ENSG00000107859


Homo sapiens

Features
Gene ID: ENSG00000107859
  
Biological name :PITX3
  
Synonyms : O75364 / paired like homeodomain 3 / PITX3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q24.32
Gene start: 102230186
Gene end: 102241474
  
Corresponding Affymetrix probe sets: 208277_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000439383
Ensembl peptide - ENSP00000359019
NCBI entrez gene - 5309     See in Manteia.
OMIM - 602669
RefSeq - NM_005029
RefSeq Peptide - NP_005020
swissprot - O75364
Ensembl - ENSG00000107859
  
Related genetic diseases (OMIM): 107250 - Anterior segment dysgenesis 1, multiple subtypes, 107250
  610623 - Cataract 11, multiple types, 610623

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
 pitx1ENSDARG00000116608Danio rerio
 PITX1ENSGALG00000030237Gallus gallus
 Pitx3ENSMUSG00000025229Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PITX2 / Q99697 / paired like homeodomain 2ENSG0000016409357
PITX1 / P78337 / paired like homeodomain 1ENSG0000006901152
DMBX1 / Q8NFW5 / diencephalon/mesencephalon homeobox 1ENSG0000019758725
PRRX2 / Q99811 / paired related homeobox 2ENSG0000016715725
PRRX1 / P54821 / paired related homeobox 1ENSG0000011613223
OTX1 / P32242 / orthodenticle homeobox 1ENSG0000011550722
OTX2 / P32243 / orthodenticle homeobox 2ENSG0000016558822
CRX / O43186 / cone-rod homeoboxENSG0000010539221
PROP1 / O75360 / PROP paired-like homeobox 1ENSG0000017532517
GSC2 / O15499 / goosecoid homeobox 2ENSG0000006351516
GSC / P56915 / goosecoid homeoboxENSG0000013393716
MIXL1 / Q9H2W2 / Mix paired-like homeoboxENSG0000018515514


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR016233  Homeobox protein Pitx/unc30
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye ISS
 biological_processGO:0002089 lens morphogenesis in camera-type eye ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated ISS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0009887 animal organ morphogenesis TAS
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0014014 negative regulation of gliogenesis IEA
 biological_processGO:0030901 midbrain development ISS
 biological_processGO:0035902 response to immobilization stress IEA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0043278 response to morphine IEA
 biological_processGO:0043525 positive regulation of neuron apoptotic process IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048666 neuron development IEA
 biological_processGO:0050768 negative regulation of neurogenesis IEA
 biological_processGO:0070306 lens fiber cell differentiation IEA
 biological_processGO:0071542 dopaminergic neuron differentiation ISS
 biological_processGO:1904313 response to methamphetamine hydrochloride IEA
 biological_processGO:1904935 positive regulation of cell proliferation in midbrain IEA
 biological_processGO:1990792 cellular response to glial cell derived neurotrophic factor IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0043025 neuronal cell body IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


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]
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 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000659 Peters anomaly 
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 HP:0001115 Posterior polar cataract "A `polar cataract` (HP:0010696) that affects the `posterior pole of the lens` (FMA:58898)." [HPO:probinson]
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 HP:0007700 Anterior chamber cleavage disorder 
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 HP:0007759 Corneal opacities, not impairing visual acuity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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