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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PDE6H (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5149 Official gene symbol PDE6H Full name phosphodiesterase 6H, cGMP-specific, cone, gamma Aliases ,RCD3, Gene summary This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq] Location Chromosome: 12   Locus: 12p13 Gene position 15125956 - 15134799  Map Viewer Gene orientation plus Gene size 8844 bp Gene sequence >PDE6H:7886080..7894923:Length=8844 CAAAGATCCTTTTGTCTTTTGCAAAGAAGGCAGCTGGGCAGCTGATAGGAACAACATTCA GCTCCGTGAGTACTTCTGAACTTCTGGTGAATTTGAGCAGGATAATTGAAGGGCTTTGGG GGGTTGATCAGGTTCCAAAAGAAAAATTGCAGAAGAAAACATGTTGGACCTGTGGGCCTG GGCTGTGGCTGGGGATGAAAATGGGAAAGAACATGAAGGAGATACATGCAGACCTTCTTG TTATGCCATGGGACAAGCAAATAAGTGAAACTTGATTATTACAAGGTCACTGCAAAACTT GATTACTGAATTCATTTAGAAGGAGCCCAATAGTGACCTCCCTGTTTGCAGCTTCATAGT AAACAGTTTTCTGAAGAAGGAGGAATCTGTGGCACTAAATAACCACAGAGAAAACAGTTC TTTACTCCCAGGATGTGCCTGCAAACTTGGCCCAGGATGGTGTGAGTGTGAGGAAAAGGA GAAGGGGAGCTGAGAGCATGAGAATGACCACAGGGCAGGGCAGGTGGCTGAGCCTTCTCC CTTTGAGGTCAAGTGTTTGTTCCATTCTGAAGCAGGGTGCTGGCTGGAATTTTGGTAATT TTTTTTTTATGGCTTTGGTTTGGGTCTTGCTTTGCTTTTCAAATTATTGATTTTCTCTGC CTCAGCAGGACCCTGGGTGATATTTATGGGCTCAACCCCAGCAGTACTTCCCTTCCCAGC TCCTTCCTGCCTCTTTCTTTGTCCACCAACAATGGACTGGTCTACCTGTCTATAGCTTTG CTGAGAAAAAGAGAACTGGAAGTGTAAGGTGATAACAGCAGCATCAGAGAGCTGTCTCAG GAACCTCCTAAAACTGCTTTTCAGAGGATCATCCTCTGTCACTATATAGAGCTGGGCTTT GCTGTATAAAGAAACAGAAGATGATTTTTTGCTTTATACAAATCTTTAACTTTGTTAAGT TGACCCTAATCCCAGTCCCCTAAAAAAGTATGCCTTGAAATATTACTTTGCTGCATCCAC TTATTTCTGCAGAAAAACAGTTTGTAATCTTCAAAAGGGGAAGGGCTAACATTGCTTTAA ATACAGGAAAATGTTCTGGCTCACAAAAGAATAAATTGCCTAATGCTTTTGGAGGAAAAA ATATGAAACTTCTTTCAGCTAAAATCAAGTCTGATAATACATTTAAGGTTACTCAGCTCC AGATGCCCTTAGAATTTCTAGAAAGGTGTGGTCAGCATGAGGTTAGCCTTTGGTGATGTT TATGGACAACAGGACTGGCTTCCAATGCAGGAAAAGGTCAGAGGTGTTCTACCCTTCCTA AAGGTTTTGCAGAGAGAATTGGAGGGTAAATCTATGACAGAAACTGCATAGGGATTAGTC