ENSG00000112837


Homo sapiens

Features
Gene ID: ENSG00000112837
  
Biological name :TBX18
  
Synonyms : O95935 / T-box 18 / TBX18
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q14.3
Gene start: 84687351
Gene end: 84764519
  
Corresponding Affymetrix probe sets: 1559839_at (Human Genome U133 Plus 2.0 Array)   1559840_s_at (Human Genome U133 Plus 2.0 Array)   233889_at (Human Genome U133 Plus 2.0 Array)   242107_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358677
Ensembl peptide - ENSP00000475498
Ensembl peptide - ENSP00000475873
Ensembl peptide - ENSP00000476137
NCBI entrez gene - 9096     See in Manteia.
OMIM - 604613
RefSeq - XM_017011473
RefSeq - NM_001080508
RefSeq - XM_006715602
RefSeq - XM_011536247
RefSeq - XM_011536248
RefSeq - XM_011536249
RefSeq - XM_017011472
RefSeq Peptide - NP_001073977
swissprot - O95935
swissprot - U3KQ31
swissprot - U3KQH2
swissprot - U3KQQ9
Ensembl - ENSG00000112837
  
Related genetic diseases (OMIM): 143400 - Congenital anomalies of kidney and urinary tract 2, 143400

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
 tbx18ENSDARG00000036930Danio rerio
 TBX18ENSGALG00000032789Gallus gallus
 Tbx18ENSMUSG00000032419Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TBX15 / Q96SF7 / T-box 15ENSG0000009260756
TBX22 / Q9Y458 / T-box 22ENSG0000012214537
TBX20 / Q9UMR3 / T-box 20ENSG0000016453229
TBX2 / Q13207 / T-box 2ENSG0000012106826
TBX3 / O15119 / T-box 3ENSG0000013511126
TBX1 / O43435 / T-box 1ENSG0000018405826
TBX10 / O75333 / T-box 10ENSG0000016780025
TBX4 / P57082 / T-box 4ENSG0000012107524
TBX5 / Q99593 / T-box 5ENSG0000008922522
TBX6 / O95947 / T-box 6ENSG0000014992221


Protein motifs (from Interpro)
Interpro ID Name
 IPR001699  Transcription factor, T-box
 IPR008967  p53-like transcription factor, DNA-binding
 IPR018186  Transcription factor, T-box, conserved site
 IPR036960  T-box superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 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:0007275 multicellular organism development IEA
 biological_processGO:0060829 negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation ISS
 biological_processGO:0072001 renal system development IMP
 biological_processGO:1903507 negative regulation of nucleic acid-templated transcription IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding ISS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0046982 protein heterodimerization activity ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000003 Multicystic kidney "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators]
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 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:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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 HP:0000074 Ureteropelvic junction obstruction 
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 HP:0000083 Renal failure 
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 HP:0000089 Renal hypoplasia 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000110 Renal dysplasia 
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 HP:0000126 Hydronephrosis 
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 HP:0000800 Cystic renal dysplasia 
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 HP:0001561 Polyhydramnios 
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 HP:0001562 Oligohydramnios 
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 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
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 HP:0003812 Phenotypic variability 
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 HP:0008663 Congenital renal sarcoma 
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 HP:0008676 Congenital megaloureters 
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 HP:0030157 Flank pain "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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