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]
Show

 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:0000074 Ureteropelvic junction obstruction 
Show

 HP:0000083 Renal failure 
Show

 HP:0000089 Renal hypoplasia 
Show

 HP:0000100 Nephrotic syndrome 
Show

 HP:0000110 Renal dysplasia 
Show

 HP:0000126 Hydronephrosis 
Show

 HP:0000800 Cystic renal dysplasia 
Show

 HP:0001561 Polyhydramnios 
Show

 HP:0001562 Oligohydramnios 
Show

 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
Show

 HP:0003812 Phenotypic variability 
Show

 HP:0008663 Congenital renal sarcoma 
Show

 HP:0008676 Congenital megaloureters 
Show

 HP:0030157 Flank pain "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank." []
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 2007-2025
contact: otassy@igbmc.fr