Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PITX2 (paired like homeodomain 2)

Identity

Other namesARP1
Brx1
IDG2
IGDS
IGDS2
IHG2
IRID2
Otlx2
PTX2
RGS
RIEG
RIEG1
RS
HGNC (Hugo) PITX2
LocusID (NCBI) 5308
Atlas_Id 402
Location 4q25  [Link to chromosome band 4q25]
Location_base_pair Starts at 111538580 and ends at 111544254 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PITX2 (4q25) / MIPOL1 (14q13.3)PITX2 (4q25) / PPP1R15A (19q13.33)

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)PITX2   9005
Cards
Entrez_Gene (NCBI)PITX2  5308  paired like homeodomain 2
AliasesARP1; Brx1; IDG2; IGDS; 
IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
GeneCards (Weizmann)PITX2
Ensembl hg19 (Hinxton)ENSG00000164093 [Gene_View]  chr4:111538580-111544254 [Contig_View]  PITX2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164093 [Gene_View]  chr4:111538580-111544254 [Contig_View]  PITX2 [Vega]
ICGC DataPortalENSG00000164093
TCGA cBioPortalPITX2
AceView (NCBI)PITX2
Genatlas (Paris)PITX2
WikiGenes5308
SOURCE (Princeton)PITX2
Genomic and cartography
GoldenPath hg19 (UCSC)PITX2  -     chr4:111538580-111544254 -  4q25   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PITX2  -     4q25   [Description]    (hg38-Dec_2013)
EnsemblPITX2 - 4q25 [CytoView hg19]  PITX2 - 4q25 [CytoView hg38]
Mapping of homologs : NCBIPITX2 [Mapview hg19]  PITX2 [Mapview hg38]
OMIM137600   180500   180550   601542   604229   
Gene and transcription
Genbank (Entrez)AF048720 AF048721 AF048722 AK127829 AK291591
RefSeq transcript (Entrez)NM_000325 NM_001204397 NM_001204398 NM_001204399 NM_153426 NM_153427
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_007120 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)PITX2
Cluster EST : UnigeneHs.738484 [ NCBI ]
CGAP (NCI)Hs.738484
Alternative Splicing GalleryENSG00000164093
Gene ExpressionPITX2 [ NCBI-GEO ]   PITX2 [ EBI - ARRAY_EXPRESS ]   PITX2 [ SEEK ]   PITX2 [ MEM ]
Gene Expression Viewer (FireBrowse)PITX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5308
GTEX Portal (Tissue expression)PITX2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99697 (Uniprot)
NextProtQ99697  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99697
Splice isoforms : SwissVarQ99697 (Swissvar)
PhosPhoSitePlusQ99697
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeobox_Pitx/unc30    Homeodomain-like    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations5308
Blocks (Seattle)PITX2
PDB (SRS)2L7F    2L7M    2LKX   
PDB (PDBSum)2L7F    2L7M    2LKX   
PDB (IMB)2L7F    2L7M    2LKX   
PDB (RSDB)2L7F    2L7M    2LKX   
Structural Biology KnowledgeBase2L7F    2L7M    2LKX   
SCOP (Structural Classification of Proteins)2L7F    2L7M    2LKX   
CATH (Classification of proteins structures)2L7F    2L7M    2LKX   
SuperfamilyQ99697
Human Protein AtlasENSG00000164093
Peptide AtlasQ99697
HPRD03328
IPIIPI00017093   IPI00220801   IPI00220802   IPI01025655   IPI00791415   IPI00968016   IPI00967695   
Protein Interaction databases
DIP (DOE-UCLA)Q99697
IntAct (EBI)Q99697
FunCoupENSG00000164093
BioGRIDPITX2
STRING (EMBL)PITX2
ZODIACPITX2
Ontologies - Pathways
QuickGOQ99697
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  transcriptional repressor activity, RNA polymerase II transcription factor binding  patterning of blood vessels  vasculogenesis  in utero embryonic development  neuron migration  extraocular skeletal muscle development  atrioventricular valve development  cardiac neural crest cell migration involved in outflow tract morphogenesis  pulmonary myocardium development  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription factor complex  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  determination of left/right symmetry  myoblast fusion  transcription factor binding  male gonad development  female gonad development  response to hormone  Wnt signaling pathway  subthalamic nucleus development  hypothalamus cell migration  regulation of cell migration  embryonic camera-type eye development  chromatin DNA binding  response to vitamin A  embryonic hindlimb morphogenesis  hair cell differentiation  vascular smooth muscle cell differentiation  deltoid tuberosity development  odontogenesis of dentin-containing tooth  odontogenesis  identical protein binding  protein homodimerization activity  camera-type eye development  ribonucleoprotein complex binding  positive regulation of DNA binding  positive regulation