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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCR Gene

protein-coding   GIFtS: 70
GCID: GC22P023521

breakpoint cluster region


(Previous symbols: D22S11, BCR1)
 Explore 80 diseases affiliated with
BCR via our new
 Human Malady Compendium 
Biological research products
for BCR
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Breakpoint Cluster Region1 2     D22S6621 2
BCR11 2 3     Renal Carcinoma Antigen NY-REN-262 3
D22S111 2 3     EC 2.7.11.13 8
ALL1 2 5     BCR/FGFR1 Chimera Protein2
CML1 2 5     Breakpoint Cluster Region Protein2
PHL1 2 5     FGFR1/BCR Chimera Protein2

External Ids:    HGNC: 10141   Entrez Gene: 6132   Ensembl: ENSG000001867167   OMIM: 1514105   UniProtKB: P112743   

Export aliases for BCR gene to outside databases

Previous GC identifers: GC22P020221 GC22P021847 GC22P021822 GC22P006461


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCR:
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)

UniProtKB/Swiss-Prot: BCR_HUMAN, P11274
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

Gene Wiki entry for BCR (BCR gene)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCR gene promoter:
         AREB6   p53   HOXA5   HSF1short   HSF1 (long)   POU6F1 (c2)   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCR promoter sequence
   Search SABiosciences Chromatin IP Primers for BCR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.23   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11

BCR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCR gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P023521:  view genomic region     (about GC identifiers)

Start:
23,521,891 bp from pter      End:
23,660,224 bp from pter
Size:
138,334 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BCR_HUMAN, P11274 (See protein sequence)
Recommended Name: Breakpoint cluster region protein  
Size: 1271 amino acids; 142819 Da
Subunit: Homotetramer. Interacts with PDZK1. May interact with CCPG1 (By similarity). Interacts with FES/FPS, ABL1,
PIK3R1 and GRB2. Interacts with HCK
Sequence caution: Sequence=BAE06073.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for BCR:
1K1F (3D)        2AIN (3D)    
Secondary accessions: P78501 Q12842 Q4LE80 Q6NZI3
Alternative splicing: 2 isoforms:  P11274-1   P11274-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BCR: NX_P11274

Post-translational modifications:

  • 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 GRB21
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11274

  • 3 DME Specific Peptides for BCR (P11274)
     RLEQEVN  IRRLEQE  GLEMRKWV 

    BCR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_004318.3  NP_067585.2  

    ENSEMBL proteins: 
     ENSP00000303507   ENSP00000352535   ENSP00000396531   ENSP00000381524  
    Reactome Protein details: P11274
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    Uscn Proteins for BCR

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--


    BCR for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BCR for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR001331 GDS_CDC24_CS
     IPR015123 Bcr-Abl_oncoprot_oligo
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR000219 DH-domain
     IPR008936 Rho_GTPase_activation_prot

    Graphical View of Domain Structure for InterPro Entry P11274

    ProtoNet protein and cluster: P11274

    4 Blocks protein families:
    IPB000008 C2 domain
    IPB000198 RhoGAP domain
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: BCR_HUMAN, P11274
    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
    Domain: The DH domain is involved in interaction with CCPG1 (By similarity)
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rho-GAP domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BCR_HUMAN, P11274
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Genatlas biochemistry entry for BCR:
    breakpoint cluster region

    Enzyme Number (IUBMB): EC 2.7.11.11 2

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    8/52 QIAGEN miScript miRNA Assays for microRNAs that regulate BCR (see all 52):
    hsa-miR-640 hsa-miR-106a hsa-miR-15a hsa-miR-4272 hsa-miR-424 hsa-miR-93 hsa-miR-3148 hsa-miR-497*
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    Clone
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity TAS--
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005096GTPase activator activity TAS1903516
    GO:0005515protein binding IPI--


    BCR for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for BCR:
     Decreased circadian period len  Decreased substrate adherent c  Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-out Bcrtm1Hkp for BCR
         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bcr):
     behavior/neurological  cellular  digestive/alimentary  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     nervous system  renal/urinary system 

