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Aliases for BCR Gene

Aliases for BCR Gene

  • Breakpoint Cluster Region 2 3 5
  • Renal Carcinoma Antigen NY-REN-26 3 4
  • EC 2.7.11.1 4 63
  • D22S11 3 4
  • BCR1 3 4
  • BCR/FGFR1 Chimera Protein 3
  • FGFR1/BCR Chimera Protein 3
  • D22S662 3
  • ALL 3
  • CML 3
  • PHL 3

External Ids for BCR Gene

Previous HGNC Symbols for BCR Gene

  • D22S11
  • BCR1

Previous GeneCards Identifiers for BCR Gene

  • GC22P020221
  • GC22P021847
  • GC22P021822
  • GC22P023521
  • GC22P006461

Summaries for BCR Gene

Entrez Gene Summary for BCR Gene

  • A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for BCR Gene

BCR (Breakpoint Cluster Region) is a Protein Coding gene. Diseases associated with BCR include leukemia, chronic myeloid, somatic and leukemia, acute lymphoblastic. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include protein tyrosine kinase activity and enzyme binding. An important paralog of this gene is ABR.

UniProtKB/Swiss-Prot for BCR Gene

  • GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. Displays serine/threonine kinase activity.

Gene Wiki entry for BCR Gene

PharmGKB "VIP" Summary for BCR Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for BCR Gene

Genomics for BCR Gene

Regulatory Elements for BCR Gene

Promoters for BCR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCR on UCSC Golden Path with GeneCards custom track

Genomic Location for BCR Gene

Chromosome:
22
Start:
23,179,704 bp from pter
End:
23,318,037 bp from pter
Size:
138,334 bases
Orientation:
Plus strand

Genomic View for BCR Gene

Genes around BCR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BCR Gene

Proteins for BCR Gene

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

    Protein Symbol:
    P11274-BCR_HUMAN
    Recommended name:
    Breakpoint cluster region protein
    Protein Accession:
    P11274
    Secondary Accessions:
    • P78501
    • Q12842
    • Q4LE80
    • Q6NZI3

    Protein attributes for BCR Gene

    Size:
    1271 amino acids
    Molecular mass:
    142819 Da
    Quaternary structure:
    • Homotetramer. Interacts with PDZK1. May interact with CCPG1 (By similarity). Interacts with FES/FPS, ABL1, PIK3R1 and GRB2. Interacts with HCK. Interacts with SH2D5 (PubMed:25331951).
    SequenceCaution:
    • Sequence=BAE06073.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCR Gene

    Alternative splice isoforms for BCR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCR Gene

Proteomics data for BCR Gene at MOPED

Selected DME Specific Peptides for BCR Gene

Post-translational modifications for BCR Gene

  • Autophosphorylated. Phosphorylated by FES/FPS on tyrosine residues, leading to down-regulation of the BCR kinase activity. Phosphorylation at Tyr-177 by HCK is important for interaction with GRB2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCR Gene

Domains & Families for BCR Gene

Graphical View of Domain Structure for InterPro Entry

P11274

UniProtKB/Swiss-Prot:

BCR_HUMAN :
  • The region involved in binding to ABL1 SH2-domain is rich in serine residues and needs to be Ser/Thr phosphorylated prior to SH2 binding. This region is essential for the activation of the ABL1 tyrosine kinase and transforming potential of the chimeric BCR-ABL oncogene.
Domain:
  • The region involved in binding to ABL1 SH2-domain is rich in serine residues and needs to be Ser/Thr phosphorylated prior to SH2 binding. This region is essential for the activation of the ABL1 tyrosine kinase and transforming potential of the chimeric BCR-ABL oncogene.
  • The DH domain is involved in interaction with CCPG1.
  • Contains 1 C2 domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 Rho-GAP domain.
genes like me logo Genes that share domains with BCR: view

Function for BCR Gene

Molecular function for BCR Gene

GENATLAS Biochemistry:
breakpoint cluster region
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. Displays serine/threonine kinase activity.

Enzyme Numbers (IUBMB) for BCR Gene

Gene Ontology (GO) - Molecular Function for BCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA,TAS --
genes like me logo Genes that share ontologies with BCR: view
genes like me logo Genes that share phenotypes with BCR: view

Human Phenotype Ontology for BCR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCR Gene

MGI Knock Outs for BCR:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for BCR Gene

Localization for BCR Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCR Gene

Cell junction, synapse, postsynaptic cell membrane, postsynaptic density.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCR Gene COMPARTMENTS Subcellular localization image for BCR gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 4
nucleus 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0043234 protein complex IDA 23382219
genes like me logo Genes that share ontologies with BCR: view

Pathways & Interactions for BCR Gene

genes like me logo Genes that share pathways with BCR: view

SIGNOR curated interactions for BCR Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for BCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002692 negative regulation of cellular extravasation IEA --
GO:0006468 protein phosphorylation IEA,TAS 1657398
GO:0007165 signal transduction IEA,TAS 1657398
GO:0030036 actin cytoskeleton organization IEA --
GO:0030336 negative regulation of cell migration IEA --
genes like me logo Genes that share ontologies with BCR: view

Drugs & Compounds for BCR Gene

(39) Drugs for BCR Gene - From: Novoseek, HMDB, ApexBio, DGIdb, PharmGKB, DrugBank, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ponatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 29
Dasatinib Approved, Investigational Pharma Inhibition, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 268
imatinib Approved Pharma inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
bosutinib Approved Pharma Target, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors, Dual Src-Abl inhibitor; antiproliferative 0
Busulfan Approved, Investigational Pharma 506

(31) Additional Compounds for BCR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(8) ApexBio Compounds for BCR Gene

