rs1000175724 | -- | 74,785,217(-) | G/A | intron_variant | |
| rs1000210775 | -- | 74,768,952(-) | C/A | 3_prime_UTR_variant, intron_variant | |
| rs1000267510 | -- | 74,774,869(-) | G/A/C | intron_variant |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTC Gene
Disorders for BTC Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cardiomyopathy, familial hypertrophic, 1 |
|
|
Search BTC in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BTC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
- 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 44 58
- 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 44 58
- 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 44 58
- 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 44 58
Products for BTC Gene
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- antibodies-online: Search results for 122 available Betacellulin Antibodies ranked by validation data
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- genomics-online: cdna clones - Search results for 131 available Betacellulin gene related products
- Overview of 131 available Betacellulin gene related products
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- Overview of 131 available Betacellulin gene related products
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- Overview of 131 available Betacellulin gene related products
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Sources for BTC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
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