| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5308 |
Name | PITX2 |
Synonym | ARP1|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|Otlx2|PTX2|RGS|RIEG|RIEG1|RS;paired-like homeodomain 2;PITX2;paired-like homeodomain 2 |
Definition | 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 |
Position | 4q25 |
Gene Type | protein-coding |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 5308 |
Links to all GeneRIF Items | 5308 |
Links to iHOP | 5308 |
Sequence Information | |
Nucleotide Sequence | >5308 : length: 3482 GCAGTCTGTGTAAGTTTTCATATCTCTGAGTGTGTGCACACAGTGGAGAGGGTGGAGCCT GCCATCCTCAAATCTGAAAAGATTGAGAGATTTCAGAGGGCCCAGATGTGCCAAAGGTCA GAGGGATCAATATACAGGCCCTACCACGGAAAGGCGGGGAAAAGGTTCGAATAGAAAACT GCTGCAGAAGGGAAGCCACTGAGAGGAGCAAATGTGGACTTGAGGGAAACTCTCTCCCCC ACCCCCACTTCTATCCCGTGCAATTTAATACCATCCTCGCCAGGAACCTTAACCTCGTCA TTTTAAAAAATGAGATATCCGTGACCCAGGGTGAACTTGTTGAATGTAGGTACAGCAGAG GAAATTCTAGACTCTATGAGCGTCTGAGCCTTGTCCAGTGCAAACCCTTCGTGAACACTG GGTCAGTGCGTGGCCGTGCCCACCTGTGCGCCGACACTCTCAGCATGCCTGGTCCACCCG CCTTGACCTCGGGCGCGGTGTCCCAGCTAAGCTGGGCCCAGCGTCCCGGCCTTCCCCAGC TGACAAGCCTAGCTCGTTCGCTCCCGGCTGTGGCCCTCCCACCCTCTCCCACTAGCTCAC TCCATTCTTCTAGATTTCTCTTCACTCATCCTCTCCCATCCCCACCGCGCCCACCTCCAC TCCCGCCCTCTACCGGTCTCTCACTTTCCTCCCTCCGCAGTCCCTCTTTGCTGTGACCTC TTTCCTCAACTCTGCAGGCCTGAAAGAAGGTCACACACGCACGCTCACACCCACACTCCA CACGCCTCGTCCCAAACAACCCCATGAACATTGTCCTTTGTTCCGTCTCTTGGGCCACTT TCCCTGTCGCTTCCTCCCAGCCCGTCCTGATTTGCTCCCCAAAAGTACGTTTCTGTCTCC CCGCTGCCCTGGCGCTCCCCCTTTGATTTATTAGGGCTGCCGGGTTGGCGCAGATTGCTT TTTCTTCTCTTCCATCCCATCCTCCCTTCTGGTCCTCCTTTCCACAGTGGGAGTCCGTGC TCCTGCTCCTCGGTTGGCTCCTAAGTGCCCCGCCAGGTCCCCTCTCCTTTCGCTCTCCCG GCTCCGGCTCCCGACTCTTCGGCCCGCTGGCATCTGCTTCCCTCCCCTGCCTCGTTTCTC GTCGCCCCTGCTCGCTCCCCCCGGCGCTCGCCCGGGCGCTGTGCTCGCTCCTGGATCGCC AGCCGCGCAGCCGGGCTCGGCCGGCCGCCCGCGCGCCACTGTGCAGTGGAGTTTGGTGGA ATCTCTGCTGACGTCACGTCACTCCCCACACGGAGTAGGAGCAGAGGGAAGAGAGAGGGA TGAGAGGGAGGGAGAGGAGAGAGAGTGCGAGACCGAGCGAGAAAGCTGGAGAGGAGCAGA AAGAAACTGCCAGTGGCGGCTAGATTTCGGAGGCCCCAGTGCACCCGTGGACTCCTTCGG AACTTGGCACCCTCAGGAGCCCTGCAGTCCTCTCAGGCCCGGCTTTCGGGCGCTTGCCGT GCAGCCGGAGGCTCGGCTCGCTGGAAATCGCCCCGGGAAGCAGTGGGACGCGGAGACAGC AGCTCTCTCCCGGTAGCCGAATCACTAAATCTGGAGCCGCCAAACTGCTACTTCTGGGCC CACGGGCCCACAAGGATCGAATCGGCAGAGTCCCCGCCCGCGTTCTCGCTAGCGGGTGGG