ENSG00000186716


Homo sapiens

Features
Gene ID: ENSG00000186716
  
Biological name :BCR
  
Synonyms : BCR / BCR, RhoGEF and GTPase activating protein / P11274
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q11.23
Gene start: 23179704
Gene end: 23318037
  
Corresponding Affymetrix probe sets: 202315_s_at (Human Genome U133 Plus 2.0 Array)   217223_s_at (Human Genome U133 Plus 2.0 Array)   226602_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000352535
Ensembl peptide - ENSP00000303507
Ensembl peptide - ENSP00000396531
NCBI entrez gene - 613     See in Manteia.
OMIM - 151410
RefSeq - NM_021574
RefSeq - NM_004327
RefSeq Peptide - NP_004318
RefSeq Peptide - NP_067585
swissprot - P11274
swissprot - H0Y554
Ensembl - ENSG00000186716
  
Related genetic diseases (OMIM): 608232 - Leukemia, chronic myeloid, somatic, 608232
  613065 - Leukemia, acute lymphocytic, somatic, 613065
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bcrENSDARG00000079286Danio rerio
 si:dkey-91m11.5ENSDARG00000042329Danio rerio
 BCRENSGALG00000006695Gallus gallus
 BcrENSMUSG00000009681Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ABR / Q12979 / active BCR-relatedENSG0000015984246
Q5T5U3 / ARHGAP21 / Rho GTPase activating protein 21ENSG0000010786315
Q9P227 / ARHGAP23 / Rho GTPase activating protein 23ENSG0000027583214
Q6ZUM4 / ARHGAP27 / Rho GTPase activating protein 27ENSG0000015931413
Q8IWW6 / ARHGAP12 / Rho GTPase activating protein 12ENSG0000016532213
SYDE2 / Q5VT97 / synapse defective Rho GTPase homolog 2ENSG0000009709612
Q9BRR9 / ARHGAP9 / Rho GTPase activating protein 9ENSG0000012332911
Q53QZ3 / ARHGAP15 / Rho GTPase activating protein 15ENSG000000758849
SYDE1 / Q6ZW31 / synapse defective Rho GTPase homolog 1ENSG000001051379
CHN1 / P15882 / chimerin 1ENSG000001286569
AC004593.3 / beta-chimaerin isoform 3 ENSG000002851628
CHN2 / P52757 / chimerin 2ENSG000001060698


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000198  Rho GTPase-activating protein domain
 IPR000219  Dbl homology (DH) domain
 IPR001331  Guanine-nucleotide dissociation stimulator, CDC24, conserved site
 IPR001849  Pleckstrin homology domain
 IPR008936  Rho GTPase activation protein
 IPR011993  PH-like domain superfamily
 IPR015123  Bcr-Abl oncoprotein oligomerisation
 IPR035892  C2 domain superfamily
 IPR035899  Dbl homology (DH) domain superfamily
 IPR036481  Bcr-Abl oncoprotein oligomerisation domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002692 negative regulation of cellular extravasation IEA
 biological_processGO:0003014 renal system process IEA
 biological_processGO:0006468 protein phosphorylation TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007420 brain development IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0030336 negative regulation of cell migration IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0043114 regulation of vascular permeability IEA
 biological_processGO:0043314 negative regulation of neutrophil degranulation IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0046777 protein autophosphorylation IEA
 biological_processGO:0048008 platelet-derived growth factor receptor signaling pathway IEA
 biological_processGO:0048872 homeostasis of number of cells IEA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0050766 positive regulation of phagocytosis IEA
 biological_processGO:0050885 neuromuscular process controlling balance IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0051171 regulation of nitrogen compound metabolic process IEA
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0060216 definitive hemopoiesis IEA
 biological_processGO:0060268 negative regulation of respiratory burst IEA
 biological_processGO:0060313 negative regulation of blood vessel remodeling IEA
 biological_processGO:0065002 intracellular protein transmembrane transport IEA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0014069 postsynaptic density ISS
 cellular_componentGO:0016020 membrane IBA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA


Pathways (from Reactome)
Pathway description
Signaling by cytosolic FGFR1 fusion mutants
Rho GTPase cycle
Signaling by FGFR1 in disease


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
Show

 HP:0000023 Inguinal hernia 
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000219 Thin upper lip 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000276 Long face 
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 HP:0000307 Pointed chin 
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 HP:0000319 Flat philtrum 
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 HP:0000324 Facial asymmetry 
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 HP:0000363 Abnormality of ear lobes 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000426 Prominent nasal bridge 
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 HP:0000430 Hypoplastic nasal alae "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422]
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 HP:0000453 Choanal atresia "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators]
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 HP:0000490 Deep set eyes 
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 HP:0000581 Blepharophimosis "Reduced width of the palpebral fissures." [HPO:sdoelken]
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 HP:0000657 Oculomotor apraxia 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000722 Obsessive-compulsive disorder 
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 HP:0001166 Arachnodactyly "Abnormally long and slender fingers ("spider fingers")." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001428 Somatic mutation 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001622 Premature birth 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
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 HP:0001660 Persistant truncus arteriosus "Persistent Truncus Arteriosus results from a failure of the truncus arteriosus to close." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
Show

 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0001802 Absent toenails 
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 HP:0001817 Absent fingernails 
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 HP:0001852 Gap between first and second toes "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001894 Thrombocytosis 
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 HP:0001912 Abnormality of basophils 
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 HP:0001945 Fever 
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 HP:0001974 Leukocytosis "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson]
Show

 HP:0002021 Pyloric stenosis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002463 Language impairment 
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 HP:0002553 Arched eyebrows 
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 HP:0002607 Bowel incontinence 
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 HP:0002664 Neoplasia "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators]
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 HP:0002673 Coxa valga "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators]
Show

 HP:0002705 High, narrow palate "The presence of a high and narrow palate." [HPO:curators]
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 HP:0002721 Immunodeficiency 
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 HP:0003307 Hyperlordosis 
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
Show

 HP:0004279 Hypoplastic hand 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0004396 Poor appetite 
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 HP:0004848 Ph-positive acute lymphoblastic leukemia 
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 HP:0004852 Low leukocyte alkaline phosphatase "A decreased alkaline phosphatase activity measured within leukocytes." [HPO:probinson]
Show

 HP:0004942 Aortic aneurysms 
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 HP:0005506 Chronic myelogenous leukemia 
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 HP:0005547 Myeloproliferative disorder 
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 HP:0005692 Joint hyperflexibility 
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 HP:0006487 Bowing of the long bones 
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 HP:0006721 Acute lymphatic leukemia "A form of acute leukemia characterized by excess lympoblasts." [HPO:curators]
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 HP:0007018 Attention deficit hyperactivity disorder "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
Show

 HP:0009465 Ulnar deviation of fingers 
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 HP:0009795 Branchial fistula "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [HPO:curators]
Show

 HP:0009882 Hypoplasia of the distal phalanges of the hand 
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 HP:0010296 Ankyloglossia "Short or anteriorly attached lingual frenulum associated with limited mobility of the tongue." [pmid:19125428]
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 HP:0010982 Polygenic inheritance "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0100033 Tic disorders "A tic is a sudden, repetitive, nonrhythmic, stereotyped motor movement or vocalization involving discrete muscle groups." [HPO:sdoelken]
Show

 HP:0100490 Camptodactyly (hands) "Contractures of one ore more joints of the fingers." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / reaction / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / reaction
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / reaction
 ENSG00000186716 BCR / P11274 / BCR, RhoGEF and GTPase activating protein  / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex






 

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