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mutLBSgeneDB |
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| Gene summary for PITX2 |
 Gene summary |
| Basic gene Info. | Gene symbol | PITX2 |
| Gene name | paired-like homeodomain 2 | |
| Synonyms | ARP1|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|Otlx2|PTX2|RGS|RIEG|RIEG1|RS | |
| Cytomap | UCSC genome browser: 4q25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000325.5, NM_001204397.1,NM_001204398.1,NM_001204399.1,NM_153426.2, NM_153427.2, | |
| Description | ALL1-responsive protein ARP1all1-responsive gene 1homeobox protein PITX2paired-like homeodomain transcription factor 2pituitary homeobox 2rieg bicoid-related homeobox transcription factor 1solurshin | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 601542 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164093 | ||
| HPRD : 03328 | ||
| Vega : OTTHUMG00000132837 | ||
| Protein | UniProt: Q99697 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PITX2 | |
| BioGPS: 5308 | ||
| Pathway | NCI Pathway Interaction Database: PITX2 | |
| KEGG: PITX2 | ||
| REACTOME: PITX2 | ||
| Pathway Commons: PITX2 | ||
| Context | iHOP: PITX2 | |
| ligand binding site mutation search in PubMed: PITX2 | ||
| UCL Cancer Institute: PITX2 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for PITX2. | 1. Doerdelmann, T., Kojetin, D. J., Baird-Titus, J. M., Solt, L. A., Burris, T. P., & Rance, M. (2012). Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant. Biochemistry, 51(2), 665-676. 22224469 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 16449236 | GO:0006355 | regulation of transcription, DNA-templated | 15385555 | GO:0006357 | regulation of transcription from RNA polymerase II promoter | 23975681 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 15466416 |
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| Ligand binding site mutations for PITX2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y109,D111 | P110L | LUAD | 1 | R137 | R137W | SKCM | 1 | R115 | E116K | SKCM | 1 | F92 | T93I | SKCM | 1 | R136 | R136C | STAD | 1 | R115 | E116K | STAD | 1 | R115 | E117Q | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for PITX2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R115 | E117Q | -1.4939167 | R137 | R137W | -1.1512772 | Y109 | P110L | -0.88902937 | D111 | P110L | -0.88902937 | R136 | R136C | -0.6553037 | R115 | E116K | -0.51539109 | F92 | T93I | -0.45132911 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for PITX2 from PDB |
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| Differential gene expression and gene-gene network for PITX2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for PITX2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3714873 | AXENFELD-RIEGER SYNDROME, TYPE 1 | 5 | Biomarker, GeneticVariation |
| umls:C1842031 | Iridogoniodysgenesis, dominant type | 3 | Biomarker, GeneticVariation |
| umls:C0376634 | Craniofacial Abnormalities | 2 | Biomarker |
| umls:C0344559 | Peters anomaly | 1 | Biomarker, GeneticVariation |
| umls:C0018798 | Heart Defects, Congenital | 1 | Biomarker |
| umls:C0040427 | Tooth Abnormalities | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PITX2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PITX2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PITX2 |
| Multiple alignments for Q99697 in multiple species |
| LBS | AA sequence | # species | Species | D111 | RNRYPDMSTRE | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | F92 | RQRTHFTSQQL | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | K134 | VRVWFKNRRAK | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | K139 | KNRRAKWRKRE | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | M112 | NRYPDMSTREE | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | N135 | RVWFKNRRAKW | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | Q88 | KRQRRQRTHFT | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | R115 | PDMSTREEIAV | 5 | Homo sapiens, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | R115 | PDMSTREEIAM | 1 | Drosophila melanogaster | R136 | VWFKNRRAKWR | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | R137 | WFKNRRAKWRK | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | R86 | KKKRQRRQRTH | 5 | Homo sapiens, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | R86 | KNKRQRRQRTH | 1 | Drosophila melanogaster | R87 | KKRQRRQRTHF | 5 | Homo sapiens, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | R87 | NKRQRRQRTHF | 1 | Drosophila melanogaster | R89 | RQRRQRTHFTS | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | T90 | QRRQRTHFTSQ | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | V131 | EARVRVWFKNR | 6 | Homo sapiens, Drosophila melanogaster, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | Y109 | FQRNRYPDMST | 5 | Homo sapiens, Mus musculus, Danio rerio, Rattus norvegicus, Gallus gallus | Y109 | FSRNRYPDMST | 1 | Drosophila melanogaster |
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