| Entry |
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| Gene name |
GUCY2D, CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC
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| Definition |
guanylate cyclase 2D, membrane (retina-specific) (EC:4.6.1.2)
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| Orthology |
| guanylate cyclase 2D/E/F [EC: 4.6.1.2] |
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| Organism |
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| Pathway |
| Purine metabolism | | Olfactory transduction | | Phototransduction |
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| Disease |
| Cone-rod dystrophy and cone dystrophy | | Leber congenital amaurosis (LCR) |
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| Class |
Metabolism; Nucleotide metabolism; Purine metabolism [PATH: hsa00230]
Organismal Systems; Sensory system; Phototransduction [PATH: hsa04744]
Organismal Systems; Sensory system; Olfactory transduction [PATH: hsa04740]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
17p13.1
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| AA seq |
1103 aa  
MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLG
PWACDPIFSRARPDLAARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALAR
VSGLVGPVNPAACRPAELLAEEAGIALVPWGCPWTQAEGTTAPAVTPAADALYALLRAFG
WARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLDLSGAREALRKVRDGPRVT
AVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTIHYALSPGPEALAALANSSQ
LRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTIYDAVFLLARG
VAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYML
DPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICGGGLEPGLVFLGFLLVVGMGLAG
AFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQGSRSSLGARSMSDIR
SGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFL
ARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQREIKLDWMFKSSLLLDLIKGIRYLHHR
GVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQKVLPEPPRAEDQLWTAPELLRDPALE
RRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTPEEVVQRVRSPPPLCRPLVSMDQAPVEC
ILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLEQYSSNLEDLIRERTE
ELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIE
VVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAV
GTFRMRHMPEVPVRIRIGLHSGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHV
NLSTVGILRALDSGYQVELRGRTELKGKGAEDTFWLVGRRGFNKPIPKPPDLQPGSSNHG
ISLQEIPPERRRKLEKARPGQFS |
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| NT seq |
3312 nt  +upstreamnt +downstreamnt
atgaccgcctgcgcccgccgagcgggtgggcttccggaccccgggctctgcggtcccgcg
tggtgggctccgtccctgccccgcctcccccgggccctgccccggctcccgctcctgctg
ctcctgcttctgctgcagccccccgccctctccgccgtgttcacggtgggggtcctgggc
ccctgggcttgcgaccccatcttctctcgggctcgcccggacctggccgcccgcctggcc
gccgcccgcctgaaccgcgaccccggcctggcaggcggtccccgcttcgaggtagcgctg
ctgcccgagccttgccggacgccgggctcgctgggggccgtgtcctccgcgctggcccgc
gtgtcgggcctcgtgggtccggtgaaccctgcggcctgccggccagccgagctgctcgcc
gaagaagccgggatcgcgctggtgccctggggctgcccctggacgcaggcggagggcacc
acggcccctgccgtgacccccgccgcggatgccctctacgccctgcttcgcgcattcggc
tgggcgcgcgtggccctggtcaccgccccccaggacctgtgggtggaggcgggacgctca
ctgtccacggcactcagggcccggggcctgcctgtcgcctccgtgacttccatggagccc
ttggacctgtctggagcccgggaggccctgaggaaggttcgggacgggcccagggtcaca
gcagtgatcatggtgatgcactcggtgctgctgggtggcgaggagcagcgctacctcctg
gaggccgcagaggagctgggcctgaccgatggctccctggtcttcctgcccttcgacacg
atccactacgccttgtccccaggcccggaggccttggccgcactcgccaacagctcccag
cttcgcagggcccacgatgccgtgctcaccctcacgcgccactgtccctctgaaggcagc
gtgctggacagcctgcgcagggctcaagagcgccgcgagctgccctctgacctcaatctg
cagcaggtctccccactctttggcaccatctatgacgcggtcttcttgctggcaaggggc
gtggcagaagcgcgggctgccgcaggtggcagatgggtgtccggagcagctgtggcccgc
cacatccgggatgcgcaggtccctggcttctgcggggacctaggaggagacgaggagccc
ccattcgtgctgctagacacggacgcggcgggagaccggctttttgccacatacatgctg
gatcctgcccggggctccttcctctccgccggtacccggatgcacttcccgcgtggggga
tcagcacccggacctgacccctcgtgctggttcgatccaaacaacatctgcggtggagga
ctggagccgggcctcgtctttcttggcttcctcctggtggttgggatggggctggctggg
gccttcctggcccattatgtgaggcaccggctacttcacatgcaaatggtctccggcccc
aacaagatcatcctgaccgtggacgacatcacctttctccacccacatgggggcacctct
cgaaaggtggcccaggggagtcgatcaagtctgggtgcccgcagcatgtcagacattcgc
agcggccccagccaacacttggacagccccaacattggtgtctatgagggagacagggtt
tggctgaagaaattcccaggggatcagcacatagctatccgcccagcaaccaagacggcc
ttctccaagctccaggagctccggcatgagaacgtggccctctacctggggcttttcctg
gctcggggagcagaaggccctgcggccctctgggagggcaacctggctgtggtctcagag
cactgcacgcggggctctcttcaggacctcctcgctcagagagaaataaagctggactgg
atgttcaagtcctccctcctgctggaccttatcaagggaataaggtatctgcaccatcga
ggcgtggctcatgggcggctgaagtcacggaactgcatagtggatggcagattcgtactc
aagatcactgaccacggccacgggagactgctggaagcacagaaggtgctaccggagcct
cccagagcggaggaccagctgtggacagccccggagctgcttagggacccagccctggag
cgccggggaacgctggccggcgacgtctttagcttggccatcatcatgcaagaagtagtg
tgccgcagtgccccttatgccatgctggagctcactcccgaggaagtggtgcagagggtg
cggagcccccctccactgtgtcggcccttggtgtccatggaccaggcacctgtcgagtgt
atcctcctgatgaagcagtgctgggcagagcagccggaacttcggccctccatggaccac
accttcgacctgttcaagaacatcaacaagggccggaagacgaacatcattgactcgatg
cttcggatgctggagcagtactctagtaacctggaggatctgatccgggagcgcacggag
gagctggagctggaaaagcagaagacagaccggctgcttacacagatgctgcctccgtct
gtggctgaggccttgaagacggggacaccagtggagcccgagtactttgagcaagtgaca
ctgtactttagtgacattgtgggcttcaccaccatctctgccatgagtgagcccattgag
gttgtggacctgctcaacgatctctacacactctttgatgccatcattggttcccacgat
gtctacaaggtggagacaataggggacgcctatatggtggcctcggggctgccccagcgg
aatgggcagcgacacgcggcagagatcgccaacatgtcactggacatcctcagtgccgtg
ggcactttccgcatgcgccatatgcctgaggttcccgtgcgcatccgcataggcctgcac
tcgggtccatgcgtggcaggcgtggtgggcctcaccatgccgcggtactgcctgtttggg
gacacggtcaacaccgcctcgcgcatggagtccaccgggctgccttaccgcatccacgtg
aacttgagcactgtggggattctccgtgctctggactcgggctaccaggtggagctgcga
ggccgcacggagctgaagggcaagggcgccgaggacactttctggctagtgggcagacgc
ggcttcaacaagcccatccccaaaccgcctgacctgcaaccggggtccagcaaccacggc
atcagcctgcaggagatcccacccgagcggcgacggaagctggagaaggcgcggccgggc
cagttctcttga |
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