| Nomenclature |
|---|
| HGNC (Hugo) | PITX2 9005 |
| Cards |
|---|
| Entrez_Gene (NCBI) | PITX2 5308 paired like homeodomain 2 |
| Aliases | ARP1; ASGD4; Brx1; IDG2; |
| IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS |
| GeneCards (Weizmann) | PITX2 |
| Ensembl hg19 (Hinxton) | ENSG00000164093 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000164093 [Gene_View] chr4:110617424-110623098 [Contig_View] PITX2 [Vega] |
| ICGC DataPortal | ENSG00000164093 |
| TCGA cBioPortal | PITX2 |
| AceView (NCBI) | PITX2 |
| Genatlas (Paris) | PITX2 |
| WikiGenes | 5308 |
| SOURCE (Princeton) | PITX2 |
| Genetics Home Reference (NIH) | PITX2 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | PITX2 - chr4:110617424-110623098 - 4q25 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | PITX2 - 4q25 [Description] (hg19-Feb_2009) |
| 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) | |
| Consensus coding sequences : CCDS (NCBI) | PITX2 |
| Cluster EST : Unigene | Hs.738484 [ NCBI ] |
| CGAP (NCI) | Hs.738484 |
| Alternative Splicing Gallery | ENSG00000164093 |
| Gene Expression | PITX2 [ 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] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 5308 |
| GTEX Portal (Tissue expression) | PITX2 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q99697 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q99697 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q99697 |
| Splice isoforms : SwissVar | Q99697 |
| PhosPhoSitePlus | Q99697 |
| Domaine pattern : Prosite (Expaxy) | HOMEOBOX_1 (PS00027) HOMEOBOX_2 (PS50071) OAR (PS50803) |
| Domains : Interpro (EBI) | Homeobox-like Homeobox_CS Homeobox_dom Homeobox_Pitx/unc30 OAR_dom |
| Domain families : Pfam (Sanger) | Homeobox (PF00046) OAR (PF03826) |
| Domain families : Pfam (NCBI) | pfam00046 pfam03826 |
| Domain families : Smart (EMBL) | HOX (SM00389) |
| Conserved Domain (NCBI) | PITX2 |
| DMDM Disease mutations | 5308 |
| 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 KnowledgeBase | 2L7F 2L7M 2LKX |
| SCOP (Structural Classification of Proteins) | 2L7F 2L7M 2LKX |
| CATH (Classification of proteins structures) | 2L7F 2L7M 2LKX |
| Superfamily | Q99697 |
| 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 |
| STRING (EMBL) | PITX2 |
| ZODIAC | PITX2 |
| Ontologies - Pathways |
|---|
| QuickGO | Q99697 |
| Ontology : AmiGO | 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 RNA polymerase II activating transcription factor binding RNA polymerase II transcription coactivator activity branching involved in blood vessel morphogenesis 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 nucleoplasm 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 camera-type eye development positive regulation of DNA binding positive regulation of transcription from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter spleen development embryonic digestive tract morphogenesis 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 | 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 RNA polymerase II activating transcription factor binding RNA polymerase II transcription coactivator activity branching involved in blood vessel morphogenesis 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 nucleoplasm 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 camera-type eye development positive regulation of DNA binding positive regulation of transcription from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter spleen development embryonic digestive tract morphogenesis 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 |
| NDEx Network | PITX2 |
| Atlas of Cancer Signalling Network | PITX2 |
| Wikipedia pathways | PITX2 |
| Orthology - Evolution |
|---|
| OrthoDB | 5308 |
| GeneTree (enSembl) | ENSG00000164093 |
| Phylogenetic Trees/Animal Genes : TreeFam | PITX2 |
| HOVERGEN | Q99697 |
| HOGENOM | Q99697 |
| Homologs : HomoloGene | PITX2 |
| Homology/Alignments : Family Browser (UCSC) | PITX2 |
| Gene fusions - Rearrangements |
|---|
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | PITX2 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | PITX2 |
| dbVar | PITX2 |
| ClinVar | PITX2 |
| 1000_Genomes | PITX2 |
| Exome Variant Server | PITX2 |
| ExAC (Exome Aggregation Consortium) | PITX2 (select the gene name) |
| Genetic variants : HAPMAP | 5308 |
| Genomic Variants (DGV) | PITX2 [DGVbeta] |
| DECIPHER | PITX2 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | PITX2 |
| Mutations |
|---|
| ICGC Data Portal | PITX2 |
| TCGA Data Portal | PITX2 |
| Broad Tumor Portal | PITX2 |
| OASIS Portal | PITX2 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | PITX2 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | 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 |
| BioMuta | search 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) |
| intoGen | PITX2 |
| Cancer3D | PITX2(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 137600 180500 180550 601542 604229 |
| Orphanet | 2590 3485 3485 8592 12147 12148 13995 |
| Medgen | PITX2 |
| Genetic Testing Registry | PITX2
|
| NextProt | Q99697 [Medical] |
| TSGene | 5308 |
| GENETests | PITX2 |
| Target Validation | PITX2 |
| Huge Navigator |
PITX2 [HugePedia] |
| snp3D : Map Gene to Disease | 5308 |
| BioCentury BCIQ | PITX2 |
| ClinGen | PITX2 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 5308 |
| Chemical/Pharm GKB Gene | PA33339 |
| Clinical trial | PITX2 |
| Miscellaneous |
|---|
| canSAR (ICR) | PITX2 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 155 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | PITX2 |
| EVEX | PITX2 |
| GoPubMed | PITX2 |
| iHOP | PITX2 |
