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Aliases for BTC Gene

Aliases for BTC Gene

  • Betacellulin 2 3 5
  • Probetacellulin 3

External Ids for BTC Gene

Previous GeneCards Identifiers for BTC Gene

  • GC04M075557
  • GC04M075843
  • GC04M076062
  • GC04M076128
  • GC04M076129
  • GC04M076027
  • GC04M075889
  • GC04M075669
  • GC04M071418

Summaries for BTC Gene

Entrez Gene Summary 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 Cell Carcinoma, Head And Neck. Among its related pathways are RET signaling and Activation of cAMP-Dependent PKA. 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.

Gene Wiki entry for BTC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTC Gene

Genomics for BTC Gene

Regulatory Elements for BTC Gene

Enhancers for BTC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F074793 0.2 ENCODE 38.5 +0.5 508 1.6 CTCF MAX FEZF1 RAD21 YY1 HIC1 POLR2A PATZ1 SMC3 PRDM10 BTC ENSG00000249942
GH04F074796 0.9 FANTOM5 17.1 -1.6 -1622 0.4 BTC GC04P074814
GH04F074933 1.1 FANTOM5 ENCODE 6.3 -139.5 -139502 2.2 ZNF76 RAD21 GLIS2 EGR1 SCRT2 ZNF143 CREM SP3 REST ZFP69B BTC PARM1 LOC100507388
GH04F074768 0.5 ENCODE 4.6 +25.5 25522 0.7 JUN ZEB1 HIC1 ZFHX2 GATA3 NR2F6 FOS EGR2 TCF7L2 GATAD2A BTC ENSG00000249942
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BTC on UCSC Golden Path with GeneCards custom track

Promoters for BTC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001243086 386 1400 CTCF TEAD4 MAX FEZF1 RAD21 YY1 POLR2A PATZ1 SMC3 PRDM10

Genomic Location for BTC Gene

74,744,759 bp from pter
74,794,686 bp from pter
49,928 bases
Minus strand

Genomic View for BTC Gene

Genes around BTC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTC Gene

Proteins for BTC Gene

  • Protein details for BTC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q96F48

    Protein attributes for BTC Gene

    178 amino acids
    Molecular mass:
    19746 Da
    Quaternary structure:
    • Monomer. Interacts with EGFR and ERBB4.

    Three dimensional structures from OCA and Proteopedia for BTC Gene

neXtProt entry for BTC Gene

Post-translational modifications for BTC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BTC Gene

Antibody Products

  • R&D Systems Antibodies for BTC (Betacellulin/BTC)

No data available for DME Specific Peptides for BTC Gene

Domains & Families for BTC Gene

Protein Domains for BTC Gene

Suggested Antigen Peptide Sequences for BTC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 EGF-like domain.
  • Contains 1 EGF-like domain.
genes like me logo Genes that share domains with BTC: view

No data available for Gene Families for BTC Gene

Function for BTC Gene

Molecular function for BTC Gene

GENATLAS Biochemistry:
betacellulin,ECF family
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.

Gene Ontology (GO) - Molecular Function 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 IEA,TAS --
GO:0005515 protein binding IPI 19740107
GO:0008083 growth factor activity IEA,TAS --
genes like me logo Genes that share ontologies with BTC: view
genes like me logo Genes that share phenotypes with BTC: view

Animal Models for BTC Gene

MGI Knock Outs for BTC:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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.

Subcellular locations from

Jensen Localization Image for BTC Gene COMPARTMENTS Subcellular localization image for BTC gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for BTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with BTC: view

Pathways & Interactions for BTC Gene

SuperPathways for BTC Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 GAB1 signalosome
4 Signaling by ERBB2
5 GPCR Pathway
genes like me logo Genes that share pathways with BTC: view

SIGNOR curated interactions for BTC Gene


Gene Ontology (GO) - Biological Process for BTC Gene

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:0014066 regulation of phosphatidylinositol 3-kinase signaling TAS --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with BTC: view

Drugs & Compounds for BTC Gene

(19) Drugs for BTC Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cetuximab Approved Pharma EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 737
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2690
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1974
Lenvatinib Approved Pharma Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 60
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1412

(7) Additional Compounds for BTC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BTC: view

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 :

Unigene Clusters for BTC Gene

Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTC Gene

No ASD Table

Relevant External Links for BTC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BTC Gene

mRNA expression in normal human tissues for BTC Gene

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).