of transcription from RNA polymerase II promoter  spleen development  embryonic digestive tract morphogenesis  phosphoprotein binding  atrial cardiac muscle tissue morphogenesis  ventricular cardiac muscle cell development  somatotropin secreting cell differentiation  prolactin secreting cell differentiation  ventricular septum morphogenesis  left lung morphogenesis  pulmonary vein morphogenesis  superior vena cava morphogenesis  endodermal digestive tract morphogenesis  iris morphogenesis  cell proliferation involved in outflow tract morphogenesis  left/right axis specification  positive regulation of myoblast proliferation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  transcriptional repressor activity, RNA polymerase II transcription factor binding  patterning of blood vessels  vasculogenesis  in utero embryonic development  neuron migration  extraocular skeletal muscle development  atrioventricular valve development  cardiac neural crest cell migration involved in outflow tract morphogenesis  pulmonary myocardium development  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription factor complex  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  determination of left/right symmetry  myoblast fusion  transcription factor binding  male gonad development  female gonad development  response to hormone  Wnt signaling pathway  subthalamic nucleus development  hypothalamus cell migration  regulation of cell migration  embryonic camera-type eye development  chromatin DNA binding  response to vitamin A  embryonic hindlimb morphogenesis  hair cell differentiation  vascular smooth muscle cell differentiation  deltoid tuberosity development  odontogenesis of dentin-containing tooth  odontogenesis  identical protein binding  protein homodimerization activity  camera-type eye development  ribonucleoprotein complex binding  positive regulation of DNA binding  positive regulation of transcription from RNA polymerase II promoter  spleen development  embryonic digestive tract morphogenesis  phosphoprotein binding  atrial cardiac muscle tissue morphogenesis  ventricular cardiac muscle cell development  somatotropin secreting cell differentiation  prolactin secreting cell differentiation  ventricular septum morphogenesis  left lung morphogenesis  pulmonary vein morphogenesis  superior vena cava morphogenesis  endodermal digestive tract morphogenesis  iris morphogenesis  cell proliferation involved in outflow tract morphogenesis  left/right axis specification  positive regulation of myoblast proliferation  
Pathways : BIOCARTAMulti-step Regulation of Transcription by Pitx2 [Genes]   
Pathways : KEGGTGF-beta signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkPITX2
Wikipedia pathwaysPITX2
Orthology - Evolution
OrthoDB5308
GeneTree (enSembl)ENSG00000164093
Phylogenetic Trees/Animal Genes : TreeFamPITX2
Homologs : HomoloGenePITX2
Homology/Alignments : Family Browser (UCSC)PITX2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPITX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITX2
dbVarPITX2
ClinVarPITX2
1000_GenomesPITX2 
Exome Variant ServerPITX2
ExAC (Exome Aggregation Consortium)PITX2 (select the gene name)
Genetic variants : HAPMAP5308
Genomic Variants (DGV)PITX2 [DGVbeta]
Mutations
ICGC Data PortalPITX2 
TCGA Data PortalPITX2 
Broad Tumor PortalPITX2
OASIS PortalPITX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITX2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PITX2
DgiDB (Drug Gene Interaction Database)PITX2
DoCM (Curated mutations)PITX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITX2 (select a term)
intoGenPITX2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:111538580-111544254  ENSG00000164093
CONAN: Copy Number AnalysisPITX2 
Mutations and Diseases : HGMDPITX2
OMIM137600    180500    180550    601542    604229   
MedgenPITX2
Genetic Testing Registry PITX2
NextProtQ99697 [Medical]
TSGene5308
GENETestsPITX2
Huge Navigator PITX2 [HugePedia]
snp3D : Map Gene to Disease5308
BioCentury BCIQPITX2
ClinGenPITX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5308
Chemical/Pharm GKB GenePA33339
Clinical trialPITX2
Miscellaneous
canSAR (ICR)PITX2 (select the gene name)
Probes
Litterature
PubMed144 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITX2
EVEXPITX2
GoPubMedPITX2
iHOPPITX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:07:11 CEST 2016

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