    BCR for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of RAC1 activity1.00
    G-protein signaling_Regulation of CDC42 activity0.25
    G-protein signaling_Regulation of RAC1 activity0.88
    G-protein signaling_Rac2 regulation pathway0.16
    G-protein signaling Regulation of CDC42 activity0.25
    G-protein signaling Rac2 regulation pathway0.16
    2G-protein signaling TC21 regulation pathway
    G-protein signaling TC21 regulation pathway1.00
    G-protein signaling_M-RAS regulation pathway0.71
    G-protein signaling_TC21 regulation pathway1.00
    G-protein signaling M-RAS regulation pathway0.71
    3Signaling by FGFR1 mutants
    Signaling by FGFR1 mutants1.00
    Signaling by FGFR1 fusion mutants0.63
    Signaling by FGFR mutants0.67
    FGFR1 fusion proteins recruit PIK3R10.37
    4G-protein signaling K-RAS regulation pathway
    G-protein signaling_H-RAS regulation pathway0.27
    G-protein signaling H-RAS regulation pathway0.27
    5Cell death signalling via NRAGE, NRIF and NADE
    Rho GTPase cycle0.25
    Signaling by Rho GTPases0.25

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/6 EMD Millipore Pathways for BCR (see all 6)
        G-protein signaling Regulation of CDC42 activity
    G-protein signaling Rac2 regulation pathway
    G-protein signaling M-RAS regulation pathway
    G-protein signaling TC21 regulation pathway
    G-protein signaling H-RAS regulation pathway


    1 Cell Signaling Technology (CST) Pathway for BCR
        Tyrosine Kinases / Adaptors

    5/6 GeneGo (Thomson Reuters) Pathways for BCR (see all 6)
        G-protein signaling Regulation of RAC1 activity
    G-protein signaling H-RAS regulation pathway
    G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway
    G-protein signaling Rac2 regulation pathway

    2 BioSystems Pathways for BCR 
        Regulation of RhoA activity
    Regulation of RAC1 activity

    5/9        Reactome Pathways for BCR (see all 9)
        Signaling by FGFR mutants
    Signaling by Rho GTPases
    Signal Transduction
    Signaling by FGFR1 fusion mutants
    Rho GTPase cycle

    1 PharmGKB Pathway for BCR
        Imatinib Pathway, Pharmacokinetics/Pharmacodynamics

    2         Kegg Pathways  (Kegg details for BCR):
        Pathways in cancer
    Chronic myeloid leukemia


    BCR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BCR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/133 Interacting proteins for BCR (P112741, 2, 3 ENSP000003035074) via UniProtKB, MINT, STRING, and/or I2D (see all 133)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629932, 3, ENSP000003390074MINT-8026563 MINT-8026477 MINT-8026578 MINT-8026593 MINT-8026462 MINT-8026548 MINT-8026507 MINT-8026492 MINT-8026533 I2D: score=5 STRING: ENSP00000339007
    CFTRP135692, 3, ENSP000000030844MINT-69537 I2D: score=2 STRING: ENSP00000003084
    ATP2B1P200202, 3, ENSP000002611734MINT-69534 I2D: score=1 STRING: ENSP00000261173
    GRAPQ135882, 3, ENSP000002841544MINT-8026518 I2D: score=1 STRING: ENSP00000284154
    RGS12O149242, 3, ENSP000003393814MINT-69542 I2D: score=1 STRING: ENSP00000339381
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation TAS1657398
    GO:0007165signal transduction TAS1657398
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007420brain development IEA--
    GO:0030036actin cytoskeleton organization IEA--


    BCR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BCR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCR

    3 HMDB Compounds for BCR    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    10/52 Novoseek chemical compound relationships for BCR gene (see all 52)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 80.9 439 8955135 (6), 10405761 (6), 9178913 (6), 7529874 (5) (see all 99)
    imatinib 80.5 43 12829585 (3), 14635084 (2), 17493325 (2), 18406870 (2) (see all 32)
    blys 63.9 9 17548587 (2), 14962189 (2), 12956429 (2), 18978795 (1) (see all 5)
    dasatinib 60.6 1 18956997 (1)
    inositol 49.7 15 10196207 (2), 9743328 (1), 10617650 (1), 15081531 (1) (see all 14)
    phosphatidylinositol 48.8 19 11823472 (2), 14555967 (1), 8805618 (1), 11345196 (1) (see all 14)
    phosphotyrosine 46.2 15 10442632 (4), 1712671 (2), 8912843 (1), 11809685 (1) (see all 7)
    inositol 1,4,5 trisphosphate 42.1 8 9565626 (2), 10327049 (1), 20224233 (1), 14558886 (1) (see all 7)
    bgl ii 34.8 2 8632666 (1), 11672777 (1)
    phosphoinositide 34.2 8 9139721 (1), 12077122 (1), 12524457 (1), 9252119 (1) (see all 8)

    2 PharmGKB related drug/compound annotations for BCR gene
    Drug/compound PharmGKB Annotation
    dasatinibDL  
    imatinibDL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about BCR 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BCR gene (2 alternative transcripts): 
    NM_004327.3  NM_021574.2  

