| 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] ENSG00000164093 [Sequence] chr4:110617424-110642123 [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 - chr4:110617424-110642123 - 4q25 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | PITX2 - 4q25 [Description] (hg19-Feb_2009) |
| GoldenPath | PITX2 - 4q25 [CytoView hg19] PITX2 - 4q25 [CytoView hg38] |
| ImmunoBase | ENSG00000164093 |
| Mapping of homologs : NCBI | PITX2 [Mapview hg19] PITX2 [Mapview hg38] |
| OMIM | 137600 180500 180550 601542 |
| 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] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 5308 |
| GTEX Portal (Tissue expression) | PITX2 |
| Human Protein Atlas | ENSG00000164093-PITX2 [pathology] [cell] [tissue] |
| 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_sf 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 (RSDB) | 2L7F 2L7M 2LKX |
| PDB Europe | 2L7F 2L7M 2LKX |
| PDB (PDBSum) | 2L7F 2L7M 2LKX |
| PDB (IMB) | 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 [tissue] | ENSG00000164093-PITX2 [tissue] |
| 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 proximal promoter 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 factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription factor binding RNA polymerase II activating transcription factor binding cardiac neural crest cell migration involved in outflow tract morphogenesis DNA-binding transcription factor activity protein binding nucleus nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II determination of left/right symmetry transcription factor binding anatomical structure morphogenesis hair cell differentiation deltoid tuberosity development odontogenesis camera-type eye development sequence-specific DNA binding positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II spleen development somatotropin secreting cell differentiation prolactin secreting cell differentiation iris morphogenesis cell proliferation involved in outflow tract morphogenesis left/right axis specification |
| Ontology : EGO-EBI | transcription regulatory region sequence-specific DNA binding RNA polymerase II proximal promoter 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 factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription factor binding RNA polymerase II activating transcription factor binding cardiac neural crest cell migration involved in outflow tract morphogenesis DNA-binding transcription factor activity protein binding nucleus nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II determination of left/right symmetry transcription factor binding anatomical structure morphogenesis hair cell differentiation deltoid tuberosity development odontogenesis camera-type eye development sequence-specific DNA binding positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II spleen development somatotropin secreting cell differentiation prolactin secreting cell differentiation iris morphogenesis cell proliferation involved in outflow tract morphogenesis left/right axis specification |
| 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 |
| HOGENOM | Q99697 |
| Homologs : HomoloGene | PITX2 |
| Homology/Alignments : Family Browser (UCSC) | PITX2 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Quiver | PITX2 |
| 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) | ENSG00000164093 |
| GNOMAD Browser | ENSG00000164093 |
| Varsome Browser | PITX2 |
| 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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 137600 180500 180550 601542 |
| Orphanet | 2590 3485 3485 8592 12147 12148 13995 |
| DisGeNET | PITX2 |
| 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) |
| DataMed Index | PITX2 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 174 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | PITX2 |
| EVEX | PITX2 |
| GoPubMed | PITX2 |
| iHOP | PITX2 |
