| Gene ID | 5308 |
| Symbol | PITX2 |
| Synonymous | ARP1|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|Otlx2|PTX2|RGS|RIEG|RIEG1|RS |
| Full name | paired-like homeodomain 2 |
| Gene description | ALL1-responsive protein ARP1|all1-responsive gene 1|homeobox protein PITX2|paired-like homeodomain transcription factor 2|pituitary homeobox 2|rieg bicoid-related homeobox transcription factor 1|solurshin |
| Cytoband | 4q25 |
| Gene type | protein-coding |
| Synonymous | MIM:601542; HGNC:HGNC:9005; Ensembl:ENSG00000164093; HPRD:03328; Vega:OTTHUMG00000132837 |
Pathways and Diseases | Detail |
|---|---|
Pathway | TGF-beta signaling pathway;KEGG PATHWAY;hsa04350 |
Pathway | Regulation of Wnt-mediated beta catenin signaling and target gene transcription;PID Curated;200106 |
Pathway | multi-step regulation of transcription by pitx2;PID BioCarta;100074 |
Disease | Atrial Fibrillation;GAD |
Disease | Axenfeld-Rieger syndrome, type 1;OMIM |
Disease | VISION;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | Atrial fibrillation/atrial flutter;GAD |
Disease | Peters anomaly;OMIM |
Disease | Iridogoniodysgenesis, type 2;OMIM |
Disease | Corneal disease;FunDO |
Disease | Atrial fibrillation/atrial flutter;NHGRI |
Disease | Rabies;FunDO |
Disease | Peters' anomaly;GAD |
Disease | Rieger syndrome;GAD |
Disease | Atrial fibrillation;NHGRI |
Disease | Ring dermoid of cornea;OMIM |
Disease | Glaucoma;FunDO |
Sequence Information | |
|---|---|
Nucleotide Sequence | >5308 : length: 3482 GCAGTCTGTGTAAGTTTTCATATCTCTGAGTGTGTGCACACAGTGGAGAGGGTGGAGCCTGCCATCCTCAAATCTGAAAAGATTGAGAGATTTCAGAGGGCCCAGATGTGCCAAAGGTCA GAGGGATCAATATACAGGCCCTACCACGGAAAGGCGGGGAAAAGGTTCGAATAGAAAACTGCTGCAGAAGGGAAGCCACTGAGAGGAGCAAATGTGGACTTGAGGGAAACTCTCTCCCCC ACCCCCACTTCTATCCCGTGCAATTTAATACCATCCTCGCCAGGAACCTTAACCTCGTCATTTTAAAAAATGAGATATCCGTGACCCAGGGTGAACTTGTTGAATGTAGGTACAGCAGAG GAAATTCTAGACTCTATGAGCGTCTGAGCCTTGTCCAGTGCAAACCCTTCGTGAACACTGGGTCAGTGCGTGGCCGTGCCCACCTGTGCGCCGACACTCTCAGCATGCCTGGTCCACCCG CCTTGACCTCGGGCGCGGTGTCCCAGCTAAGCTGGGCCCAGCGTCCCGGCCTTCCCCAGCTGACAAGCCTAGCTCGTTCGCTCCCGGCTGTGGCCCTCCCACCCTCTCCCACTAGCTCAC TCCATTCTTCTAGATTTCTCTTCACTCATCCTCTCCCATCCCCACCGCGCCCACCTCCACTCCCGCCCTCTACCGGTCTCTCACTTTCCTCCCTCCGCAGTCCCTCTTTGCTGTGACCTC TTTCCTCAACTCTGCAGGCCTGAAAGAAGGTCACACACGCACGCTCACACCCACACTCCACACGCCTCGTCCCAAACAACCCCATGAACATTGTCCTTTGTTCCGTCTCTTGGGCCACTT TCCCTGTCGCTTCCTCCCAGCCCGTCCTGATTTGCTCCCCAAAAGTACGTTTCTGTCTCCCCGCTGCCCTGGCGCTCCCCCTTTGATTTATTAGGGCTGCCGGGTTGGCGCAGATTGCTT TTTCTTCTCTTCCATCCCATCCTCCCTTCTGGTCCTCCTTTCCACAGTGGGAGTCCGTGCTCCTGCTCCTCGGTTGGCTCCTAAGTGCCCCGCCAGGTCCCCTCTCCTTTCGCTCTCCCG GCTCCGGCTCCCGACTCTTCGGCCCGCTGGCATCTGCTTCCCTCCCCTGCCTCGTTTCTCGTCGCCCCTGCTCGCTCCCCCCGGCGCTCGCCCGGGCGCTGTGCTCGCTCCTGGATCGCC