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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
External Ids for BCR Gene
- HGNC: 1014
- NCBI Entrez Gene: 613
- Ensembl: ENSG00000186716
- OMIM®: 151410
- UniProtKB/Swiss-Prot: P11274
Previous HGNC Symbols for BCR Gene
- D22S11
- BCR1
Previous GeneCards Identifiers for BCR Gene
- GC22P020221
- GC22P021847
- GC22P021822
- GC22P023521
- GC22P006461
Summaries 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).
Additional gene information 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
- 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
Genomic View for BCR Gene
Genes around BCR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.23 by HGNC
- 22q11.23 by Entrez Gene
- 22q11.23 by Ensembl
BCR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- BioLegend Pre-BCR Antibody
- Novus Biologicals Antibodies for BCR
-
Abcam antibodies for BCR
- Invitrogen Antibodies for BCR (AFLGC-Bcr)
- antibodies-online: Show 141 available BCR Antibodies ranked by validation data
- Compare Top BCR Antibodies
-
Recommended
- 136 WB Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 21 IHC (p) Antibodies (anti-human)
- 13 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 PLA Antibody (anti-human)
- 1 RIA Antibody (anti-human)
- 91 WB Antibodies (anti-mouse)
- 36 IF (p) Antibodies (anti-mouse)
- 11 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 36 IF (p) Antibodies (anti-rat)
- 25 WB Antibodies (anti-rat)
- 5 IHC Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Boster Bio Antibodies for BCR
-
Santa Cruz Biotechnology (SCBT) Antibodies for BCR
Protein products for research
-
OriGene Purified Proteins for BCR
- Search Origene for MassSpec and Protein Over-expression Lysates for BCR
- Origene Custom Protein Services for BCR
- antibodies-online: Show 11 available BCR Proteins ranked by validation data
- Compare Top BCR Proteins
-
Abcam proteins for BCR
Assay products for research
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
- InterPro:
- Blocks:
-
- RhoGAP domain
- C2 domain
- Pleckstrin-like
- DH domain
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
P11274UniProtKB/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.
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
| 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 |
Phenotypes for BCR Gene
- MGI mutant phenotypes for BCR:
-
inferred from 2 alleles
- normal phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- hearing/vestibular/ear phenotype
- GenomeRNAi human phenotypes for BCR:
-
- Strongly decreased CFP-tsO45G cell surface transport
- Increased vaccinia virus (VACV) infection
- Increased epidermal growth factor (EGF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased viability
- shRNA abundance <= 25%
- no effect
- Increased cell death HMECs cells
- Increased shRNA abundance (Z-score > 2)
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased shRNA abundance (Z-score < -2)
- Decreased Tat-dependent HIV-LTR-beta-galactosidase protein expression
- Decreased cell migration
- Decreased circadian period length
- Transferrin accumulation in small spots in the cell periphery
- Decreased substrate adherent cell growth
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
Animal Models for BCR Gene
- MGI Knock Outs for BCR:
-
- Bcr Bcr<tm1Hkp>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BCR - Starting at $85 >
- * BCR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BCR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCR
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCR
miRNA for BCR Gene
- miRTarBase miRNAs that target BCR
-
- hsa-miR-744-5p (MIRT037631)
- hsa-miR-10a-5p (MIRT047744)
- hsa-miR-197-3p (MIRT048049)
- hsa-miR-6781-5p (MIRT489907)
- hsa-miR-6877-5p (MIRT489908)
- hsa-miR-4743-5p (MIRT489909)
- hsa-miR-3202 (MIRT489910)
- hsa-miR-6853-5p (MIRT489911)
- hsa-miR-4768-3p (MIRT489912)
- hsa-miR-6125 (MIRT489913)
- hsa-miR-3141 (MIRT489914)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCR
- Browse OriGene Inhibitory RNA Products For BCR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCR
Clone products for research
- Applied Biological Materials (abm): Clones for BCR - Starting at $45 >
- * BCR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BCR
- Addgene plasmids for BCR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCR
Cell Lines for research
-
Horizon Cell Lines 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.
