PITX2 (paired-like homeodomain 2)

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

PITX2 (paired-like homeodomain 2)

Identity

Other names	ARP1
	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 DataPortal	ENSG00000164093
cBioPortal	PITX2
AceView (NCBI)	PITX2
Genatlas (Paris)	PITX2
WikiGenes	5308
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)
Ensembl	PITX2 - 4q25 [CytoView hg19] PITX2 - 4q25 [CytoView hg38]
Mapping of homologs : NCBI	PITX2 [Mapview hg19] PITX2 [Mapview hg38]
OMIM	137600 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 : Unigene	Hs.738484 [ NCBI ]
CGAP (NCI)	Hs.738484
Alternative Splicing : Fast-db (Paris)	GSHG0023474
Alternative Splicing Gallery	ENSG00000164093
Gene Expression	PITX2 [ NCBI-GEO ] PITX2 [ SEEK ] PITX2 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q99697 (Uniprot)
NextProt	Q99697 [Medical]
With graphics : InterPro	Q99697
Splice isoforms : SwissVar	Q99697 (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 : CluSTr	Q99697
Domain families : Pfam (Sanger)	Homeobox (PF00046) OAR (PF03826)
Domain families : Pfam (NCBI)	pfam00046 pfam03826
Domain families : Smart (EMBL)	HOX (SM00389)
DMDM Disease mutations	5308
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 Atlas	ENSG00000164093
Peptide Atlas	Q99697
HPRD	03328
IPI	IPI00017093 IPI00220801 IPI00220802 IPI01025655 IPI00791415 IPI00968016 IPI00967695
	Protein Interaction databases
DIP (DOE-UCLA)	Q99697
IntAct (EBI)	Q99697
FunCoup	ENSG00000164093
BioGRID	PITX2
IntegromeDB	PITX2
STRING (EMBL)	PITX2
	Ontologies - Pathways
QuickGO	Q99697
Ontology : AmiGO	negative 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-EBI	negative 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 : BIOCARTA	Multi-step Regulation of Transcription by Pitx2 [Genes]
Pathways : KEGG	TGF-beta signaling pathway
Protein Interaction Database	PITX2
DoCM (Curated mutations)	PITX2
Wikipedia pathways	PITX2
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	PITX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	PITX2
dbVar	PITX2
ClinVar	PITX2
1000_Genomes	PITX2
Exome Variant Server	PITX2
SNP (GeneSNP Utah)	PITX2
SNP : HGBase	PITX2
Genetic variants : HAPMAP	PITX2
Genomic Variants (DGV)	PITX2 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000164093
Somatic Mutations in Cancer : COSMIC	PITX2
CONAN: Copy Number Analysis	PITX2
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 : HGMD	PITX2
OMIM	137600 180500 180550 601542 604229
Medgen	PITX2
NextProt	Q99697 [Medical]
GENETests	PITX2
Disease Genetic Association	PITX2
Huge Navigator	PITX2 [HugePedia] PITX2 [HugeCancerGEM]
snp3D : Map Gene to Disease	5308
DGIdb (Drug Gene Interaction db)	PITX2
	General knowledge
Homologs : HomoloGene	PITX2
Homology/Alignments : Family Browser (UCSC)	PITX2
Phylogenetic Trees/Animal Genes : TreeFam	PITX2
Chemical/Protein Interactions : CTD	5308
Chemical/Pharm GKB Gene	PA33339
Clinical trial	PITX2
Cancer Resource (Charite)	ENSG00000164093
	Other databases
	Probes
	Litterature
PubMed	118 Pubmed reference(s) in Entrez
CoreMine	PITX2
GoPubMed	PITX2
iHOP	PITX2

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 18:00:12 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.