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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute lymphoid leukemia Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLAST CRISIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 14697634, 7596189, 8035612, 9087564, 9648560
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 8207977
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10674911, 11734316, 1317490, 1391801, 1985699, 1993310, 2143795, 23171834, 2388480, 24310817, 24998463, 2569268, 2648256, 2678002, 2693843
View all (15 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10500826, 10615128, 10640143, 10803934, 11086180, 11369654, 11697484, 12447959, 1353550, 14993251, 15257703, 15315963, 15611260, 15716990, 15908956
View all (120 more)
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 12082639, 17394134, 19360458, 28971504, 8625269, 9393601
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 14551738, 23054652
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10611345, 10720132, 12827650, 12899711, 1312695, 1314166, 19100514, 21298367, 2218500, 28654205, 8095167, 9242550, 9815736
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 30413411, 30858955, 31817512, 7579412
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 31069142
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 14993251, 15282669, 15315963, 15611260, 15908956, 16213359, 1747460, 17485517, 19589926, 19759560, 19770381, 1993310, 20013897, 20930648, 21082971
View all (45 more)
★☆☆☆☆
Found in Text Mining only