Compound Action Cas Number
Bafetinib (INNO-406) Bcr-Abl/Lyn tyrosine kinase inhibitor 887650-05-7
Bosutinib (SKI-606) Potent Abl/Src kinases 380843-75-4
DCC-2036 (Rebastinib) Bcr-Abl inhibitor 1020172-07-9
GNF 2 Bcr-Abl inhibitor 778270-11-4
GNF 5 Bcr-Abl inhibitor 778277-15-9
GZD824 Bcr-Abl inhibitor,novel orally bioavailable 1421783-64-3
Nilotinib(AMN-107) Bcr-Abl kinase inhibitor,selective 641571-10-0
PD173955 Dual Src/Abl kinase inhibitor, ATP-competitive, 260415-63-2
genes like me logo Genes that share compounds with BCR: view

Transcripts for BCR Gene

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16
SP1: -
SP2: - -
SP3: - -
SP4:
SP5: - -
SP6:

Relevant External Links for BCR Gene

GeneLoc Exon Structure for
BCR
ECgene alternative splicing isoforms for
BCR

Expression for BCR Gene

mRNA expression in normal human tissues for BCR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.7), Cervix (7.7), Placenta (7.2), and Frontal cortex (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCR Gene



SOURCE GeneReport for Unigene cluster for BCR Gene Hs.517461

genes like me logo Genes that share expression patterns with BCR: view

Protein tissue co-expression partners for BCR Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BCR Gene

Orthologs for BCR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCR Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia BCR 35
  • 90.57 (n)
  • 94.45 (a)
BCR 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcr 35
  • 89.17 (n)
  • 93.85 (a)
Bcr 16
Bcr 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BCR 35
  • 99.5 (n)
  • 99.75 (a)
BCR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcr 35
  • 88.07 (n)
  • 92.73 (a)
cow
(Bos Taurus)
Mammalia BCR 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCR 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCR 35
  • 77.73 (n)
  • 86.86 (a)
BCR 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCR 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcr 35
  • 70.43 (n)
  • 77.08 (a)
zebrafish
(Danio rerio)
Actinopterygii bcr 35
  • 72.07 (n)
  • 78.64 (a)
bcr 36
  • 74 (a)
OneToMany
BCR (1 of 2) 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP1A 37
  • 35 (a)
RhoGAP1A 36
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BEM2 36
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for BCR:
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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 BCR Gene

ENSEMBL:
Gene Tree for BCR (if available)
TreeFam:
Gene Tree for BCR (if available)

Paralogs for BCR Gene

Paralogs for BCR Gene

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

Variants for BCR Gene

Sequence variations from dbSNP and Humsavar for BCR Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs140504 - 23,285,182(+) CAAGA(A/G)TGACA reference, missense
VAR_031553 -
rs35812689 - 23,312,944(+) AGGCA(C/T)GCTGA reference, missense
VAR_041883 A bladder transitional cell carcinoma sample
rs56321828 - 23,182,199(+) CAGAT(C/G)TGGCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
dgv4900n71 CNV Gain 21882294
nsv521695 CNV Loss 19592680
nsv9876 CNV Gain+Loss 18304495
dgv749n67 CNV Loss 20364138
esv2724039 CNV Deletion 23290073
esv2665954 CNV Deletion 23128226
esv29702 CNV Loss 19812545
esv994062 CNV Gain 20482838
esv22663 CNV Gain 19812545
nsv914578 CNV Gain 21882294
dgv4903n71 CNV Gain 21882294
esv2724041 CNV Deletion 23290073

Variation tolerance for BCR Gene

Residual Variation Intolerance Score: 3.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCR Gene

HapMap Linkage Disequilibrium report
BCR
Human Gene Mutation Database (HGMD)
BCR

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

Disorders for BCR Gene

MalaCards: The human disease database

(30) MalaCards diseases for BCR Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, chronic myeloid, somatic
  • chronic myeloid leukemia
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
chronic myelocytic leukemia
  • cml
precursor b-cell acute lymphoblastic leukemia
  • b-all
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search BCR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCR_HUMAN
  • Leukemia, chronic myeloid (CML) [MIM:608232]: A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. {ECO:0000269 PubMed:2407300, ECO:0000269 PubMed:3107980, ECO:0000269 PubMed:3540951}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Note=A chromosomal aberration involving BCR has been found in patients with chronic myeloid leukemia. Translocation t(9;22)(q34;q11) with ABL1. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). {ECO:0000269 PubMed:3107980, ECO:0000269 PubMed:7665185}.

Relevant External Links for BCR

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

No data available for Genatlas for BCR Gene

Publications for BCR Gene

  1. The BCR gene encodes a novel serine/threonine kinase activity within a single exon. (PMID: 1657398) Maru Y. … Witte O.N. (Cell 1991) 2 3 4 23 67
  2. Transglutaminase 2 regulates the GTPase-activating activity of Bcr. (PMID: 19840940) Yi S.J. … Heisterkamp N. (J. Biol. Chem. 2009) 3 23
  3. Activity of the Bcr GTPase-activating domain is regulated through direct protein/protein interaction with the Rho guanine nucleotide dissociation inhibitor. (PMID: 18070886) Kweon S.M. … Heisterkamp N. (J. Biol. Chem. 2008) 2 3
  4. Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy. (PMID: 18406870) Richebourg S. … Roche-Lestienne C. (Cancer Genet. Cytogenet. 2008) 3 23
  5. Bcr interacts with components of the endosomal sorting complex required for transport-I and is required for epidermal growth factor receptor turnover. (PMID: 16778200) Olabisi O.O. … Whitehead I.P. (Cancer Res. 2006) 3 23

Products for BCR Gene

Sources for BCR Gene

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