| 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 |
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
| 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 | -- |
Pathways & Interactions for BCR Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics | ||
| 2 | FGFR1 mutant receptor activation | ||
| 3 | HIV Life Cycle |
.45
|
|
| 4 | G-protein signaling M-RAS regulation pathway |
G-protein signaling M-RAS regulation pathway
.71
|
G-protein signaling TC21 regulation pathway
.71
|
| 5 | Tyrosine Kinases / Adaptors | ||
Pathways by source for BCR Gene
2 BioSystems pathways for BCR Gene
9 Reactome pathways 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
Interacting Proteins for BCR Gene
Selected Interacting proteins:
P11274-BCR_HUMAN
ENSP00000303507
for BCR Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BCR
SIGNOR curated interactions 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 |
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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
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 |
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 :
-
- ENST00000305877 6783 nts (view in UCSC)
- ENST00000359540 4708 nts (view in UCSC)
- ENST00000419722 788 nts (view in UCSC)
- ENST00000427791 771 nts (view in UCSC)
- ENST00000436990 4188 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BCR - Starting at $85 >
- * BCR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BCR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCR
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCR
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCR
- Browse OriGene Inhibitory RNA Products For BCR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCR
Clone products for research
- Applied Biological Materials (abm): Clones for BCR - Starting at $45 >
- * BCR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BCR
- Addgene plasmids for BCR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCR
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Dermis (Integumentary System)
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Dorsal Dermis
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCR
SOURCE GeneReport for Unigene cluster for BCR Gene:
Hs.517461Evidence 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
Primer products for research
-
OriGene qPCR primer pairs for BCR
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BCR 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BCR 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BCR 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bcr 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bcr 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BCR 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BCR 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BCR 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcr 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | bcr 29 30 |
|
OneToMany | |
| BCR (1 of 2) 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGAP1A 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BEM2 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
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
(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
Pseudogenes.org Pseudogenes for BCR Gene
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukemia, chronic myeloid |
|
|
| chromosome 8p11 myeloproliferative syndrome |
|
|
| leukemia, acute lymphoblastic 3 |
|
|
| precursor t-cell acute lymphoblastic leukemia |
|
|
| chromosome 22q11.2 deletion syndrome, distal |
|
|
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
No data available for Genatlas for BCR Gene
Publications for BCR Gene
- 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
- 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
- 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
- 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
- Bcr encodes a GTPase-activating protein for p21rac. (PMID: 1903516) Diekmann D … Hall A (Nature 1991) 3 4 22
ExternalLinks
Products for BCR Gene
- Custom Antibody ServicesOriGene Antibodies for BCR
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for BCR
- Search Origene for MassSpec and Protein Over-expression Lysates for BCR
- Origene Custom Protein Services for BCR
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCR
- Browse OriGene Inhibitory RNA Products For BCR
- OriGene qPCR primer pairs for BCR
- OriGene CRISPR knockouts for BCR
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BCR
- Sino Biological Human cDNA Clone for BCR
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for BCR
- Novus Biologicals proteins and lysates for BCR
- Browse Antibodies
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- Invitrogen Antibodies for BCR (AFLGC-Bcr)
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- VectorBuilder Custom and pre-made DNA vectors for BCR (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for BCR (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for BCR (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for BCR CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BCR
- Addgene plasmids for BCR
- antibodies-online: Show 141 available BCR Antibodies ranked by validation data
- Compare Top BCR Antibodies
- Recommended
- 136 WB Antibodies (anti-human)
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- 13 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
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- 91 WB Antibodies (anti-mouse)
- 36 IF (p) Antibodies (anti-mouse)
- 11 IHC Antibodies (anti-mouse)
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- 36 IF (p) Antibodies (anti-rat)
- 25 WB Antibodies (anti-rat)
- 5 IHC Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Show 12 available BCR Elisa Kits ranked by validation data
- Compare Top BCR Elisa Kits
- antibodies-online: Show 11 available BCR Proteins ranked by validation data
- Compare Top BCR Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for BCR
- Search Santa Cruz Biotechnology (SCBT) for BCR siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BCR
- Horizon Cell Lines for BCR
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCR
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BCR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCR
- Boster Bio Antibodies for BCR
Sources for BCR Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
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- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
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- (58) Sino Biological
- (59) GenScript
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- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
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- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
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- (87) antibodies-online
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- (96) ProteomicsDB
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- (98) DGIdb
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- (102) diseasecard
- (103) NIH Rare Diseases
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- (136) Monarch Initiative
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- (140) EPDnew
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- (176) Alliance of Genome Resources