ENSG00000164736


Homo sapiens

Features
Gene ID: ENSG00000164736
  
Biological name :SOX17
  
Synonyms : Q9H6I2 / SOX17 / SRY-box 17
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: q11.23
Gene start: 54457935
Gene end: 54460888
  
Corresponding Affymetrix probe sets: 219993_at (Human Genome U133 Plus 2.0 Array)   230943_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000297316
NCBI entrez gene - 64321     See in Manteia.
OMIM - 610928
RefSeq - NM_022454
RefSeq Peptide - NP_071899
swissprot - Q9H6I2
Ensembl - ENSG00000164736
  
Related genetic diseases (OMIM): 613674 - Vesicoureteral reflux 3, 613674

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
 sox17ENSDARG00000101717Danio rerio
 sox32ENSDARG00000100591Danio rerio
 ENSGALG00000032994Gallus gallus
 SOX17ENSGALG00000032851Gallus gallus
 Sox17ENSMUSG00000025902Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SOX7 / Q9BT81 / SRY-box 7ENSG0000017105642
SOX18 / P35713 / SRY-box 18ENSG0000020388340
AC105001.2ENSG0000025872433
SOX9 / P48436 / SRY-box 9ENSG0000012539826
SOX8 / P57073 / SRY-box 8ENSG0000000551325
SOX10 / P56693 / SRY-box 10ENSG0000010014623
SOX3 / P41225 / SRY-box 3ENSG0000013459521
SOX2 / P48431 / SRY-box 2ENSG0000018144920
SOX1 / O00570 / SRY-box 1ENSG0000018296820
SOX11 / P35716 / SRY-box 11ENSG0000017688719
SOX4 / Q06945 / SRY-box 4ENSG0000012476619
SOX15 / O60248 / SRY-box 15ENSG0000012919418
SOX14 / O95416 / SRY-box 14ENSG0000016887516
SOX12 / O15370 / SRY-box 12ENSG0000017773216
SOX21 / Q9Y651 / SRY-box 21ENSG0000012528515
SRY / Q05066 / sex determining region YENSG0000018489513


Protein motifs (from Interpro)
Interpro ID Name
 IPR009071  High mobility group box domain
 IPR021934  Sox, C-terminal
 IPR033392  Sox 7/17/18, central domain
 IPR036910  High mobility group box 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:0001570 vasculogenesis IEA
 biological_processGO:0001706 endoderm formation IDA
 biological_processGO:0001828 inner cell mass cellular morphogenesis IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0003142 cardiogenic plate morphogenesis IEA
 biological_processGO:0003143 embryonic heart tube morphogenesis IEA
 biological_processGO:0003151 outflow tract morphogenesis IEA
 biological_processGO:0003308 negative regulation of Wnt signaling pathway involved in heart development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated ISS
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007369 gastrulation IEA
 biological_processGO:0007492 endoderm development IEA
 biological_processGO:0007493 endodermal cell fate determination IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0021903 rostrocaudal neural tube patterning IEA
 biological_processGO:0023019 signal transduction involved in regulation of gene expression IEA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IEA
 biological_processGO:0030308 negative regulation of cell growth IMP
 biological_processGO:0031648 protein destabilization IMP
 biological_processGO:0035050 embryonic heart tube development IEA
 biological_processGO:0042074 cell migration involved in gastrulation IEA
 biological_processGO:0042661 regulation of mesodermal cell fate specification IEA
 biological_processGO:0042662 negative regulation of mesodermal cell fate specification IEA
 biological_processGO:0042789 mRNA transcription by RNA polymerase II IDA
 biological_processGO:0045595 regulation of cell differentiation IEA
 biological_processGO:0045597 positive regulation of cell differentiation IEA
 biological_processGO:0045732 positive regulation of protein catabolic process IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0045995 regulation of embryonic development IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0048617 embryonic foregut morphogenesis IEA
 biological_processGO:0048643 positive regulation of skeletal muscle tissue development IEA
 biological_processGO:0048863 stem cell differentiation IEA
 biological_processGO:0048866 stem cell fate specification IEA
 biological_processGO:0050821 protein stabilization IMP
 biological_processGO:0060070 canonical Wnt signaling pathway IEA
 biological_processGO:0060214 endocardium formation IEA
 biological_processGO:0060807 regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification IEA
 biological_processGO:0060913 cardiac cell fate determination IMP
 biological_processGO:0060914 heart formation TAS
 biological_processGO:0060956 endocardial cell differentiation IEA
 biological_processGO:0061009 common bile duct development IEA
 biological_processGO:0061010 gall bladder development IEA
 biological_processGO:0061031 endodermal digestive tract morphogenesis IEA
 biological_processGO:0072001 renal system development IMP
 biological_processGO:0072091 regulation of stem cell proliferation IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IMP
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 biological_processGO:2000035 regulation of stem cell division IEA
 biological_processGO:2000043 regulation of cardiac cell fate specification IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IDA
 cellular_componentGO:0044798 nuclear transcription factor complex IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
Deactivation of the beta-catenin transactivating complex


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]
Show

 HP:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
Show

 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
Show

 HP:0000126 Hydronephrosis 
Show

 HP:0001561 Polyhydramnios 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138795 LEF1 / Q9UJU2 / lymphoid enhancer binding factor 1  / reaction / complex
 ENSG00000168036 CTNNB1 / P35222 / catenin beta 1  / reaction / complex
 ENSG00000148737 Q9NQB0 / TCF7L2 / transcription factor 7 like 2  / reaction / complex






 

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