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 breakpoin... See more...

Aliases for BCR Gene

Aliases for BCR Gene

  • BCR Activator Of RhoGEF And GTPase 2 3 5
  • BCR, RhoGEF And GTPase Activating Protein 2 3
  • Breakpoint Cluster Region Protein 3 4
  • Renal Carcinoma Antigen NY-REN-26 3 4
  • Breakpoint Cluster Region 2 3
  • EC 2.7.11.1 4 50
  • D22S662 2 3
  • D22S11 3 4
  • BCR1 3 4
  • ALL 2 3
  • CML 2 3
  • PHL 2 3
  • BCR/FGFR1 Chimera Protein 3
  • FGFR1/BCR Chimera Protein 3
  • BCR 5

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 unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]

GeneCards Summary for BCR Gene

BCR (BCR Activator Of RhoGEF And GTPase) is a Protein Coding gene. Diseases associated with BCR include Leukemia, Chronic Myeloid and Chromosome 8P11 Myeloproliferative Syndrome. Among its related pathways are G-protein signaling M-RAS regulation pathway and p75 NTR receptor-mediated signalling. Gene Ontology (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 Summary for BCR Gene

  • Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:1903516, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768, PubMed:23940119). The amino terminus contains an intrinsic kinase activity (PubMed:1657398). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity (PubMed:17116687). Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation (PubMed:23940119).

Gene Wiki entry for BCR Gene

PharmGKB "VIP" Summary for BCR Gene

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for BCR Gene

Genomics for BCR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BCR 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
GH22J023178 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 262.1 +3.9 3941 10.5 BCLAF1 ZNF207 ZNF654 ZNF600 ZSCAN16 ZIC2 CTCF ZNF592 TRIM22 FEZF1 BCR RSPH14 NONHSAG033459.2-001 RAB36 IGLV5-52 RN7SL268P IGLV1-40 BCRP8 HSALNG0134382 lnc-RSPH14-2
GH22J023304 Promoter/Enhancer 1.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 25.5 +126.4 126371 3.8 RBM22 ZNF189 JUND ZNF362 GLIS1 BHLHE40 REST SP1 NR2F2 FOS HSALNG0134387 BCR RSPH14 RAB36 HSALNG0134386 IGLL1
GH22J023144 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 -33.3 -33290 3.9 SP1 ZNF600 CEBPA ATF3 ZIC2 ZBTB10 YY1 ZNF217 CTCF SIN3A RAB36 BCR RSPH14 GNAZ HSALNG0134375
GH22J023315 Enhancer 0.8 Ensembl ENCODE 24.7 +136.6 136556 1.5 ZNF654 CTCF REST TRIM22 KLF9 RAD21 SMC3 RB1 ZEB2 ZNF660 lnc-RAB36-6 piR-53206-006 BCR POM121L11P lnc-RSPH14-5 RSPH14 IGLL1
GH22J023307 Enhancer 0.5 Ensembl dbSUPER 23.9 +130.4 130397 3.4 ZIC2 NR2F2 piR-55157-004 piR-50721-002 BCR RSPH14 RAB36 HSALNG0134387 IGLL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCR

Top Transcription factor binding sites by QIAGEN in the BCR gene promoter:
  • AREB6
  • HOXA5
  • HSF1 (long)
  • HSF1short
  • NF-kappaB1
  • p53
  • POU6F1 (c2)

Genomic Locations for BCR Gene

Latest Assembly
chr22:23,179,704-23,318,037
(GRCh38/hg38)
Size:
138,334 bases
Orientation:
Plus strand

Previous Assembly
chr22:23,522,696-23,660,224
(GRCh37/hg19 by Entrez Gene)
Size:
137,529 bases
Orientation:
Plus strand

chr22:23,521,891-23,660,224
(GRCh37/hg19 by Ensembl)
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 (PubMed:15494376). May interact with CCPG1 (By similarity). Interacts with FES/FPS, ABL1, PIK3R1 and GRB2 (PubMed:15302586, PubMed:1712671, PubMed:9407116). Interacts with HCK (PubMed:9407116). Interacts with SH2D5 (PubMed:25331951). Interacts with DLG4 (PubMed:20962234).
    SequenceCaution:
    • Sequence=BAE06073.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Selected DME Specific Peptides for BCR Gene

P11274:
  • IRRLEQE
  • GLEMRKWV
  • RLEQEVN

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

Antibodies for research

  • Abcam antibodies for BCR

Domains & Families for BCR Gene

Gene Families for BCR Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for BCR Gene

Suggested Antigen Peptide Sequences for BCR Gene

GenScript: Design optimal peptide antigens:
  • Renal carcinoma antigen NY-REN-26 (BCR_HUMAN)
  • Breakpoint cluster region protein (Q12843_HUMAN)
  • Breakpoint cluster region protein (Q12844_HUMAN)
  • BCR protein (Q5XJ20_HUMAN)
  • Breakpoint cluster region protein (Q6QJE3_HUMAN)

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.
  • The amino terminus contains an intrinsic kinase activity. The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form. The C-terminus is a Rho-GAP domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. The protein has a unique structure having two opposing regulatory activities toward small GTP-binding proteins.
genes like me logo Genes that share domains with BCR: view

Function for BCR Gene

Molecular function for BCR Gene

UniProtKB/Swiss-Prot Function:
Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:1903516, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768, PubMed:23940119). The amino terminus contains an intrinsic kinase activity (PubMed:1657398). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity (PubMed:17116687). Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation (PubMed:23940119).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:1657398};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:1657398};.
GENATLAS Biochemistry:
breakpoint cluster region

Enzyme Numbers (IUBMB) for BCR Gene

Phenotypes From GWAS Catalog for BCR Gene

Gene Ontology (GO) - Molecular Function for BCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004674 protein serine/threonine kinase activity TAS 1657398
GO:0005085 guanyl-nucleotide exchange factor activity IEA,IMP 23940119
GO:0005096 GTPase activator activity IEA,IDA 1903516
GO:0005515 protein binding IPI 8112292
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:
  • Bcr Bcr<tm1Hkp>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCR

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 density. Cell projection, dendritic spine. Cell projection, axon. Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
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 BCR gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
nucleus 3
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IBA 21873635
GO:0030054 cell junction IEA --
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

Pathways by source for BCR Gene

2 KEGG pathways for BCR Gene
6 GeneGo (Thomson Reuters) pathways for BCR Gene
  • G-protein signaling M-RAS regulation pathway
  • G-protein signaling TC21 regulation pathway
  • G-protein signaling_H-RAS regulation pathway
  • G-protein signaling_Rac2 regulation pathway
  • G-protein signaling_Regulation of CDC42 activity
1 Cell Signaling Technology pathway for BCR Gene

SIGNOR curated interactions for BCR Gene

Inactivates:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for BCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation TAS 1657398
GO:0007165 signal transduction TAS 1657398
GO:0007264 small GTPase mediated signal transduction IMP 23940119
GO:0016310 phosphorylation IEA --
GO:0030216 keratinocyte differentiation IMP 23940119
genes like me logo Genes that share ontologies with BCR: view

Drugs & Compounds for BCR Gene

(55) Drugs for BCR Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Target, Inhibition, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 334
imatinib Approved Pharma Target, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Ponatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 67
bosutinib Approved Pharma Target, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Busulfan Approved, Investigational Pharma 636

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(14) ApexBio Compounds for BCR Gene

Compound Action Cas Number
Adaphostin P210bcr/abl tyrosine kinase inhibitor 241127-58-2
Bafetinib (INNO-406) Bcr-Abl/Lyn tyrosine kinase inhibitor 887650-05-7
Bosutinib (SKI-606) Potent Abl/Src kinases 380843-75-4
Dasatinib (BMS-354825) Src and BCR-Abl inhibitor 302962-49-8
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
GNF-7 839706-07-9
GZD824 Bcr-Abl inhibitor,novel orally bioavailable 1421783-64-3
Nilotinib monohydrochloride monohydrate 923288-90-8
Nilotinib(AMN-107) Bcr-Abl kinase inhibitor,selective 641571-10-0
PD 180970 P210bcr/abl tyrosine kinase inhibitor 287204-45-9
PD173955 Dual Src/Abl kinase inhibitor, ATP-competitive, 260415-63-2
Ponatinib (AP24534) pan-BCR-ABL inhibitor,multi-kinase inhibitor 943319-70-8
genes like me logo Genes that share compounds with BCR: view

Drug products for research

Transcripts for BCR Gene

mRNA/cDNA for BCR Gene

2 REFSEQ mRNAs :
44 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCR

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

Expression for BCR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for BCR Gene



Protein tissue co-expression partners for BCR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCR

SOURCE GeneReport for Unigene cluster for BCR Gene:

Hs.517461

Evidence on tissue expression from TISSUES for BCR Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Liver(4.4)
  • Skin(3)
  • Bone marrow(3)
  • Lung(2.5)
  • Kidney(2.3)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Intestine(2.1)
  • Pancreas(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • heart
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BCR: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia BCR 29 30
  • 99.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BCR 30
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BCR 29 30
  • 90.57 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bcr 29 16 30
  • 89.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bcr 29
  • 88.07 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia BCR 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BCR 29 30
  • 77.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BCR 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bcr 29
  • 70.43 (n)
Zebrafish
(Danio rerio)
Actinopterygii bcr 29 30
  • 72.07 (n)
OneToMany
BCR (1 of 2) 30
  • 72 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGAP1A 30 31
  • 22 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BEM2 30
  • 11 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Species where no ortholog for BCR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BCR: view image
Alliance of Genome Resources:
Additional Orthologs for BCR

Paralogs for BCR Gene

Paralogs for BCR Gene

(11) SIMAP similar genes for BCR Gene using alignment to 13 proteins:

  • BCR_HUMAN
  • H0Y554_HUMAN
  • Q12843_HUMAN
  • Q12844_HUMAN
  • Q12845_HUMAN
  • Q5XJ20_HUMAN
  • Q6QJE3_HUMAN
  • Q6QJE4_HUMAN
  • Q6QJE5_HUMAN
  • Q6QJE6_HUMAN
  • Q6QJE7_HUMAN
  • Q6QJE8_HUMAN
  • Q6QJE9_HUMAN
genes like me logo Genes that share paralogs with BCR: view

Variants for BCR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCR Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs112539379 Benign: not provided 23,181,122(+) C/T
NM_004327.4(BCR):c.162C>T (p.Phe54=)
SYNONYMOUS
rs11558694 Benign: not provided 23,309,432(+) G/A
NM_004327.4(BCR):c.3021G>A (p.Pro1007=)
SYNONYMOUS
rs1220804617 Likely Benign: not provided 23,181,947(+) C/T
NM_004327.4(BCR):c.987C>T (p.Thr329=)
SYNONYMOUS
rs1259370853 Uncertain Significance: not provided 23,285,151(+) G/A
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr)
MISSENSE
rs1301518214 Likely Benign: not provided 23,181,176(+) G/T
NM_004327.4(BCR):c.216G>T (p.Arg72=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1296e212 CNV loss 25503493
dgv1297e212 CNV loss 25503493
dgv2444n106 CNV deletion 24896259
dgv749n67 CNV loss 20364138
esv22663 CNV gain 19812545
esv2665954 CNV deletion 23128226
esv2724041 CNV deletion 23290073
esv2762117 CNV gain 21179565
esv29702 CNV loss 19812545
esv3038234 CNV deletion 24192839
esv3557969 CNV deletion 23714750
esv3568293 CNV loss 25503493
esv3568295 CNV loss 25503493
esv3647392 CNV gain 21293372
esv3647395 CNV gain 21293372
esv3647396 CNV loss 21293372
esv3893457 CNV gain 25118596
esv994062 CNV gain 20482838
nsv1059951 CNV gain 25217958
nsv1061433 CNV gain+loss 25217958
nsv1066891 CNV gain 25217958
nsv1131654 CNV deletion 24896259
nsv1139049 CNV deletion 24896259
nsv1152903 CNV deletion 26484159
nsv521695 CNV loss 19592680
nsv588512 CNV loss 21841781
nsv588598 CNV loss 21841781
nsv588599 CNV loss 21841781
nsv588600 CNV loss 21841781
nsv588601 CNV gain 21841781
nsv7350 OTHER inversion 18451855
nsv964602 CNV duplication 23825009
nsv979654 CNV duplication 23825009
nsv9876 CNV gain+loss 18304495

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)

Additional Variant Information for BCR Gene

Human Gene Mutation Database (HGMD)
BCR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCR
Leiden Open Variation Database (LOVD)
BCR

SNP Genotyping and Copy Number Assays for research

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

Disorders for BCR Gene

MalaCards: The human disease database

(29) MalaCards diseases for BCR Gene - From: OMI, CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
leukemia, chronic myeloid
  • cml
chromosome 8p11 myeloproliferative syndrome
  • stem cell leukemia/lymphoma; scll
leukemia, acute lymphoblastic 3
  • leukemia, acute lymphoblastic, susceptibility to, 3
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
chromosome 22q11.2 deletion syndrome, distal
  • distal chromosome 22q11.2 deletion syndrome
- 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}.

Additional Disease Information for BCR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 ON (Cell 1991) 2 3 4 22
  2. Bcr (breakpoint cluster region) protein binds to PDZ-domains of scaffold protein PDZK1 and vesicle coat protein Mint3. (PMID: 15494376) Malmberg EK … Riordan JR (Journal of cell science 2004) 3 4 22
  3. Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. (PMID: 7665185) Chissoe SL … Jian L (Genomics 1995) 3 4 22
  4. Abr and Bcr are multifunctional regulators of the Rho GTP-binding protein family. (PMID: 7479768) Chuang TH … Bokoch GM (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22
  5. Bcr encodes a GTPase-activating protein for p21rac. (PMID: 1903516) Diekmann D … Hall A (Nature 1991) 3 4 22

Products for BCR Gene

  • Addgene plasmids for BCR

Sources for BCR Gene