Gene Gene information from NCBI Gene database.
Entrez ID 613
Gene name BCR activator of RhoGEF and GTPase
Gene symbol BCR
Synonyms (NCBI Gene)
ALLBCR1CMLD22S11D22S662PHL
Chromosome 22
Chromosome location 22q11.23
Summary 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 trans
miRNA miRNA information provided by mirtarbase database.
126
miRTarBase ID miRNA Experiments Reference
MIRT048049 hsa-miR-197-3p CLASH 23622248
MIRT047744 hsa-miR-10a-5p CLASH 23622248
MIRT037631 hsa-miR-744-5p CLASH 23622248
MIRT037631 hsa-miR-744-5p CLASH 23622248
MIRT489914 hsa-miR-3141 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002692 Process Negative regulation of cellular extravasation IEA
GO:0003014 Process Renal system process IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity TAS 1657398
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
151410 1014 ENSG00000186716
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11274
Protein name Breakpoint cluster region protein (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-26)
Protein 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 intr
PDB 1K1F , 2AIN , 5N6R , 5N7E , 5OC7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09036 Bcr-Abl_Oligo 3 75 Bcr-Abl oncoprotein oligomerisation domain Domain
PF00621 RhoGEF 502 689 RhoGEF domain Domain
PF19057 PH_19 698 822 Domain
PF00168 C2 911 1017 C2 domain Domain
PF00620 RhoGAP 1068 1220 RhoGAP domain Domain
Sequence
MVDPVGFAEAWKAQFPDSEPPRMELRSVGDIEQELERCKASIRRLEQEVNQERFRMIYLQ
TLLAKEKKSYDRQRW
GFRRAAQAPDGASEPRASASRPQPAPADGADPPPAEEPEARPDGE
GSPGKARPGTARRPGAAASGERDDRGPPASVAALRSNFERIRKGHGQPGADAEKPFYVNV
EFHHERGLVKVNDKEVSDRISSLGSQAMQMERKKSQHGAGSSVGDASRPPYRGRSSESSC
GVDGDYEDAELNPRFLKDNLIDANGGSRPPWPPLEYQPYQSIYVGGMMEGEGKGPLLRSQ
STSEQEKRLTWPRRSYSPRSFEDCGGGYTPDCSSNENLTSSEEDFSSGQSSRVSPSPTTY
RMFRDKSRSPSQNSQQSFDSSSPPTPQCHKRHRHCPVVVSEATIVGVRKTGQIWPNDGEG
AFHGDADGSFGTPPGYGCAADRAEEQRRHQDGLPYIDDSPSSSPHLSSKGRGSRDALVSG
ALESTKASELDLEKGLEMRKWVLSGILASEETYLSHLEALLLPMKPLKAAATTSQPVLTS
QQIETIFFKVPELYEIHKEFYDGLFPRVQQWSHQQRVGDLFQKLASQLGVYRAFVDNYGV
AMEMAEKCCQANAQFAEISENLRARSNKDAKDPTTKNSLETLLYKPVDRVTRSTLVLHDL
LKHTPASHPDHPLLQDALRISQNFLSSIN
EEITPRRQSMTVKKGEHRQLLKDSFMVELVE
GARKLRHVFLFTDLLLCTKLKKQSGGKTQQYDCKWYIPLTDLSFQMVDELEAVPNIPLVP
DEELDALKIKISQIKNDIQREKRANKGSKATERLKKKLSEQE
SLLLLMSPSMAFRVHSRN
GKSYTFLISSDYERAEWRENIREQQKKCFRSFSLTSVELQMLTNSCVKLQTVHSIPLTIN
KEDDESPGLYGFLNVIVHSATGFKQSSNLYCTLEVDSFGYFVNKAKTRVYRDTAEPNWNE
EFEIELEGSQTLRILCYEKCYNKTKIPKEDGESTDRLMGKGQVQLDPQALQDRDWQR
TVI
AMNGIEVKLSVKFNSREFSLKRMPSRKQTGVFGVKIAVVTKRERSKVPYIVRQCVEEIER
RGMEEVGIYRVSGVATDIQALKAAFDVNNKDVSVMMSEMDVNAIAGTLKLYFRELPEPLF
TDEFYPNFAEGIALSDPVAKESCMLNLLLSLPEANLLTFLFLLDHLKRVAEKEAVNKMSL
HNLATVFGPTLLRPSEKESK
LPANPSQPITMTDSWSLEVMSQVQVLLYFLQLEAIPAPDS
KRQSILFSTEV
Sequence length 1271
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pathways in cancer
Chronic myeloid leukemia
  Signaling by cytosolic FGFR1 fusion mutants
Rho GTPase cycle
Signaling by FGFR1 in disease
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute lymphoid leukemia Uncertain significance; Benign; Likely benign rs1441856766, rs775817981, rs1259370853, rs147507158 RCV003224391
RCV003224429
RCV003224390
RCV002503008
Cervical cancer Benign rs201747848 RCV005902412
Chronic myelogenous leukemia, BCR-ABL1 positive Uncertain significance; not provided; Benign; Likely benign rs372013175, rs752530462, rs527236142, rs527236143, rs1441856766, rs775817981, rs1259370853, rs147507158 RCV001732212
RCV000171137
RCV000171138
RCV000171139
RCV003224391
RCV003224429
RCV003224390
RCV002503008
Familial cancer of breast Benign rs201747848 RCV005902411
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Stimulate 19563513
Abnormalities Multiple Associate 36947335
Acute Disease Associate 8642285
Agammaglobulinemia Associate 21693761
Agnosia Associate 2157692, 3495303
Agranulocytosis Associate 36912524
Alzheimer Disease Associate 31666081
Anemia Sickle Cell Associate 34625105
Arthritis Rheumatoid Associate 28850672, 29628928, 31882654
Autoimmune Diseases Associate 31616406