ENSMUSG00000040929


Mus musculus

Features
Gene ID: ENSMUSG00000040929
  
Biological name :Rfx3
  
Synonyms : P48381 / Rfx3 / Transcription factor RFX3
  
Possible biological names infered from orthology : P48380 / regulatory factor X3
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: C1
Gene start: 27761721
Gene end: 28011166
  
Corresponding Affymetrix probe sets: 10466865 (MoGene1.0st)   1425413_at (Mouse Genome 430 2.0 Array)   1437375_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000134700
Ensembl peptide - ENSMUSP00000038760
Ensembl peptide - ENSMUSP00000126313
Ensembl peptide - ENSMUSP00000133367
Ensembl peptide - ENSMUSP00000133461
Ensembl peptide - ENSMUSP00000134141
NCBI entrez gene - 19726     See in Manteia.
MGI - MGI:106582
RefSeq - XM_017318087
RefSeq - XM_006526784
RefSeq - XM_006526785
RefSeq - XM_011247167
RefSeq - XM_011247168
RefSeq - XM_011247169
RefSeq - XM_017318086
RefSeq - NM_001166414
RefSeq - NM_011265
RefSeq - XM_006526778
RefSeq - XM_006526780
RefSeq - XM_006526782
RefSeq Peptide - NP_001159886
RefSeq Peptide - NP_035395
swissprot - G5E890
swissprot - G3UZZ6
swissprot - P48381
swissprot - G3UWP0
Ensembl - ENSMUSG00000040929
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rfx3ENSDARG00000014550Danio rerio
 RFX3ENSGALG00000010179Gallus gallus
 RFX3ENSG00000080298Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rfx2 / P48379 / DNA-binding protein RFX2 / P48378* / regulatory factor X2*ENSMUSG0000002420662
Rfx1 / P48377 / MHC class II regulatory factor RFX1 / P22670* / regulatory factor X1*ENSMUSG0000003170658
Rfx4 / Q7TNK1 / Transcription factor RFX4 / Q33E94* / regulatory factor X4*ENSMUSG0000002003725
Rfx6 / Q8C7R7 / DNA-binding protein RFX6 / Q8HWS3* / regulatory factor X6*ENSMUSG0000001990024
Rfx8 / D3YU81 / DNA-binding protein RFX8 / Q6ZV50* / RFX family member 8, lacking RFX DNA binding domain*ENSMUSG0000005717317
Rfx7 / regulatory factor X7 / Q2KHR2*ENSMUSG0000003767416
Rfx5 / Q9JL61 / Mus musculus regulatory factor X, 5 (influences HLA class II expression) (Rfx5), transcript variant 2, mRNA. / P48382* / regulatory factor X5*ENSMUSG000000057749


Protein motifs (from Interpro)
Interpro ID Name
 IPR003150  DNA-binding RFX-type winged-helix domain
 IPR007668  RFX1 transcription activation region
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IMP
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031018 endocrine pancreas development IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0048469 cell maturation IMP
 biological_processGO:0050796 regulation of insulin secretion IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060285 cilium-dependent cell motility IMP
 biological_processGO:0060287 epithelial cilium movement involved in determination of left/right asymmetry IMP
 biological_processGO:0072560 type B pancreatic cell maturation IMP
 biological_processGO:2000078 positive regulation of type B pancreatic cell development IMP
 cellular_componentGO:0000790 nuclear chromatin IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005667 transcription factor complex IC
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0000650 mesocardia "cardiac apex pointing to the middle as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm1.1Wrth/Rfx3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Rfx3tm2.1Wrth/Rfx3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Rfx3tm1Wrth/Rfx3tm1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0002766 situs inversus "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0004131 abnormal embryonic ciliary morphology "any structural malformation of the earliest cilia of the mouse embryo found on the cells of the embryonic node" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0004133 heterotaxia "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0004190 abnormal direction of embryo turning "axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage (Mus E8.5-E9.5); clockwise rotation is frequently associated with heart and visceral defects" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development"]
Show

Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0004402 decreased cochlear outer hair cell number "decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0004403 absent cochlear outer hair cells "absence of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0004434 abnormal cochlear outer hair cell physiology "anomalies in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0005330 cardiomyopathy "diseases of the heart (myocardium); may result from many causes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80681]
Show

Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Lrp2b2b2671Clo/Lrp2b2b2671Clo
Genetic Background: C57BL/6J-Lrp2b2b2671Clo

 MP:0011061 abnormal inner hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells" [GO:0060091]
Show

Allelic Composition: Gfi1tm1(cre)Gan/Gfi1+,Rfx1tm1.1Wrth/Rfx1tm1.1Wrth,Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic Background: involves: 129 * 129S7/SvEvBrd

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Pax6tm2Pgr/Pax6tm2Pgr,Tg(Pdx1-cre)6Cvw/0
Genetic Background: involves: FVB * NMRI

Allelic Composition: Rfx3tm2.1Wrth/Rfx3tm2.1Wrth
Genetic Background: involves: 129 * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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