ENSG00000168214


Homo sapiens

Features
Gene ID: ENSG00000168214
  
Biological name :RBPJ
  
Synonyms : Q06330 / RBPJ / recombination signal binding protein for immunoglobulin kappa J region
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: p15.2
Gene start: 26163455
Gene end: 26435131
  
Corresponding Affymetrix probe sets: 207785_s_at (Human Genome U133 Plus 2.0 Array)   211974_x_at (Human Genome U133 Plus 2.0 Array)   229540_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422617
Ensembl peptide - ENSP00000421804
Ensembl peptide - ENSP00000422838
Ensembl peptide - ENSP00000427344
Ensembl peptide - ENSP00000427170
Ensembl peptide - ENSP00000426872
Ensembl peptide - ENSP00000425750
Ensembl peptide - ENSP00000425061
Ensembl peptide - ENSP00000424989
Ensembl peptide - ENSP00000424804
Ensembl peptide - ENSP00000424789
Ensembl peptide - ENSP00000424459
Ensembl peptide - ENSP00000423907
Ensembl peptide - ENSP00000423703
Ensembl peptide - ENSP00000423644
Ensembl peptide - ENSP00000423575
Ensembl peptide - ENSP00000423406
Ensembl peptide - ENSP00000305815
Ensembl peptide - ENSP00000339699
Ensembl peptide - ENSP00000340124
Ensembl peptide - ENSP00000345206
Ensembl peptide - ENSP00000347659
Ensembl peptide - ENSP00000354528
NCBI entrez gene - 3516     See in Manteia.
OMIM - 147183
RefSeq - XM_017008175
RefSeq - NM_005349
RefSeq - NM_015874
RefSeq - NM_203283
RefSeq - NM_203284
RefSeq - XM_005248161
RefSeq - XM_011513840
RefSeq - XM_017008170
RefSeq - XM_017008171
RefSeq - XM_017008172
RefSeq - XM_017008173
RefSeq - XM_017008174
RefSeq Peptide - NP_056958
RefSeq Peptide - NP_976028
RefSeq Peptide - NP_976029
RefSeq Peptide - NP_005340
swissprot - Q06330
swissprot - D6R927
swissprot - D6RIZ8
swissprot - D6RIV8
swissprot - D6RF98
swissprot - D6REP3
swissprot - D6REC2
swissprot - D6RE93
swissprot - D6RCM1
swissprot - D6RBQ8
swissprot - D6RB37
swissprot - D6RAT2
swissprot - D6R9X3
swissprot - D6RA45
swissprot - D6R9K5
swissprot - D6R946
swissprot - H0Y8R3
Ensembl - ENSG00000168214
  
Related genetic diseases (OMIM): 614814 - Adams-Oliver syndrome 3, 614814

This gene has been taged as a transcription factor by TFT
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
 rbpjaENSDARG00000003398Danio rerio
 rbpjbENSDARG00000052091Danio rerio
 RBPJENSGALG00000014365Gallus gallus
 RbpjENSMUSG00000039191Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RBPJL / Q9UBG7 / recombination signal binding protein for immunoglobulin kappa J region likeENSG0000012423249


Protein motifs (from Interpro)
Interpro ID Name
 IPR002909  IPT domain
 IPR008967  p53-like transcription factor, DNA-binding
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR015350  Beta-trefoil DNA-binding domain
 IPR015351  RBP-J/Cbf11/Cbf12, DNA binding
 IPR036358  Beta-trefoil domain superfamily
 IPR037095  RBP-J/Cbf11/Cbf12, DNA binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0001837 epithelial to mesenchymal transition IEA
 biological_processGO:0001974 blood vessel remodeling IEA
 biological_processGO:0002437 inflammatory response to antigenic stimulus IEA
 biological_processGO:0003139 secondary heart field specification IEA
 biological_processGO:0003151 outflow tract morphogenesis IEA
 biological_processGO:0003157 endocardium development IEA
 biological_processGO:0003160 endocardium morphogenesis IEA
 biological_processGO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation IEA
 biological_processGO:0003214 cardiac left ventricle morphogenesis IEA
 biological_processGO:0003222 ventricular trabecula myocardium morphogenesis IEA
 biological_processGO:0003256 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation IEA
 biological_processGO:0006310 DNA recombination NAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006959 humoral immune response IEA
 biological_processGO:0007219 Notch signaling pathway IMP
 biological_processGO:0007221 positive regulation of transcription of Notch receptor target IDA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0009912 auditory receptor cell fate commitment IEA
 biological_processGO:0009957 epidermal cell fate specification IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0021983 pituitary gland development IEA
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0030182 neuron differentiation IEA
 biological_processGO:0030183 B cell differentiation IEA
 biological_processGO:0030216 keratinocyte differentiation IEA
 biological_processGO:0030279 negative regulation of ossification IEA
 biological_processGO:0030513 positive regulation of BMP signaling pathway IEA
 biological_processGO:0035019 somatic stem cell population maintenance IEA
 biological_processGO:0035912 dorsal aorta morphogenesis IEA
 biological_processGO:0036302 atrioventricular canal development IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042742 defense response to bacterium IEA
 biological_processGO:0043011 myeloid dendritic cell differentiation IEA
 biological_processGO:0045165 cell fate commitment IEA
 biological_processGO:0045596 negative regulation of cell differentiation IEA
 biological_processGO:0045747 positive regulation of Notch signaling pathway TAS
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048505 regulation of timing of cell differentiation IEA
 biological_processGO:0048733 sebaceous gland development IEA
 biological_processGO:0048820 hair follicle maturation IEA
 biological_processGO:0048844 artery morphogenesis IEA
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation IEA
 biological_processGO:0060486 Clara cell differentiation IEA
 biological_processGO:0060716 labyrinthine layer blood vessel development IEA
 biological_processGO:0060844 arterial endothelial cell fate commitment IEA
 biological_processGO:0061314 Notch signaling involved in heart development IC
 biological_processGO:0061419 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia IDA
 biological_processGO:0072554 blood vessel lumenization IEA
 biological_processGO:0072602 interleukin-4 secretion IEA
 biological_processGO:0097101 blood vessel endothelial cell fate specification IEA
 biological_processGO:1901186 positive regulation of ERBB signaling pathway IEA
 biological_processGO:1901189 positive regulation of ephrin receptor signaling pathway IEA
 biological_processGO:1901297 positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment IEA
 biological_processGO:2000138 positive regulation of cell proliferation involved in heart morphogenesis IEA
 cellular_componentGO:0002193 MAML1-RBP-Jkappa- ICN1 complex IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0017053 transcriptional repressor complex IDA
 molecular_functionGO:0000150 recombinase activity NAS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000982 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001103 RNA polymerase II repressing transcription factor binding IPI
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding TAS
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0070491 repressing transcription factor binding IPI