GACTGTTCCGGTTACCTAGTGCAAATCCTGAGCACCATTAGGATCAAGGGATTAACCTGG CAACTGTTATGTAACTCTTTCTGAGGAGGCTTCTTTCATATAATGCATCATACTCAGACA TGAACACTTTCTAAGCCTAGAGGTGTAACTTCAAAATTATGTAAAAATGCAAAAGAAACT TGCAAGAAAAAAGGGGATGTATCATTGGGGAATATGGATGTCACGTGTGATTTTTAAATT CTTCGGGGTTGCTGTTGGGGTGTCAAAGGAATTCAAGGAAAGCTTCTTAAGACAGAATTT TAAGACCAGAAATAAGTTAACAGTCGGGGTGTTTGAAGGAAGCAGAGAATTACCCAGCGA GGGCAGATGATAATTGCCCCTCTGGTGTATGGCAAGGGCCCTTCAGCAGTTGGCCCAGAG GAAGGAGGTGCAGAGTCCAGGTGAACAAGTGTCATAACCACAGATTTGTTTGCATGGCTT TCTTTTCTCTCAGAAGGTCTAGCATATATTTGCCCTTTTTGAACACTTTGTACCACTCTA CTTATATTGTCTTCCTAAAATTTCCCCATAACTCTAAAAGGAAGGTCTTGTTTGATTCAT TTTATAGATGGAATAAGACCCACAGAGGATTATGAAATTTATCCTAAGTCACGTAGCCAG TTCTGTGGAGTAGGAACTTAAAACTATATCAGTTTGATTCTAAAGAGTGTACTCTCTACC GTGTTACCATCAAAGGACAATTTGACAAATGAGGGTCACTTTAGGCCCTTACATTATAGA ACTCTGGATCCAACTCAATTGGATCTTATTAGGGCTGCCAGATAAAAATGAAGGATGCCA GTTCAATTTGAATTCCAGAAAAAAAATGACTTTTTAAAGTATAAATATGTACCATGAAAC AGCTGAGATATACTTTACTAAAAAAAATTATTTCTTTGTAATTCAAATTGAACTGGGTGT CTTGTAATTTTTTTTTTTTTGGCTTAATCTGGCAATTCTAACCCTAATAGATTCTTTAGA TGAGAGAAAAGAAACTTTTTGATTTCTTCTACCTTGAAAATCCTGGGCAGTTCAAAAACC TTGATCTGAGAGCAATTCTCTAGCTGCCCTCTGTGACTCTGGCAGGGCTGGGATGTGTCA GTTACTGGTGGTCCACTCTGAGCACAGCGCAGATCTTGGCTGCTCACCAGCTATTCCCAG GGTCCCAACCACACTTGGGACAGACACAAGGTTTGCCTGTCTACCGGGGGTAGAGAGGGC CCACAGAACGGGAACTGAATTTAGTGAGCAGAGGAACTGGCAGTGCATTTCCTAAAGCCT GAAAGCTAATGACTTCTCTGTGCTCTGATGGAGAAGTCAAAGGGTCAGGATCTCATGACC AAGGTTTACAGTATTTGTTCAATTTCTTTTGTTTTTTTTTTTTGTTTTTTTTTTTTGGAG ACGGGGTCTTGCCCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAA ACTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGTGCCCGCCACCACACCTGGCTAATCTTTTGTATTTTTAGTAGAGATGGGGTTTCACC GTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTTCAATTTCTAAATTAATTT ATTAACTCATTTGACAAATATAATATATATGGCATGATTACTGTACACCATGCACTGTTG TAGGTTCTGAGACTGGAAGGACAGCCTCATGAAGCTAGTCCAGTAGGGGATAAAGGAAGG