Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
613
Gene name Gene Name - the full gene name approved by the HGNC.
BCR activator of RhoGEF and GTPase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCR
Synonyms (NCBI Gene) Gene synonyms aliases
ALL, BCR1, CML, D22S11, D22S662, PHL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALL, CML
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.23
Summary Summary of gene provided in NCBI Entrez 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 trans
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004674 Function Protein serine/threonine kinase activity TAS 1657398
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 7479768
GO:0005085 Function Guanyl-nucleotide exchange factor activity IMP 23940119
GO:0005096 Function GTPase activator activity IDA 1903516, 7479768
GO:0005515 Function Protein binding IPI 8112292, 8955135, 8995379, 9174058, 9178913, 10887132, 16169070, 20962234, 21706016, 22153077, 25241761, 25331951, 28514442
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
151410 1014 ENSG00000186716
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Burkitt`s lymphoma Burkitt Lymphoma rs28933407, rs121918683, rs121918684 23491079
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder, Unipolar Depression, Major Depressive Disorder 15866548 ClinVar
Coenzyme Q10 Deficiency Coenzyme Q10 Deficiency GWAS
Associations from Text Mining
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