| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5077 |
Name | PAX3 |
Synonym | CDHS|HUP2|WS1|WS3;paired box 3;PAX3;paired box 3 |
Definition | paired box homeotic gene 3|paired box protein Pax-3|paired domain gene 3|paired domain gene HuP2 |
Position | 2q35 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Regulation of retinoblastoma protein;PID Curated;200191 |
Pathway | regulation of transcriptional activity by pml;PID BioCarta;100067 |
Disease | Spinal dysraphism;FunDO |
Disease | Cancers;KEGG DISEASE |
Disease | Rhabdomyosarcoma 2, alveolar;OMIM |
Disease | Thrombophlebitis;FunDO |
Disease | Cancers of soft tissues and bone;KEGG DISEASE |
Disease | Craniofacial-deafness-hand syndrome;OMIM |
Disease | Gestational diabetes;FunDO |
Disease | Melanoma;FunDO |
Disease | Alveolar rhabdomyosarcoma;KEGG DISEASE;H00037 |
Disease | Waardenburg syndrome, type 3;OMIM |
Disease | Rhabdomyosarcoma;FunDO |
Disease | Waardenburg syndrome, type 1;OMIM |
Disease | Neoplasm metastasis;FunDO |
External Links | |
Links to Entrez Gene | 5077 |
Links to all GeneRIF Items | 5077 |
Links to iHOP | 5077 |
Sequence Information | |
Nucleotide Sequence | >5077 : length: 3359 ACTCGGTGTCACCACAGGAGGAGACTCAGGCAGGCCGCGCTCCAGCCTCACCAGGCTCCC CGGCTCGCCGTGGCTCTCTGAGCCCCCTTTTCAGGGACCCCAGTCGCTGGAACATTTGCC CAGACTCGTACCAAACTTTTCCGCCCTGGGCTCGGGATCCTGGACTCCGGGGCCTCCCCG TCCTCCCCTTTCCCGGGTTCCAGCTCCGGCCTCTGGACTAGGAACCGACAGCCCCCCTCC CCGCGTCCCTCCCTCTCTCTCCAGCCGTTTTGGGGAGGGGCTCTCCACGCTCCGGATAGT TCCCGAGGGTCATCCGCGCCGCACTCGCCTTTCCGTTTCGCCTTCACCTGGATATAATTT CCGAGCGAAGCTGCCCCCAGGATGACCACGCTGGCCGGCGCTGTGCCCAGGATGATGCGG CCGGGCCCGGGGCAGAACTACCCGCGTAGCGGGTTCCCGCTGGAAGTGTCCACTCCCCTC GGCCAGGGCCGCGTCAACCAGCTCGGCGGTGTTTTTATCAACGGCAGGCCGCTGCCCAAC CACATCCGCCACAAGATCGTGGAGATGGCCCACCACGGCATCCGGCCCTGCGTCATCTCG CGCCAGCTGCGCGTGTCCCACGGCTGCGTCTCCAAGATCCTGTGCAGGTACCAGGAGACT GGCTCCATACGTCCTGGTGCCATCGGCGGCAGCAAGCCCAAGCAGGTGACAACGCCTGAC GTGGAGAAGAAAATTGAGGAATACAAAAGAGAGAACCCGGGCATGTTCAGCTGGGAAATC CGAGACAAATTACTCAAGGACGCGGTCTGTGATCGAAACACCGTGCCGTCAGTGAGTTCC ATCAGCCGCATCCTGAGAAGTAAATTCGGGAAAGGTGAAGAGGAGGAGGCCGACTTGGAG AGGAAGGAGGCAGAGGAAAGCGAGAAGAAGGCCAAACACAGCATCGACGGCATCCTGAGC GAGCGAGCCTCAGCACCCCAATCAGATGAAGGCTCTGATATTGACTCTGAACCAGATTTA CCACTAAAGAGGAAACAGCGCAGAAGCCGAACCACCTTCACAGCAGAACAGCTGGAGGAA CTGGAGCGTGCTTTTGAGAGAACTCATTACCCTGACATTTATACTAGGGAGGAACTGGCC CAGAGGGCGAAGCTCACCGAGGCCCGAGTACAGGTCTGGTTTAGCAACCGCCGTGCAAGA TGGAGGAAGCAAGCTGGGGCCAATCAACTGATGGCTTTCAACCATCTCATTCCCGGGGGG TTCCCTCCCACTGCCATGCCGACCTTGCCAACGTACCAGCTGTCGGAGACCTCTTACCAG CCCACATCTATTCCACAAGCTGTGTCAGATCCCAGCAGCACCGTTCACAGACCTCAACCG CTTCCTCCAAGCACTGTACACCAAAGCACGATTCCTTCCAACCCAGACAGCAGCTCTGCC