GGAACCGCCTGGCCGTCCCCACCCTGGATCCCCACGCCACAGCGCCGGGCAGCCCCTCCT GTAGGCAGCGACCTTGGCCAGAGGCTCCCCAGGGCCCAGCTCCCTTCAGGAGAGGCCGAG ACGCAGGGAAACGATAACGGGGAATGGAGACCAACTGCCGCAAACTGGTGTCGGCGTGTG TGCAATTAGGCGTGCAGCCGGCGGCCGTTGAATGTCTCTTCTCCAAAGACTCCGAAATCA AAAAGGTCGAGTTCACGGACTCTCCTGAGAGCCGAAAAGAGGCAGCCAGCAGCAAGTTCT TCCCGCGGCAGCATCCTGGCGCCAATGAGAAAGATAAAAGCCAGCAGGGGAAGAATGAGG ACGTGGGCGCCGAGGACCCGTCTAAGAAGAAGCGGCAAAGGCGGCAGCGGACTCACTTTA CCAGCCAGCAGCTCCAGGAGCTGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGT CCACACGCGAAGAAATCGCTGTGTGGACCAACCTTACGGAAGCCCGAGTCCGGGTTTGGT TCAAGAATCGTCGGGCCAAATGGAGAAAGAGGGAGCGCAACCAGCAGGCCGAGCTATGCA AGAATGGCTTCGGGCCGCAGTTCAATGGGCTCATGCAGCCCTACGACGACATGTACCCAG GCTATTCCTACAACAACTGGGCCGCCAAGGGCCTTACATCCGCCTCCCTATCCACCAAGA GCTTCCCCTTCTTCAACTCTATGAACGTCAACCCCCTGTCATCACAGAGCATGTTTTCCC CACCCAACTCTATCTCGTCCATGAGCATGTCGTCCAGCATGGTGCCCTCAGCAGTGACAG GCGTCCCGGGCTCCAGTCTCAACAGCCTGAATAACTTGAACAACCTGAGTAGCCCGTCGC TGAATTCCGCGGTGCCGACGCCTGCCTGTCCTTACGCGCCGCCGACTCCTCCGTATGTTT ATAGGGACACGTGTAACTCGAGCCTGGCCAGCCTGAGACTGAAAGCAAAGCAGCACTCCA GCTTCGGCTACGCCAGCGTGCAGAACCCGGCCTCCAACCTGAGTGCTTGCCAGTATGCAG TGGACCGGCCCGTGTGAGCCGCACCCACAGCGCCGGGATCCTAGGACCTTGCCGGATGGG GCAACTCCGCCCTTGAAAGACTGGGAATTATGCTAGAAGGTCGTGGGCACTAAAGAAAGG GAGAGAAAGAGAAGCTATATAGAGAAAAGGAAACCACTGAATCAAAGAGAGAGCTCCTTT GATTTCAAAGGGATGTCCTCAGTGTCTGACATCTTTCACTACAAGTATTTCTAACAGTTG CAAGGACACATACACAAACAAATGTTTGACTGGATATGACATTTTAACATTACTATAAGC TTGTTATTTTTTAAGTTTAGCATTGTTAACATTTAAATGACTGAAAGGATGTATATATAT CGAAATGTCAAATTAATTTTATAAAAGCAGTTGTTAGTAATATCACAACAGTGTTTTTAA AGGTTAGGCTTTAAAATAAAGCATGTTATACAGAAGCGATTAGGATTTTTCGCTTGCGAG CAAGGGAGTGTATATACTAAATGCCACACTGTATGTTTCTAACATATTATTATTATTATA AAAAATGTGTGAATATCAGTTTTAGAATAGTTTCTCTGGTGGATGCAATGATGTTTCTGA AACTGCTATGTACAACCTACCCTGTGTATAACATTTCGTACAATATTATTGTTTTACTTT TCAGCAAATATGAAACAAATGTGTTTTATTTCATGGGAGTAAAATATACTGCATACAAAA AA |
Protein Sequence | >5308 : length: 324 MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQPRSLDSSKHRLEVHTIS DTSSPEAAEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMS TREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPG YSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTG VPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSS FGYASVQNPASNLSACQYAVDRPV |