    Unigene Clusters for BCR:

    Breakpoint cluster region
    Hs.517461  [show with all ESTs], Hs.715409
    Unigene Representative Sequences: NM_004327, BC071742
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479188 ENST00000305877(uc002zww.3 uc002zwx.3 uc011aiy.2)
    ENST00000359540(uc010gtx.1) ENST00000463770 ENST00000487679 ENST00000480973
    ENST00000427791 ENST00000487968(uc002zwy.2) ENST00000466076 ENST00000419722
    ENST00000471452 ENST00000478978 ENST00000475025 ENST00000436990 ENST00000458056
    ENST00000398512

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    hsa-miR-640 hsa-miR-106a hsa-miR-15a hsa-miR-4272 hsa-miR-424 hsa-miR-93 hsa-miR-3148 hsa-miR-497*
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    Inhib. RNA
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    Additional cDNA sequence: BC071742.1 

    24/37 DOTS entries (see all 37):

    DT.115766  DT.100826988  DT.86995909  DT.100826985  DT.102841720  DT.120677584  DT.95354641  DT.102841710 
    DT.120677784  DT.120676864  DT.100826990  DT.97836027  DT.92006114  DT.106787  DT.120677442  DT.100038569 
    DT.121201744  DT.91761972  DT.91761973  DT.92031691  DT.100826986  DT.120642698  DT.120677236  DT.120677378 

    24/127 AceView cDNA sequences (see all 127):

    CB144645 BC031568 BQ709937 BU196996 BQ691951 CR623143 AY536250 H55699 
    BQ422888 BX489609 AA371833 BE315159 BM454840 H55545 BE739832 BM910362 
    BF873836 H55543 H55528 BQ945725 BV198213 BQ227532 BE615094 BE267891 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BCR (see all 6)    About this scheme

    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:        -           -                                                                                                         


    ECgene alternative splicing isoforms for BCR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTAAAAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BCR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCR

    SOURCE GeneReport for Unigene clusters: Hs.517461 Hs.715409
        SABiosciences Expression via Pathway-Focused PCR Arrays including BCR: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Leukemia in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BCR gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BCR1 breakpoint cluster region 77.89(n)
    87.25(a)
      416952  XM_415244.3  XP_415244.3 
    lizard
    (Anolis carolinensis)
    Reptilia BCR6
    --
    79(a)
    1 ↔ 1
    GL343947.1(27833-38018)
    zebrafish
    (Danio rerio)
    Actinopterygii bcr1 breakpoint cluster region 72(n)
    78.98(a)
      568320  XM_002665937.1  XP_002665983.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP1A3 GTPase activator 35(a)   1A   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCR gene
    RACGAP12  SYDE22  ABR2  SYDE12  
    11 SIMAP similar genes for BCR using alignment to 13 protein entries:     BCR_HUMAN (see all proteins):
    BCR/ABL1 fusion    FLJ00077    BCR-ABL fusion    BCR/ABL fusion    BCR-ABL1    BCR-ABL1 e19a2
    FBXW4    ABR    ARHGAP12    CHN1    ARHGAP9

    BCR for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for BCR (see all 8)
    PGOHUM00000248620 PGOHUM00000246224 PGOHUM00000246249 PGOHUM00000259691 PGOHUM00000246290


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3138 NCBI SNPs in BCR are shown (see all 3138    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs773299231,2
    F,--6488407(+) ATCTCA/TGTTTC 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs622197621,2
    --6488536(+) CGCACC/TGCCCA 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs59964771,2
    F,--6488550(+) AGCCTA/GGAAAC 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs590527151,2
    --6488717(+) GTGGCC/G/TCACAG 2 -- us2k10--------
    rs563460091,2
    --6488767(+) AACAAA/GATCTT 2 -- us2k10--------
    rs738786591,2
    C,F,--6489052(+) GTATCC/TGCTCC 2 -- us2k12Minor allele frequency- T:0.50WA NA 4
    rs789010081,2
    C,F,--6489130(+) GAGGCA/GGATGT 2 -- us2k11Minor allele frequency- G:0.16WA 118
    rs768277341,2
    C,--6489174(+) AGAGG-/TTGGTC 2 -- us2k10--------
    rs60035401,2
    C,F,A,--6489402(+) TTGGCC/GGCCCC 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1116811091,2
    --6489428(+) ATCAGG/TGAAGT 2 -- us2k11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for BCR (23521891 - 23660224 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for BCR
         6 CNVs: 73778 31074 90955 79495 73777 32451
         1 Indel: 67851
    Human Gene Mutation Database (HGMD): BCR

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BCR for disorders           About GeneDecksing