AATCACAGCATGAGCAGGTGGTCCAGGGTCCTGGCCAATCTCACCATCCCTGGTACTGGC AAGGGTAATAATTTAGTAATAATCAGAATTTAAATAAGAGAAAAATCTTGGAGGCGAGGA TAATAATTGCAACCCAATTGTCAAGGAAATAAGAAAACAGTATGGACTGGAAGTTATAGA ATATGAGGTTTCAGGAATATGCAGTGTGGCCAGTAAAGAGAGTCATTGTTAGCACGAGCC AAAGACTGTCAGGGAGGTTTGCAGTTAACAGTATTAGCATAGGCTGGTGTGATGGGTCAT GCCTGTAAACCTAGCACTTCGGGAGGCTGAGGCGGGAGGGTCACTTGAGCCCAGGAGTTT GAGGCTGTAGTGAGCTATGATTGCAATTGCACCACTGCACTACAGCCTGGCTGATGGAGC AAGAACTTGTCTCTCTTAAAAAAAAAGAAAAAAGAATATTAGCATAAATCTGCAATGGGT GAAATAAGGAATCTTATGGAGACAAAGCCCCCACACACTAGTTTTTATAGAGGAGACTGT CTCAGGGTAAGAGGCAAAAGCAATTTGGAGTTCTCTGGGGCTTTTCAGGATCTTCCTTCC AAGAGCAAGTTTTGTTAACTCTTACGAAAGAAAGGAAGAAAGAAAATAACGTCATCCAAA ATGACACATTAATTGCTTAAATTTATCTTTTTCAATAATTTTCTTTGATTTGTATTTGAA GAATGGCAATGTGCATTTCTGTAGCCAAATTAAAGTCTGAGAACACCATATTGGATAGGT CCGTGGTGTGGATAGAAGAAGGCATTGAAGATTTGTGAAAAGTGGGGGCTGAAGAACCTT ATGTCTCGACGTAGAGTTGAAGCACAAACGTATTACTTAATTATCCTTCATTAACTTCTG TATGTGCGTGTGTATTAAGATGTGTTGAATATATTCATGGGTGTTGGTATTCCTGCTTCA GAGGTCCTCCTGTCCAGACAACTACACTGTCATCTCCCAGAACTAAGAGAGAAGTTTCTG GTTCATGTGAGGATTAAACAAAATAATCCTATCTTAAACTATAAGGACATGAAGGACTAT AAAAAAACAGAGGCCATAAAAAATGCTCAATAAACATTTAGAGTCAGGTTATTTTACAGC TGGATGGAAGAATATGTAAAGCTTAAAGAAATTGCAGATGCTGTAAAAGACTATAGATAT CACTGAGTCCATTTTCCTCTCTTCGTAACTGACAGAACTGGTAGTCACAGAGAAGTACAG CATCATAATAAATTCACGTAGAATGCTTGTGGCAAATCTATTTTATTTATTTATTTTTAA ATTTTAATTTGTTATACCTAATGTGAAGCTTTAATTTAATTTATTTATTTAAAAATTGTT TTCAGTGGCAGATCCATGGGAACAGCATAGCTACCTAGATTTCTGAGTTTTAAAATCTAT CAATTGTCCGTTTACACAACTGATAGATTGTGTAAGTAATGTAGCAGAAGGTAAGTTTCC ATTCCATTCCATTAAGTGCCTGCATTGATTTATACTCTGTTTTCTTAAAGATCCCTTTTA AAGATGATAACTTCTCCCCTTTTGTGTCAACACAAAATACTGAGCTTTCTTGTTGAAGTA CTTTTCTTCTCCAGCCTGAAATAAAGATCTAATAACCAATGGTCCCCATGACTTGAAAGA TCTTCTTTTTTTTATCTTTCACTGTCTAAGGAGGCTGAAAGGGAAACATCAGCCGCCCGG GGGGAGTTAAAATGAGTGACAACACTACTCTGCCTGCTCCAGCTTCAAACCAGGGTCCTA CCACCCCACGCAAAGGCCCTCCCAAGTTCAAGCAGAGGCAGACTCGCCAATTCAAGAGTA AACCTCCAAAGAAAGGTGTGAAAGGGTAAGACCAAAATGAAAAGAAAAACTTTCTATTAC TTTCTTTTTCCCACAAGACTGCTTTTGTTTTGGGAAATTGGTGCTCACAATATTAAACAG ACTTACAAAAATTTCCACTCCATCCTCTCTTTTCCTCTGTAACTCCATCTTTGATGAATT GTGTCTTTATCCCTGGAATTCTTTCCTTCTCAACTTCCAGGTCTGTGGCCGAATTTAACA TGGCAAATAGAGGCTTTTTACAATAAACTTTGACTTTGCCTTGCAGGCTTTTGATGACCA CTCCTCTTTACTGAGACAACCTCTACGTTAATCTGTAACACTGAACCACTGACCATTTCC AGAAAATATAGCTTATATTTATGTCTTCCAATTTTGTATCCTCAGTTCTTTATTTTCCTC TTCCTCTCCTTGGCAAAATCCTATTGATTTTTCAACACACAGATCATATGCTAATTTCTT TTTGAAGCTACTCCTGACTCTCTTTAACAAACTATCATTACTTTCATGTTTGCATTTTGT ACATTCAGCTATCATAACTTACATTATATCTTATATTTATTTATTTGTATCTATTCTCCG AGGCTAAGACCACTCAGAAAATTTGTCTGTTTTCTTCTTAACTCTCTGTGCTTAATAAAA TGCCTGGTATATAATAGATGCTTAGTTAATGATTTTGAATAAGTAAACAAATGGATGAAT TCATCATTTTTAATGCCTTTTGTATTGCTTTCTCATTTCAATTTTTATTATAAAAAGTGA AACTTGACTAAGTTGTCCCACTGATGGTTCTTTCTGACTCTTAATTGTTTTAGGTTAAGT TCCTACAGGAGAGAAATATCTCTCCAGTGGGATACACCAAAACCTGCCTGAGTGACATTT TCTTTGCTCCAGTTCAGGGCAAACTAAAGGAGTTTCTCACATACAAACACTTAAACCTCT CCTTCTTCCCCCTTGAATCAAGAAACTCTCCATGTGAGTGACTCCAAAATTCTTTTGCTC TAATCTCAGCTAATTTCTCCTTTATTCTTTTCCATAGATTTGGAGATGACATTCCAGGAA TGGAGGGGCTAGGAACAGGTAAGCCATCCACTGATTTAAGTGAGAACTTCGCACTTGGAG TTCTGCCTTTTTATATACTTCAGGCCTCAAGGGGCAGTTGAAAGTTATGAGAAATACCCA AGGCAGAAGATCTGTGAAGACATAGAAATGTGGGGATTTAATTTACCCTCGAAATAAGTA CATGTGTGCCCAGATACAAAAGCCCTAAAAGAAATCAGGGTAGGCCCAAAATTTCATAAA CCTTCTTGTTTTGTCAAACAACCTTTGAGGGCATACAATGATAAATTATAGACTTTTATG GTAGAAAGATTTTCATAATTCATCTCCCCAAACTTCATTTTTCAAGGGAGAAATCTGAGA CATACAGGAATTGGCAGTCTTTTGTCTGAGGCTACCAAGTGAACTATTGGAAATAAGGGT GAGGTCTGGAGATCTCTCCACTCTACCTGGCAAACCACTTCCTTACCAATTTCCTCTTTT TACACATCCTCTAGCACCCAGAGGAGGATCTTACATACTGAATGCCTGCAATATAATTTT AAAAATTGGTTACCAGATTTTTATGTATCATACAATGAATGCAATCACTGCATATTTTTT AAATTAATAGACTTTATTTCTTAGAGGAGTTTAAGACTTACAGAAAAGTTCAGCAGAAAG TAGAGTTCCTATATGTCCTCTCTACCATCTCTCTCCCCTTTTACACAGTTTCCTCTATTA TTAACATCTTGTATTAGTGTGATTATATTTGATGAGCCAATGTCGATGCAGTATGTTAAT TAAACTCCATAGCTTGAATTAGAGTTTTTATCCCTTGTGTTGTAAAGTTCTAAGGGTTTT