Protein differential expression in normal tissues from HIPED for BTC Gene

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:


SOURCE GeneReport for Unigene cluster for BTC Gene:


mRNA Expression by UniProt/SwissProt for BTC Gene:

Tissue specificity: Synthesized in several tissues and tumor cells. Predominantly expressed in pancreas and small intestine.
genes like me logo Genes that share expression patterns with BTC: view

Primer Products

No data available for Protein tissue co-expression partners for BTC Gene

Orthologs for BTC Gene

This gene was present in the common ancestor of chordates.

Orthologs for BTC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BTC 34 35
  • 99.25 (n)
(Bos Taurus)
Mammalia BTC 34 35
  • 89.14 (n)
(Canis familiaris)
Mammalia LOC482682 34
  • 85.56 (n)
BTC 35
  • 74 (a)
(Mus musculus)
Mammalia Btc 34 16 35
  • 78.53 (n)
(Rattus norvegicus)
Mammalia Btc 34
  • 78.53 (n)
(Ornithorhynchus anatinus)
Mammalia BTC 35
  • 55 (a)
(Gallus gallus)
Aves BTC 34 35
  • 60.28 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497610 34
  • 60.87 (n)
(Danio rerio)
Actinopterygii zgc:153253 34
  • 56.05 (n)
btc 35
  • 31 (a)
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

Gene Tree for BTC (if available)
Gene Tree for BTC (if available)

Paralogs for BTC Gene

Paralogs for BTC Gene

(1) SIMAP similar genes for BTC Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BTC: view

Variants for BTC Gene

Sequence variations from dbSNP and Humsavar for BTC Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10000837 -- 74,783,998(+) gaggc(C/T)gaggc intron-variant
rs10005089 -- 74,769,396(+) TTTTA(C/T)TGAAA intron-variant
rs10005235 -- 74,772,610(+) CTTCA(C/T)GGGCA intron-variant
rs10009647 -- 74,786,210(+) AGTGT(C/T)CTGAA intron-variant
rs10009741 -- 74,786,296(+) GTTCT(C/T)GCCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTC Gene

Variant ID Type Subtype PubMed ID
esv3601020 CNV loss 21293372
nsv1009099 CNV gain 25217958
nsv4390 CNV deletion 18451855
nsv7363 OTHER inversion 18451855

Variation tolerance for BTC Gene

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)

Relevant External Links for BTC Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTC Gene

Disorders for BTC Gene

MalaCards: The human disease database

(1) MalaCards diseases for BTC Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
squamous cell carcinoma, head and neck
  • squamous cell carcinoma, head and neck, somatic
- elite association - COSMIC cancer census association via MalaCards
Search BTC in MalaCards View complete list of genes associated with diseases

Relevant External Links for BTC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BTC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BTC Gene

Publications for BTC Gene

  1. Cloning and expression of cDNA encoding human betacellulin, a new member of the EGF family. (PMID: 8439318) Sasada R. … Igarashi K. (Biochem. Biophys. Res. Commun. 1993) 2 3 4 22 64
  2. Association of a polymorphism in the betacellulin gene with type 1 diabetes mellitus in two populations. (PMID: 16683131) Silver K.D. … Mitchell B.D. (J. Mol. Med. 2006) 3 22 46 64
  3. Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects. (PMID: 16869959) Elbein S.C. … Silver K.D. (BMC Med. Genet. 2006) 3 22 46 64
  4. Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients. (PMID: 15936459) Nakagawa T. … Nanjo K. (Diabetes Res. Clin. Pract. 2005) 3 22 46 64
  5. 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 46 64

Products for BTC Gene

Sources for BTC Gene

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