    OMIM gene information: 151410   
    OMIM disorders: 608232  613065  
    UniProtKB/Swiss-Prot: BCR_HUMAN, P11274
  • Note=A chromosomal aberration involving BCR is a cause of 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)

    20/80 diseases for BCR (see all 80):    About MalaCards
    philadelphia-negative chronic myeloid leukemia    leukemia    splenic marginal zone lymphoma    xeroderma pigmentosum
    xeroderma pigmentosum, group b    renal carcinoma    diffuse large b-cell lymphoma    hypersensitivity reaction type ii disease
    central nervous system lymphoma    gastrointestinal stromal tumor    b-cell lymphomas    anaplastic large cell lymphoma
    pilomyxoid astrocytoma    myeloproliferative disorder    non-hodgkin lymphoma    myeloid leukemia
    carcinoma    polycythemia vera    chronic myeloid leukemia    lymphoblastic leukemia

    2 diseases from the University of Copenhagen DISEASES database for BCR:
    Leukemia     Bone marrow cancer

    10/63 Novoseek disease relationships for BCR gene (see all 63)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia chronic 91.4 161 12011769 (2), 2403827 (2), 7512367 (2), 2337672 (2) (see all 99)
    blast crisis 81.5 12 7683349 (3), 2337672 (3), 1961034 (1), 1427440 (1) (see all 8)
    leukemia 75.3 122 8435337 (4), 9341866 (3), 7513545 (2), 1961034 (2) (see all 94)
    philadelphia chromosome positive chronic myelogenous leukemia 70.8 1 17604501 (1)
    leukemia lymphocytic chronic 69.2 14 17928528 (1), 17003377 (1), 9369427 (1), 15057307 (1) (see all 14)
    lymphoblastic leukemia acute 69 26 2145450 (2), 1705008 (1), 8426467 (1), 11369654 (1) (see all 23)
    myeloproliferative disorders 67.9 9 8818385 (2), 19394693 (1), 19936007 (1), 10490629 (1) (see all 6)
    lymphocytic leukemia chronic b-cell 64.4 5 16616061 (1), 9049959 (1), 19074730 (1), 15591116 (1) (see all 5)
    burkitt lymphoma 59.4 12 10438726 (2), 11027651 (2), 9233773 (1), 9533441 (1) (see all 10)
    leukemia b-cell 56.1 1 19074730 (1)

    Genetic Association Database (GAD): BCR
    Human Genome Epidemiology (HuGE) Navigator: BCR (207 documents)
    Tumor Gene Database (TGDB): BCR

    Export disorders for BCR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BCR gene, integrated from 9 sources (see all 998):
    (articles sorted by number of sources associating them with BCR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The BCR gene encodes a novel serine/threonine kinase activity within a single exon. (PubMed id 1657398)1, 2, 3, 9 Maru Y. and Witte O.N. (1991)
    2. Characterization of the BCR promoter in Philadelphia chromosome- positive and -negative cell lines. (PubMed id 1900918)1, 2, 9 Shah N.P.... Denny C.T. (1991)
    3. Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. (PubMed id 7665185)1, 2, 9 Chissoe S.L.... Roe B.A. (1995)
    4. BCR sequences essential for transformation by the BCR-ABL oncogene bind to the ABL SH2 regulatory domain in a non-phosphotyrosine- dependent manner. (PubMed id 1712671)1, 2, 9 Pendergast A.M.... Witte O.N. (1991)
    5. Bcr (breakpoint cluster region) protein binds to PDZ-domains of scaffold protein PDZK1 and vesicle coat protein Mint3. (PubMed id 15494376)1, 2, 9 Malmberg E.K.... Riordan J.R. (2004)
    6. [Polymorphism analysis of 5' promotor region of BCR gene] (PubMed id 15248918)1, 4, 9 Tian H....Zhou S.Y. (2004)
    7. Bcr encodes a GTPase-activating protein for p21rac. (PubMed id 1903516)1, 2, 9 Diekmann D.... Hall A. (1991)
    8. Activity of the Bcr GTPase-activating domain is regul ated through direct protein/protein interaction with the Rho guanine nucleotide dissociation inhibitor. (PubMed id 18070886)1, 3 Kweon S.M....Heisterkamp N. (2008)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. [Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia] (PubMed id 15968309)1, 4 Zhu Y.L....Liu J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 613 HGNC: 1014 AceView: BCR Ensembl:ENSG00000186716 euGenes: HUgn613
    ECgene: BCR Kegg: 613 H-InvDB: BCR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCR Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BCR gene:
    Search GeneIP for patents involving BCR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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