Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PITX3 (paired like homeodomain 3)

Identity

Alias (NCBI)ASGD1
ASMD
ASOD
CTPP4
CTRCT11
PTX3
HGNC (Hugo) PITX3
HGNC Previous nameASMD
HGNC Previous namepaired-like homeodomain transcription factor 3
 anterior segment mesenchymal dysgenesis
 paired-like homeodomain 3
LocusID (NCBI) 5309
Atlas_Id 56649
Location 10q24.32  [Link to chromosome band 10q24]
Location_base_pair Starts at 102230189 and ends at 102241512 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PITX3   9006
Cards
Entrez_Gene (NCBI)PITX3    paired like homeodomain 3
AliasesASGD1; ASMD; ASOD; CTPP4; 
CTRCT11; PTX3
GeneCards (Weizmann)PITX3
Ensembl hg19 (Hinxton)ENSG00000107859 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107859 [Gene_View]  ENSG00000107859 [Sequence]  chr10:102230189-102241512 [Contig_View]  PITX3 [Vega]
ICGC DataPortalENSG00000107859
TCGA cBioPortalPITX3
AceView (NCBI)PITX3
Genatlas (Paris)PITX3
SOURCE (Princeton)PITX3
Genetics Home Reference (NIH)PITX3
Genomic and cartography
GoldenPath hg38 (UCSC)PITX3  -     chr10:102230189-102241512 -  10q24.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PITX3  -     10q24.32   [Description]    (hg19-Feb_2009)
GoldenPathPITX3 - 10q24.32 [CytoView hg19]  PITX3 - 10q24.32 [CytoView hg38]
ImmunoBaseENSG00000107859
Genome Data Viewer NCBIPITX3 [Mapview hg19]  
OMIM107250   602669   610623   
Gene and transcription
Genbank (Entrez)AF041339 BC011642
RefSeq transcript (Entrez)NM_005029
Consensus coding sequences : CCDS (NCBI)PITX3
Gene ExpressionPITX3 [ NCBI-GEO ]   PITX3 [ EBI - ARRAY_EXPRESS ]   PITX3 [ SEEK ]   PITX3 [ MEM ]
Gene Expression Viewer (FireBrowse)PITX3 [ Firebrowse - Broad ]
GenevisibleExpression of PITX3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5309
GTEX Portal (Tissue expression)PITX3
Human Protein AtlasENSG00000107859-PITX3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75364   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75364  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75364
PhosPhoSitePlusO75364
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    Homeobox_Pitx/unc30    OAR_dom   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PITX3
SuperfamilyO75364
AlphaFold pdb e-kbO75364   
Human Protein Atlas [tissue]ENSG00000107859-PITX3 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O75364
IntAct (EBI)O75364
BioGRIDPITX3
STRING (EMBL)PITX3
ZODIACPITX3
Ontologies - Pathways
QuickGOO75364
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  lens development in camera-type eye  lens morphogenesis in camera-type eye  nucleus  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  aging  locomotory behavior  anatomical structure morphogenesis  animal organ morphogenesis  negative regulation of gliogenesis  midbrain development  response to immobilization stress  response to cocaine  neuronal cell body  response to morphine  positive regulation of neuron apoptotic process  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  neuron development  lens fiber cell differentiation  dopaminergic neuron differentiation  dopaminergic neuron differentiation  response to methamphetamine hydrochloride  positive regulation of cell proliferation in midbrain  cellular response to glial cell derived neurotrophic factor  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  lens development in camera-type eye  lens morphogenesis in camera-type eye  nucleus  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  aging  locomotory behavior  anatomical structure morphogenesis  animal organ morphogenesis  negative regulation of gliogenesis  midbrain development  response to immobilization stress  response to cocaine  neuronal cell body  response to morphine  positive regulation of neuron apoptotic process  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  neuron development  lens fiber cell differentiation  dopaminergic neuron differentiation  dopaminergic neuron differentiation  response to methamphetamine hydrochloride  positive regulation of cell proliferation in midbrain  cellular response to glial cell derived neurotrophic factor  sequence-specific double-stranded DNA binding  
NDEx NetworkPITX3
Atlas of Cancer Signalling NetworkPITX3
Wikipedia pathwaysPITX3
Orthology - Evolution
OrthoDB5309
GeneTree (enSembl)ENSG00000107859
Phylogenetic Trees/Animal Genes : TreeFamPITX3
Homologs : HomoloGenePITX3
Homology/Alignments : Family Browser (UCSC)PITX3
Gene fusions - Rearrangements
Fusion : QuiverPITX3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITX3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITX3
dbVarPITX3
ClinVarPITX3
MonarchPITX3
1000_GenomesPITX3 
Exome Variant ServerPITX3
GNOMAD BrowserENSG00000107859
Varsome BrowserPITX3
ACMGPITX3 variants
VarityO75364
Genomic Variants (DGV)PITX3 [DGVbeta]
DECIPHERPITX3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPITX3 
Mutations
ICGC Data PortalPITX3 
TCGA Data PortalPITX3 
Broad Tumor PortalPITX3
OASIS PortalPITX3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITX3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPITX3
Mutations and Diseases : HGMDPITX3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPITX3
DgiDB (Drug Gene Interaction Database)PITX3
DoCM (Curated mutations)PITX3
CIViC (Clinical Interpretations of Variants in Cancer)PITX3
Cancer3DPITX3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107250    602669    610623   
Orphanet
DisGeNETPITX3
MedgenPITX3
Genetic Testing Registry PITX3
NextProtO75364 [Medical]
GENETestsPITX3
Target ValidationPITX3
Huge Navigator PITX3 [HugePedia]
ClinGenPITX3
Clinical trials, drugs, therapy
MyCancerGenomePITX3
Protein Interactions : CTDPITX3
Pharm GKB GenePA33340
PharosO75364
Clinical trialPITX3
Miscellaneous
canSAR (ICR)PITX3
HarmonizomePITX3
DataMed IndexPITX3
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPITX3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:25:27 CEST 2021

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