TACTGCCTCCCCAGCACCAGGCATGGATTTTCCAGCTATACAGACAGCTTTGTGCCTCCG TCGGGGCCCTCCAACCCCATGAACCCCACCATTGGCAATGGCCTCTCACCTCAGGTAATG GGACTCCTGACCAACCACGGTGGGGTACCTCATCAGCCCCAGACTGATTACGCGCTCTCC CCTCTCACCGGGGGTCTGGAACCTACCACCACGGTGTCGGCCAGCTGCAGTCAGAGACTA GACCATATGAAGAGCTTGGACAGTCTGCCAACATCTCAGTCCTACTGTCCACCCACCTAT AGCACCACAGGCTACAGTATGGACCCTGTCACAGGCTACCAATATGGGCAGTATGGACAA AGTGCCTTTCATTATCTCAAGCCAGATATCGCGTAAGTGAACTGTCCACTTGGAGCTAAA ACTGGCCCTGTTTCTGGTCTTCGCAGCCTAGATATGAAGAATCTGCTCTGAAAACAAAAA AAAATTACCCTTTTGTTGGGGGGGGTGGGGCAGTGGTCCCAATAGGAGACAAAGGAGAGT GATTGATTTTCTTCCTCCAATAGTTGGTTTCAAATCCTTTTGAACACGTTCGACAAAAGC AGTGGAGAAGAGGAAGACCTGGAGCAATAAAAGACAAATGCAACATTTTAAGGCAATGGT TTCACATGGTTACATATCAAAACATCCCAATTCTTTAGTGCTGATCATCGAGGAGCTAGA ACATTCCATTTGCTTGTGTGCGTGCGTGCGTGTGTGTGTGTGTGTGTGTATTGAGATTTA CCCAGACTGGTTTGGGCAAGCAGACTGTTCTAAAATATAATAGAATACCCTAAAGTATAA CATGTCGATGTTCGATGCTGATACTTCTACAACTTTAAAACTGCTCATTTCATGAAGCAA GAATGGAGGAATCCTTGACTCTTACACACTGGAAATTGAAATAAAGATAAATGCAACCAT TTTTAGGAAGCTAGACTAGCTGTAAAGGACCTCCTAAATAAATTATTTGTTACTGTATCC TCATTTGTAATCTAGTTGTCAATAAATGGCCCGGACATGTCTTGCTAACAGGATATGGGC TACCAGGAAGAAGGACTTGTTTCCCTTTCCTGTGTGGGGAGAGGTGTGTGACGTTTTTCC AGTTCACATTTATTTGGTAGCCCACCTGGGTTGGAGGAAGGGCACGGTGGAGAGAAAGTG ACATGCATTCACATATCTGCTTATCAGTGTGCAATACTGTGTACCTCATGGATGCTTTGG CAATGCCCAAGGCGATATAAGCAAAATCAGAAGTATATTTTTGCAGGTGCTTTTATTTTC ACAGCCCATAATTCATAGTGATAGAGTGCAGTGATGTTTGCCATTTGCTGGACAACCAAC ACCCGGGTTGCTCCTTTGATTAGAGACCAGATCAGATAATTATGCTTTTAAACTGATTAC GTTTACATTCTTCTCTTTTCTATGAAAGGCAGGGCAAGAACAGAAGTGTTCACATGGCTC TCATGTACTTTTAAATTATACAATGATATCCAATATTAAAAGATTATAGGAACTGAGGTT TACATACGTTTGTGTGGTGACATTTTAGAATGTCAATAAATTTGCTTTTTGAGATGTTGA GAGGAACAAGAAGGTGGAAGGCAGTGTTATTTATTTCTTTCTATTCTTGGAACCACGAAT GAGGTAGGCACAAATACATTCCTTTTAGAGTTAAGAACTATGACGTAGCGAGTTAGTGAG ACTAGACATAGTACCGAATTTAGTTCATGCATTGGTCTTAGAGGGTGATGGAACAAGAGA AGTACTATCTTTGTGTTGCAGCCTCAACCAACAACAATGTGTTGTAAAAATGTCTTTCAT GTAAAAAGTGCAGTAAATATTTACTATTTATAATGAATAAACAGTTATGAAAACTTGAA |
Protein Sequence | >5077 : length: 553 MIQGKRRRSVCTLDVGCRAAWALLTKAQSVNGLVMAVFSPMDGEMRSRFSRREETAAARR LRLPFPLPARVPHYITVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVI SRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWE IRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGIL SERASAPQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTREEL AQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMPTLPTYQLSETSY QPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDSSSAYCLPSTRHGFSSYTDSFVP PSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSASCSQR LDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSAFHYLKPDIAWFQILLNT FDKSSGEEEDLEQ |