AGCCGCGCAGCCGGGCTCGGCCGGCCGCCCGCGCGCCACTGTGCAGTGGAGTTTGGTGGAATCTCTGCTGACGTCACGTCACTCCCCACACGGAGTAGGAGCAGAGGGAAGAGAGAGGGA TGAGAGGGAGGGAGAGGAGAGAGAGTGCGAGACCGAGCGAGAAAGCTGGAGAGGAGCAGAAAGAAACTGCCAGTGGCGGCTAGATTTCGGAGGCCCCAGTGCACCCGTGGACTCCTTCGG AACTTGGCACCCTCAGGAGCCCTGCAGTCCTCTCAGGCCCGGCTTTCGGGCGCTTGCCGTGCAGCCGGAGGCTCGGCTCGCTGGAAATCGCCCCGGGAAGCAGTGGGACGCGGAGACAGC AGCTCTCTCCCGGTAGCCGAATCACTAAATCTGGAGCCGCCAAACTGCTACTTCTGGGCCCACGGGCCCACAAGGATCGAATCGGCAGAGTCCCCGCCCGCGTTCTCGCTAGCGGGTGGG GGAACCGCCTGGCCGTCCCCACCCTGGATCCCCACGCCACAGCGCCGGGCAGCCCCTCCTGTAGGCAGCGACCTTGGCCAGAGGCTCCCCAGGGCCCAGCTCCCTTCAGGAGAGGCCGAG ACGCAGGGAAACGATAACGGGGAATGGAGACCAACTGCCGCAAACTGGTGTCGGCGTGTGTGCAATTAGGCGTGCAGCCGGCGGCCGTTGAATGTCTCTTCTCCAAAGACTCCGAAATCA AAAAGGTCGAGTTCACGGACTCTCCTGAGAGCCGAAAAGAGGCAGCCAGCAGCAAGTTCTTCCCGCGGCAGCATCCTGGCGCCAATGAGAAAGATAAAAGCCAGCAGGGGAAGAATGAGG ACGTGGGCGCCGAGGACCCGTCTAAGAAGAAGCGGCAAAGGCGGCAGCGGACTCACTTTACCAGCCAGCAGCTCCAGGAGCTGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGT CCACACGCGAAGAAATCGCTGTGTGGACCAACCTTACGGAAGCCCGAGTCCGGGTTTGGTTCAAGAATCGTCGGGCCAAATGGAGAAAGAGGGAGCGCAACCAGCAGGCCGAGCTATGCA AGAATGGCTTCGGGCCGCAGTTCAATGGGCTCATGCAGCCCTACGACGACATGTACCCAGGCTATTCCTACAACAACTGGGCCGCCAAGGGCCTTACATCCGCCTCCCTATCCACCAAGA GCTTCCCCTTCTTCAACTCTATGAACGTCAACCCCCTGTCATCACAGAGCATGTTTTCCCCACCCAACTCTATCTCGTCCATGAGCATGTCGTCCAGCATGGTGCCCTCAGCAGTGACAG GCGTCCCGGGCTCCAGTCTCAACAGCCTGAATAACTTGAACAACCTGAGTAGCCCGTCGCTGAATTCCGCGGTGCCGACGCCTGCCTGTCCTTACGCGCCGCCGACTCCTCCGTATGTTT ATAGGGACACGTGTAACTCGAGCCTGGCCAGCCTGAGACTGAAAGCAAAGCAGCACTCCAGCTTCGGCTACGCCAGCGTGCAGAACCCGGCCTCCAACCTGAGTGCTTGCCAGTATGCAG TGGACCGGCCCGTGTGAGCCGCACCCACAGCGCCGGGATCCTAGGACCTTGCCGGATGGGGCAACTCCGCCCTTGAAAGACTGGGAATTATGCTAGAAGGTCGTGGGCACTAAAGAAAGG GAGAGAAAGAGAAGCTATATAGAGAAAAGGAAACCACTGAATCAAAGAGAGAGCTCCTTTGATTTCAAAGGGATGTCCTCAGTGTCTGACATCTTTCACTACAAGTATTTCTAACAGTTG CAAGGACACATACACAAACAAATGTTTGACTGGATATGACATTTTAACATTACTATAAGCTTGTTATTTTTTAAGTTTAGCATTGTTAACATTTAAATGACTGAAAGGATGTATATATAT CGAAATGTCAAATTAATTTTATAAAAGCAGTTGTTAGTAATATCACAACAGTGTTTTTAAAGGTTAGGCTTTAAAATAAAGCATGTTATACAGAAGCGATTAGGATTTTTCGCTTGCGAG CAAGGGAGTGTATATACTAAATGCCACACTGTATGTTTCTAACATATTATTATTATTATAAAAAATGTGTGAATATCAGTTTTAGAATAGTTTCTCTGGTGGATGCAATGATGTTTCTGA AACTGCTATGTACAACCTACCCTGTGTATAACATTTCGTACAATATTATTGTTTTACTTTTCAGCAAATATGAAACAAATGTGTTTTATTTCATGGGAGTAAAATATACTGCATACAAAA AA |
Protein Sequence | >5308 : length: 324 MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQPRSLDSSKHRLEVHTISDTSSPEAAEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMS TREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTG VPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV |