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
Location 4q25
Location_base_pair Starts at 111538580 and ends at 111544254 bp from pter ( according to hg19-Feb_2009)
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
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
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)AC_000136 NC_000004 NC_018915 NG_007120 NT_016354 NW_001838915 NW_004929320
Consensus coding sequences : CCDS (NCBI)PITX2
Cluster EST : UnigeneHs.738484 [ NCBI ]
CGAP (NCI)Hs.738484
Alternative Splicing : Fast-db (Paris)GSHG0023474
Alternative Splicing GalleryENSG00000164093
Gene ExpressionPITX2 [ NCBI-GEO ]     PITX2 [ SEEK ]   PITX2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99697 (Uniprot)
NextProtQ99697  [Medical]
With graphics : InterProQ99697
Splice isoforms : SwissVarQ99697 (Swissvar)
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   
Related proteins : CluSTrQ99697
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)Q99697
PDB (SRS)2L7F    2L7M    2LKX   
PDB (PDBSum)2L7F    2L7M    2LKX   
PDB (IMB)2L7F    2L7M    2LKX   
PDB (RSDB)2L7F    2L7M    2LKX   
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
IntegromeDBPITX2
STRING (EMBL)PITX2
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  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription  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  sequence-specific DNA binding transcription factor activity  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  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  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription  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  sequence-specific DNA binding transcription factor activity  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  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   
Protein Interaction DatabasePITX2
DoCM (Curated mutations)PITX2
Wikipedia pathwaysPITX2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPITX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITX2
dbVarPITX2
ClinVarPITX2
1000_GenomesPITX2 
Exome Variant ServerPITX2
SNP (GeneSNP Utah)PITX2
SNP : HGBasePITX2
Genetic variants : HAPMAPPITX2
Genomic VariantsPITX2  PITX2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000164093 
Somatic Mutations in Cancer : COSMICPITX2 
CONAN: Copy Number AnalysisPITX2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:111538580-111544254
Mutations and Diseases : HGMDPITX2
OMIM137600    180500    180550    601542    604229   
MedgenPITX2
NextProtQ99697 [Medical]
GENETestsPITX2
Disease Genetic AssociationPITX2
Huge Navigator PITX2 [HugePedia]  PITX2 [HugeCancerGEM]
snp3D : Map Gene to Disease5308
DGIdb (Drug Gene Interaction db)PITX2
General knowledge
Homologs : HomoloGenePITX2
Homology/Alignments : Family Browser (UCSC)PITX2
Phylogenetic Trees/Animal Genes : TreeFamPITX2
Chemical/Protein Interactions : CTD5308
Chemical/Pharm GKB GenePA33339
Clinical trialPITX2
Cancer Resource (Charite)ENSG00000164093
Other databases
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
CoreMinePITX2
GoPubMedPITX2
iHOPPITX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:50:23 CET 2014
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