ENSG00000126603


Homo sapiens

Features
Gene ID: ENSG00000126603
  
Biological name :GLIS2
  
Synonyms : GLIS2 / GLIS family zinc finger 2 / Q9BZE0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p13.3
Gene start: 4314761
Gene end: 4339597
  
Corresponding Affymetrix probe sets: 223378_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262366
Ensembl peptide - ENSP00000395547
NCBI entrez gene - 84662     See in Manteia.
OMIM - 608539
RefSeq - XM_005255641
RefSeq - NM_001318918
RefSeq - NM_032575
RefSeq Peptide - NP_115964
RefSeq Peptide - NP_001305847
swissprot - Q9BZE0
Ensembl - ENSG00000126603
  
Related genetic diseases (OMIM): 611498 - Nephronophthisis 7, 611498

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
 glis2aENSDARG00000078388Danio rerio
 glis2bENSDARG00000100232Danio rerio
 GLIS2ENSGALG00000034737Gallus gallus
 Glis2ENSMUSG00000014303Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GLI2 / P10070 / GLI family zinc finger 2ENSG0000007404735
GLI3 / P10071 / GLI family zinc finger 3ENSG0000010657130
GLI1 / P08151 / GLI family zinc finger 1ENSG0000011108729
GLIS3 / Q8NEA6 / GLIS family zinc finger 3ENSG0000010724925
GLIS1 / Q8NBF1 / GLIS family zinc finger 1ENSG0000017433224
ZIC5 / Q96T25 / Zic family member 5ENSG0000013980020
ZIC4 / Q8N9L1 / Zic family member 4ENSG0000017496319
ZIC2 / O95409 / Zic family member 2ENSG0000004335519
ZIC1 / Q15915 / Zic family member 1ENSG0000015297718
ZIC3 / O60481 / Zic family member 3ENSG0000015692518


Protein motifs (from Interpro)
Interpro ID Name
 IPR013087  Zinc finger C2H2-type
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0001822 kidney development 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:0007399 nervous system development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity ISS
 biological_processGO:0045879 negative regulation of smoothened signaling pathway ISS
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0060994 regulation of transcription from RNA polymerase II promoter involved in kidney development IEA
 biological_processGO:0061005 cell differentiation involved in kidney development IEA
 biological_processGO:1900182 positive regulation of protein localization to nucleus IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016607 nuclear speck ISS
 cellular_componentGO:0097730 non-motile cilium IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding ISS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


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]
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 HP:0000090 Nephronophthisis 
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 HP:0000092 Tubular atrophy 
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 HP:0003774 End stage renal disease 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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