| Nomenclature |
|---|
| HGNC (Hugo) | PITX2 9005 |
| Cards |
|---|
| Entrez_Gene (NCBI) | PITX2 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 |
| 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 |
| Genome Data Viewer NCBI | PITX2 [Mapview hg19] |
| 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 |
| Consensus coding sequences : CCDS (NCBI) | PITX2 |
| Gene Expression | PITX2 [ NCBI-GEO ] PITX2 [ EBI - ARRAY_EXPRESS ]
PITX2 [ SEEK ] PITX2 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | PITX2 [ Firebrowse - Broad ] |
| Genevisible | Expression of PITX2 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 |
| 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) | Homeodomain (PF00046) OAR (PF03826) |
| Domain families : Pfam (NCBI) | pfam00046 pfam03826 |
| Domain families : Smart (EMBL) | HOX (SM00389) |
| Conserved Domain (NCBI) | 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 |
| AlphaFold pdb e-kb | Q99697 |
| Human Protein Atlas [tissue] | ENSG00000164093-PITX2 [tissue] |
| HPRD | 03328 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q99697 |
| IntAct (EBI) | Q99697 |
| BioGRID | PITX2 |
| STRING (EMBL) | PITX2 |
| ZODIAC | PITX2 |
| Ontologies - Pathways |
|---|
| QuickGO | Q99697 |
| Ontology : AmiGO | chromatin transcription cis-regulatory region binding RNA polymerase II cis-regulatory region 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 cardiac neural crest cell migration involved in outflow tract morphogenesis DNA-binding transcription factor activity protein binding nucleus nucleus nucleoplasm nucleoplasm transcription regulator complex regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II determination of left/right symmetry anatomical structure morphogenesis hair cell differentiation deltoid tuberosity development odontogenesis camera-type eye development 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 embryonic heart tube left/right pattern formation iris morphogenesis cell proliferation involved in outflow tract morphogenesis RNA polymerase II-specific DNA-binding transcription factor binding left/right axis specification sequence-specific double-stranded DNA binding |
| Ontology : EGO-EBI | chromatin transcription cis-regulatory region binding RNA polymerase II cis-regulatory region 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 cardiac neural crest cell migration involved in outflow tract morphogenesis DNA-binding transcription factor activity protein binding nucleus nucleus nucleoplasm nucleoplasm transcription regulator complex regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II determination of left/right symmetry anatomical structure morphogenesis hair cell differentiation deltoid tuberosity development odontogenesis camera-type eye development 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 embryonic heart tube left/right pattern formation iris morphogenesis cell proliferation involved in outflow tract morphogenesis RNA polymerase II-specific DNA-binding transcription factor binding left/right axis specification sequence-specific double-stranded DNA binding |
| 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 |
| 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 |
| Monarch | PITX2 |
| 1000_Genomes | PITX2 |
| Exome Variant Server | PITX2 |
| GNOMAD Browser | ENSG00000164093 |
| Varsome Browser | PITX2 |
| ACMG | PITX2 variants |
| Varity | Q99697 |
| 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] |
| Somatic Mutations in Cancer : COSMIC3D | PITX2 |
| Mutations and Diseases : HGMD | PITX2 |
| LOVD (Leiden Open Variation Database) | [gene] [transcripts] [variants] |
| BioMuta | PITX2 |
| DgiDB (Drug Gene Interaction Database) | PITX2 |
| DoCM (Curated mutations) | PITX2 |
| CIViC (Clinical Interpretations of Variants in Cancer) | PITX2 |
| Cancer3D | PITX2 |
| 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] |
| GENETests | PITX2 |
| Target Validation | PITX2 |
| Huge Navigator |
PITX2 [HugePedia] |
| ClinGen | PITX2 (curated) |
| Clinical trials, drugs, therapy |
|---|
| MyCancerGenome | PITX2 |
| Protein Interactions : CTD | PITX2 |
| Pharm GKB Gene | PA33339 |
| Pharos | Q99697 |
| Clinical trial | PITX2 |
| Miscellaneous |
|---|
| canSAR (ICR) | PITX2 |
| Harmonizome | PITX2 |
| DataMed Index | PITX2 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 198 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| EVEX | PITX2 |
