ENSG00000106536


Homo sapiens

Features
Gene ID: ENSG00000106536
  
Biological name :POU6F2
  
Synonyms : P78424 / POU6F2 / POU class 6 homeobox 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p14.1
Gene start: 38977998
Gene end: 39493095
  
Corresponding Affymetrix probe sets: 207450_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452911
Ensembl peptide - ENSP00000452633
Ensembl peptide - ENSP00000453020
Ensembl peptide - ENSP00000384004
Ensembl peptide - ENSP00000404868
Ensembl peptide - ENSP00000409684
Ensembl peptide - ENSP00000430514
NCBI entrez gene - 11281     See in Manteia.
OMIM - 609062
RefSeq - XM_011515113
RefSeq - NM_001166018
RefSeq - NM_007252
RefSeq Peptide - NP_001159490
RefSeq Peptide - NP_009183
swissprot - P78424
swissprot - C9JSC0
swissprot - H0YK27
swissprot - H0YL15
swissprot - H0YKR5
swissprot - H7C2B2
Ensembl - ENSG00000106536
  
Related genetic diseases (OMIM): 601583 - {Wilms tumor susceptibility-5}, 601583

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
 pou6f2ENSDARG00000086362Danio rerio
 POU6F2ENSGALG00000031713Gallus gallus
 Pou6f2ENSMUSG00000009734Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
POU6F1 / POU class 6 homeobox 1ENSG0000018427135


Protein motifs (from Interpro)
Interpro ID Name
 IPR000327  POU-specific domain
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR010982  Lambda repressor-like, DNA-binding domain superfamily
 IPR013847  POU domain
 IPR033056  POU domain, class 6, transcription factor 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 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:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007402 ganglion mother cell fate determination TAS
 biological_processGO:0007417 central nervous system development TAS
 biological_processGO:0007601 visual perception TAS
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
Show

 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0001945 Fever 
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 HP:0002027 Abdominal pain 
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 HP:0002667 Nephroblastoma (Wilms tumor) "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators]
Show

 HP:0002716 Lymphadenopathy 
Show

 HP:0002896 Liver cancer 
Show

 HP:0100526 Neoplasia of the lungs 
Show

  


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






 

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