GATAAATACCATGTACCCACCATTATAGTACATATTGCAGTACATATAGTATCATACAGA ATAGTTTCGCTGCCCTATGCTCCACCCGGTCATCCTTCTCTCTCTCTCTAAACCCCAGAC ATCCACTAATGTTCTTACTGTCTCTATAGTTTTGCCTTTTCCAGAATGTCATATAGTTAG ACTCATACAGTATACAGCTTTTCTGGACTAGCTTCTTTCATTTAACCATATTCATTTAAG GTTTCTCCATGTTTTTATGTGGCTTGATAGCTCATTTTTTAAAATCACGGAATGATACTC CATTGTAGGGATATACACAGTTTTTTATCCTATTGAAAGATACCTTGGTTTCTTCCAAGT TTTGCCAATAATGAATAAAATGCCCCTAAATATTTATGTGCAGGCTTTTGTGTGGACATA TTTTCAACTCATCCAACACACCTTTGATAAACAGTAGCACTTGTAGTAATCAGTGTCCTT CCCAGGCAATCCTCAGTGTCTCTTTCTGCAGGCAAATACCAATCCTGGGATCTTGAATGA ATTTTCCAGCCATGTTATAAAGCAAATTTTCTATTCTTTTAGATCAACTGCTTCCGTATT TTGGCAAGGTGCATACAAGACCAGCAAATTTGCTTTGGGATCTGGAAGATATGCTTGACT CTGACAGTGTATTTGGAATAATGTAAAGAGGTTTATAGGGAGTGAAGGTCTGAGGTCTTT GACCTGGCTCTAGTCTCAGCTCTACAACTATGTGGTTTTTGCTAATTATTTCATCTTTCT GTGTGTCAGCAAGCTTCTTTGTAACTCAGGGATAATAACATCTTATTGTCTAAAACAAGA AGCTGGATTAAAAGATGCTTTGTGATCGTTTCTCAATATGTGATTGGATATAGGCAATTC AAAATGTAAAGGAATAGAAGAACAATTAGAGAAGAAACCGATCTAGATTGGTAGGGAAGA CTATGGATACCTAGACCAGGGAGATTCAAAGTGCTCCTCTTTTTCATTTTAACCCTTGGC CTGACTAGAATTCCACTTCTGCCTCCTCCTTAGTGGTTGTGGTTTGGGGAGACTCTGTGT AATCAGTGGGCTGTACCCCACAGGGAACCCCCCAGTCAACAGCTGTGGATCACCTCCCCA AAGAGGAAGCAGAATGAAACCAACAGAGATGCCTGGTGCAACAATTAAGCAATTGGTCTG ATCCTTCCTGGGCCACAGGGCCACGCTAGGGAACTTCCCAGTCAGGGGACAATGAGCAGG AGAGAGGAGTGAAGTGTCTCTGCCTGAAGGGTGTCTTTCTGTGAAGAAGCTCTCTTGGGG TGAGGTTGGCTTACGTGCTCTTCTTCCATCTCTTGCAGATATCACAGTGATTTGTCCATG GGAGGCATTCAGCCACCTGGAATTGCATGAGCTCGCTCAGTTTGGGATTATCTGAAGTGC CAGAGGTTCTGCCACTCTCAATGACATCTGCTGTAATTTTGGTTGCTTTTGCCCTGTTGA TCTGCCGGAGTCTTGAAATTCAGCTGATTGGAAGTGGTTTCTTTGACTTTCAAGGTCATT CCCTATCAGTTACTACTAAGAGTTCTCTTACTGTCAGAATCTCTCTTGCAGTACAGCTCA AAATAGTGGATGCATTTCAAACTTGACCACCTTTTCCTACCAGCTAGTTAGAAGTCATCA ATATTTCTCTACATTTTGTTTATCTGTAAGTCCTTTAAATCTATTTTTGCTAGGCATTCA TTATGATTAATAGTAGACTTTTAAGACAACATTTATGTCACTCCCCACCTCCTCATATTT AATAAAGGAGATATTTACCTTGAA OMIM ID 601190