Free for academic non-profit institutions. Other users need a Commercial license

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 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.

Gene Wiki entry for BTC Gene

Additional gene information for BTC Gene

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
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

Genomic Locations for BTC Gene

Genomic Locations for BTC Gene
49,928 bases
Minus strand
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

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

Suggested Antigen Peptide Sequences for BTC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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 IBA,TAS --
GO:0005515 protein binding IPI 19740107
GO:0008083 growth factor activity IBA --
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:
  • Btc Btc<tm1Dcl>

Animal Model Products

Clone Products

  • Addgene plasmids 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.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTC gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
mitochondrion 1
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 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

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
2 Apoptotic Pathways in Synovial Fibroblasts
3 Signaling by ERBB2
4 PI3K/AKT activation
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:0010469 regulation of signaling receptor activity IEA --
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 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

(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:

Clone Products

  • Addgene plasmids for BTC

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for BTC Gene

  • Gall bladder(2.2)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with BTC: view

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.

Orthologs for BTC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BTC 34 33
  • 99.25 (n)
(Bos Taurus)
Mammalia BTC 34 33
  • 89.14 (n)
(Canis familiaris)
Mammalia LOC482682 33
  • 85.56 (n)
BTC 34
  • 74 (a)
(Mus musculus)
Mammalia Btc 16 34 33
  • 78.53 (n)
(Rattus norvegicus)
Mammalia Btc 33
  • 78.53 (n)
(Ornithorhynchus anatinus)
Mammalia BTC 34
  • 55 (a)
(Gallus gallus)
Aves BTC 34 33
  • 60.28 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497610 33
  • 60.87 (n)
(Danio rerio)
Actinopterygii zgc:153253 33
  • 56.05 (n)
btc 34
  • 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)
Evolutionary constrained regions (ECRs) for BTC: view image

Paralogs for BTC Gene

Paralogs for BTC Gene

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

  • H0Y8Q5_HUMAN
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 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

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)

Additional Variant Information for BTC Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD and DISEASES

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 1
  • cmh1
- elite association - COSMIC cancer census association via MalaCards
Search BTC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BTC

Genetic Association Database
Human Genome Epidemiology 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 (Biochemical and biophysical research communications 1993) 2 3 4 22 58
  2. 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
  3. 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
  4. 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
  5. 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

Sources for BTC Gene

Loading form....