Pathways (from Reactome)
Pathway description
Pre-NOTCH Transcription and Translation
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
NOTCH1 Intracellular Domain Regulates Transcription
NOTCH2 intracellular domain regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000238 Hydrocephalus 
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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:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000581 Blepharophimosis "Reduced width of the palpebral fissures." [HPO:sdoelken]
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 HP:0000965 Cutis marmorata 
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 HP:0001057 Aplasia cutis congenita "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:curators]
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 HP:0001156 Brachydactyly 
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 HP:0001163 Abnormality of the metacarpal bones 
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 HP:0001171 Ectrodactyly (hands) 
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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:0001269 Hemiparesis "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001362 Skull defect "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:curators]
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 HP:0001394 Cirrhosis 
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 HP:0001409 Portal hypertension 
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 HP:0001508 Failure to thrive 
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 HP:0001541 Ascites 
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001622 Premature birth 
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 HP:0001636 Tetralogy of Fallot "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators]
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 HP:0001641 Abnormality of the pulmonary valve "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson]
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 HP:0001804 Hypoplastic fingernails "Underdeveloped fingernails." [HPO:curators]
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 HP:0001817 Absent fingernails 
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 HP:0001873 Thrombocytopenia 
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 HP:0001882 Leukopenia 
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 HP:0001883 Talipes 
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 HP:0002040 Esophageal varices 
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 HP:0002084 Encephalocele 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002132 Porencephaly 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
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 HP:0002612 Congenital hepatic fibrosis 
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 HP:0004050 Absent hands 
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 HP:0004691 2-3 toe syndactyly "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken]
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 HP:0004935 Pulmonary artery atresia 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, 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 fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0006970 Periventricular leukomalacia 
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 HP:0008070 Sparse hair 
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 HP:0009882 Hypoplasia of the distal phalanges of the hand 
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 HP:0010624 Aplastic/hypoplastic toenails 
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 HP:0010743 Hypoplasia of the metatarsal bones 
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 HP:0010760 Aplasia of the toes 
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 HP:0012745 Short palpebral fissure "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427]
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 HP:0100026 Arteriovenous malformations 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100603 SNW1 / Q13573 / SNW domain containing 1  / complex
 ENSG00000196782 MAML3 / Q96JK9 / mastermind like transcriptional coactivator 3  / reaction / complex
 ENSG00000184384 MAML2 / Q8IZL2 / mastermind like transcriptional coactivator 2  / reaction / complex
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex / reaction
 ENSG00000134250 NOTCH2 / Q04721  / reaction / complex
 ENSG00000114166 KAT2B / Q92831 / lysine acetyltransferase 2B  / complex
 ENSG00000118260 CREB1 / P16220 / cAMP responsive element binding protein 1  / reaction / complex
 ENSG00000204301 NOTCH4 / Q99466  / reaction / complex
 ENSG00000148400 NOTCH1 / P46531  / complex
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000161021 MAML1 / Q92585 / mastermind like transcriptional coactivator 1  / reaction / complex
 ENSG00000074181 NOTCH3 / Q9UM47  / complex / reaction
 ENSG00000112237 CCNC / P24863 / cyclin C  / reaction / complex
 ENSG00000132964 CDK8 / P49336 / cyclin dependent kinase 8  / complex / reaction






 

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