ENSG00000185002


Homo sapiens

Features
Gene ID: ENSG00000185002
  
Biological name :RFX6
  
Synonyms : Q8HWS3 / regulatory factor X6 / RFX6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q22.1
Gene start: 116877212
Gene end: 116932163
  
Corresponding Affymetrix probe sets: 1552673_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000332208
NCBI entrez gene - 222546     See in Manteia.
OMIM - 612659
RefSeq - XM_017010477
RefSeq - NM_173560
RefSeq - XM_011535589
RefSeq Peptide - NP_775831
swissprot - Q8HWS3
Ensembl - ENSG00000185002
  
Related genetic diseases (OMIM): 615710 - Mitchell-Riley syndrome, 615710

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
 rfx6ENSDARG00000041702Danio rerio
 RFX6ENSGALG00000014918Gallus gallus
 Rfx6ENSMUSG00000019900Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RFX4 / Q33E94 / regulatory factor X4ENSG0000011178331
RFX1 / P22670 / regulatory factor X1ENSG0000013200521
RFX3 / P48380 / regulatory factor X3ENSG0000008029820
RFX2 / P48378 / regulatory factor X2ENSG0000008790319
RFX7 / Q2KHR2 / regulatory factor X7ENSG0000018182714
RFX8 / Q6ZV50 / RFX family member 8, lacking RFX DNA binding domainENSG0000019646012
RFX5 / P48382 / regulatory factor X5ENSG000001433909


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003309 type B pancreatic cell differentiation IEA
 biological_processGO:0003310 pancreatic A cell differentiation IEA
 biological_processGO:0003311 pancreatic D cell differentiation IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031018 endocrine pancreas development IMP
 biological_processGO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
 biological_processGO:0042593 glucose homeostasis IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0050796 regulation of insulin secretion IEA
 biological_processGO:0090104 pancreatic epsilon cell differentiation IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005730 nucleolus IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA


Pathways (from Reactome)
Pathway description
Regulation of gene expression in beta cells


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0001511 Intrauterine growth retardation 
Show

 HP:0001545 Anteriorly placed anus "Anterior malposition of the anus." [HPO:curators]
Show

 HP:0002014 Diarrhea 
Show

 HP:0002024 Malabsorption 
Show

 HP:0002247 Duodenal atresia "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:curator]
Show

 HP:0002566 Intestinal malrotation "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators]
Show

 HP:0002594 Pancreatic hypoplasia 
Show

 HP:0002904 Hyperbilirubinemia 
Show

 HP:0003074 Hyperglycemia 
Show

 HP:0005235 Nonduodenal intestinal atresia 
Show

 HP:0005912 Biliary duct atresia 
Show

 HP:0011467 Absent gallbladder "A developmental defect in which the gallbladder fails to form." [DDD:hfirth]
Show

 HP:0011985 Acholic stools "Clay colored stools lacking bile pigment." [HPO:probinson]
Show

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr