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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PHOX2A (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 401 Official gene symbol PHOX2A Full name paired-like homeobox 2a Aliases ,ARIX,CFEOM2,FEOM2,MGC52227,NCAM2,PMX2A, Gene summary The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq] Location Chromosome: 11   Locus: 11q13.2 Gene position 71955220 - 71950121  Map Viewer Gene orientation minus Gene size 5100 bp Gene sequence >PHOX2A:complement(17255916..17261015):Length=5100 ACTTGCGTTGCACCCGGGCTGAGTGCGGCCGCGACGGGGCGGGCGGACTCTCGGGCGCTC AGAGCTGGCCTCGGGTCCTCGGAGCCTGGCGCTCGAACCTCCCTTCCGACCTCCACCCGG ACCCCGACCCCGACCCGGCCTGGCCCGGCCCCCGCCCCCGCCCCCCGGGCCGATGGACTA CTCCTACCTCAATTCGTACGACTCGTGCGTGGCGGCCATGGAGGCGTCCGCCTACGGCGA CTTTGGCGCCTGCAGCCAGCCCGGCGGCTTCCAATACAGCCCCCTGCGGCCCGCTTTCCC CGCGGCAGGGCCGCCCTGCCCCGCGCTCGGCTCCTCCAACTGCGCACTTGGCGCCCTACG CGACCACCAGCCCGCGCCCTACTCGGCAGGTGAGCGCAGCCCCGGCCCAACCCTCCCTCC AATTCCTGCAGAATCCCTGGGCCCGCTCGCCAAGTGAATGCGACTGTCCCCCTCAGCCGC CCCCATTCCTGCCTTGGCCAGACCCTCCAATGCCCCGAGAGACCCCCAGAATACGAGGTT CTCCTCCGCAGGAATGAGCCTCACCCTCTCATCTCTCCTGTTCCTTTTTCTCGTTGCCAA ATCTCTGTCTCGTGCCCTTCAGGTCAAGGAAATATATCCCCATCCAGCTCTGGGCCCCTT ACCAGGCCTTCCCCTCACCACCTGCAAAGACTGACCACTAAACCTCTACAAGCGCTGGAT CTTTGAAAAAGGCTCCCAGCCCAGCCCTATCACCACTTATCACCCCACCCCATCACCGCT GCCCCACGAGATGCATGACCCCCAGCAAGGACCTCTCCAGGCAGCTGAGCTGCCCAGACG GGAAGCTTCCTAGAGCTCGCGTGGCCATCAGGCCCCTCCTGCCCTGTCTTGGACCCACGC TGCCTGGGACCGAACCCTTCTGTAGCCACCAAAACCAGATCCCGTAGCCCGCAATAAAGG GGCCCGGGTTTTTAAGCCACTTGTATTTCCCCATTCCCCCAGACTCTCCCAGCTAGAGTT CTGTAGAACCCGGAAGCAGCTCCTGCATCCCCAAGACTTTAGATCCAAGTCCCTGTCCAA ACCCTCAACCTCACTGAGCTTCTCAGTCATCTCAGCCCTCTGATTAGAGTCCCAGCCTGC CCTATGTAATCTTATCGCCTTCCCTCCTGGGAAGACTGCCGGGGACCCAAGTAGAAGACT GGGGCCTAAGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAA GGCGGGTGGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCC CATCTCCATTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCCCACGCCTG TAATCCCAGCTACTTGGGAGTCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGT TGCAGTGAGCTGAGACTGTGCCATTGCATTCCAGCCTGGGTGACAGAATGAGACTCGGTC TCAAAAAAAAAAGAAGAAGAAGAAGAAGAAGACTGGGCCCTAGGCTGGGGTTTGGGGAAG AGATACGAGAAATGAGAACCTGGATTTGGAGAAATGAGGCCCAGGGTGGGGAGATTGGGT ACCCTGAGCCAGATGAGGGTAGGGATTGGGAAGAGGGGAGACAGCCTCCAGAGATACAGG GTTTTGAGACCAGAGAGATGGGGATAAGGTACAGAGAGATGGGAGCAGAGATGGAAGCAC TGGAAATCCTAGGAGAAATGGGGACTCAGGGTTGGGGAGATAGAGATAAGTATCAGGCGA TGGGGACCAAAGAAGATTAGAAATAGAGATGACGAAGATAAGAATACAAATGGGGTGCTG GAGACAAGAATCAGGGGAGATGGAGGCCTGGATGGGACAAAGATGAGATTGGAGACCCCT GGTGAATATGAAGACTTAAACCAGGGTTACAGACAGGGAAGGGAAGTACTGTCAGAAACA CTACCTATGGGGCAGTGGAGACTGGGATGGGTATAGGAAGAGAGTTGGGGGGCAGTGTTG GCTTTGGAGGAGATGGGACATGGAGAAGGTGCCTGGGGAGGAAGAAGGAGGGCAAAGAGA AGATGGAGGAAGTCTTCTCAATGGGCGCAAAGAGAAGATGGAGGAAGTCTTCTCAATGGG CACAAAGAGAAGAGTGGCTGAGAAATGGAAAGTTGAAGAGAGATTCAAATGGAGGAAGAT TAGGAAGAGGAGAGGGGGACATCTAGGGGAGAATGGGGGTCAGGGGAGTGGGGCAGAATT GAAGAAATGAGGCTTGGGAAGGGGAGAGGTGGATGGGTGGAGGGAGCCAAATCTGTATAC AGCTGAGAGCCGGTGGGAAGGCTGGTGGTAGGGCTGAAAGGAGGGCCGGTGGGAGGGTCT CTGTTGCAGAGCCTTGGCCCAGAACTGGTTAGTGGGAAGACTGGCAATGCTGATGAGACC TGACAGACATCCAGGGCCAGGGTAGACAGAGGGGACAGACGGGCTGAGAGACAGACAGGA GGGAAGGGTCGGAGGCACGGTTGAATGGGGGTGCAGGGGGAGATGGAGGGAACAGGGCTT GGGAGGAGGGCGACGACGGGGGTGGGGTGGGGGAGGGAGTGTCTTGGCTGGAGTATTGGA TTATGCTTTCCCCTTGGCCGCTCTTGGGGCTCAGGTCTCCCTGATCTCCCTCCGCCTTTA TCCCGCCGGCTCCATTGAGTAATAGGGAGGACGCTCGGCCCCAGGCTGCCGGGACCAAGA CGAGGGATCAGGCCAGGGACGGGGGAGGCGTGTGATTCCCCCGGAGCTGGACACAACGGG TTGAACTCTGCTTCTCACTCCCCCATCCTTTTTGCCCCCCCCCCGGCCCCCCTGCACACA CCCGCAGTGCCCTACAAGTTCTTCCCAGAGCCATCCGGCCTGCACGAGAAGCGCAAGCAG CGGCGCATCCGCACCACGTTCACCAGCGCGCAGCTCAAGGAGCTGGAGCGCGTTTTCGCT GAGACCCACTACCCCGACATTTACACGCGTGAGGAGCTGGCGCTCAAGATCGACCTCACT GAGGCTCGCGTGCAGGTGCGTGTATGCACGTGTGTGTACGAGAGTGCGCATGGAAGGAGG TGTGGGAGCTTAATGTCTAACACCTGGGGGTAGGGGAATACAGGCAGATGCAGCCCGAAG GCAGGGCGCGGTCCCAGGGTGCTTGGGCAGCTACGGGAGGCAGCAGGGCCCGGACTTGGA GGCCCTTGGGAGACCCGATCTGTTTAGCTCCAGGCTACCTCCGCTCTGTCTCCCTCTTAG GGCAGAAAGTTCCGAGTGATGCTTGAGAAGCCAGGAGGGAGGCCGAGGGGCTAGAGGGGG AGACCCAGGGGACCTCAGGGCCGAGCTGAGGAGGAGAGGGGGCAGGCCAGTCAGCACCCC TGGGGTTCCCTACCCCGGCGCTGCAGCTTTGAAAACCCGGAGCCCGGGAGGCTGAGTTTG TGGCAGGCACAGGGCCGAAGAGAGCCGGGCTAGAGCAGACTGTTGTCTATTTGTACAACT CCGTGTACAGATGTTCAGTTGGCCCGCCTTGACTGGATGCCCTAGACAAAAGGTTTACTG GCGCCCTAAACTGCTCTCCACGGCCCTGGAACACTCCAGGAGGGAAGTCCCAGAGCTTCC TAAAAGAAGGAATTGGGGGAAGAACTTAGAGTGAGGAGAACGAAGGCAGGGTCCCCTCCG GGAGACCAAGAGTGCTGGGAGGCAGCAGAGTCAGCGGGTGAGTGGATCCCAAGGGCAAGA ACCCAGGGATCTGGAGGCAGGGGCCAGTGGAGCGCGGAGTGCAGCGGGCTGCGTGCGGAG GGCCGAAGGCCCCTCCAACTAGTAAGAACCCGGGCCCGGTTCTTTCCGAACCAGGATCTC ACTCGAGCCTTGCGGCCGCGGGCTGACCCCGTGCGTTCTCCGACCCTCGTCCAGGCTGAC TGGCCCCTGTGCCCGCAGGTCTGGTTCCAGAACCGCCGGGCCAAGTTCCGCAAACAGGAG CGCGCGGCCAGCGCCAAGGGCGCGGCGGGCGCGGCGGGCGCCAAAAAGGGCGAGGCGCGC TGCTCCTCCGAGGACGACGATTCCAAGGAGTCCACGTGCAGCCCCACGCCCGATAGCACC GCCTCGCTGCCGCCGCCGCCTGCGCCCGGCCTGGCCAGCCCGCGCCTGAGCCCCAGCCCG CTGCCCGTCGCACTGGGCTCCGGGCCGGGACCTGGGCCGGGGCCACAGCCGCTCAAGGGC GCACTGTGGGCCGGTGTGGCGGGCGGTGGGGGCGGCGGGCCTGGCGCGGGAGCGGCCGAA CTACTTAAGGCTTGGCAGCCGGCGGAGTCCGGCCCCGGGCCCTTCTCCGGGGTTCTGTCC TCCTTTCACCGGAAGCCCGGCCCCGCCCTGAAGACCAATCTCTTCTAGCTGCCGGCCTCT GGAGGCTCCGAGCCTGCCCCCAGAGACGTCCCTGCCCCTCCAGGACCTGACAGCCCCTCC CATCCTGGCCACCCGCCTGGAAGTCCCCATCCGTCTCCACTCCCTACTGTCTCACCCCTC GGTGTGTCCTCCCCAACTTTGGAGACCAAGTCAGGGCCACTCTCGTCCTCACCCACCCTC TACCAGCAGAGCGGAGTTCTTTATACCGGGACCTCCTCCAGGAGAACCCCGGAGCTCCTT CTAGCTTGGCCTTCTTTGGATGCGGTATCACATGAGGCCTGTCCCTAACAGTGCCCTCAA AGTGAAGGTCCTCAAGGAGGATCGGCACAGCCCCCTTCCCTGGCTCTGCAGCGGCTGGGT CACCCCTTACGCTGGTGATCAGGAAAGCCCGCTGCCCCACCCCTCGGGCCCACCCGTACA GAGGCTGGTGGTCGCCGGGATAATTAATGACCACCGCCAATTCATCCCTCACGTGTCTCC TCTCTTCCCTAGCCCGTCTGGCACAGAGGGTGGACCTGTTAGAGGAGTGGAGGGGCTGCC TGGGGAATGGGACAGAGGGATTCTCTTTCCCTAATTTTTTTGGTTGTCCTTTTTCTTTGA AAAACTTGTAATTTATTGAAGTTTTACTCAATCCAAATAAAACTTAATTTATTGAAGACA OMIM ID 602753