KEGG   Homo sapiens (human): 3000
Entry
3000              CDS       T01001                                 
Symbol
GUCY2D, CACD, CACD1, CG-E, CORD5, CORD6, CSNB1I, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC
Name
(RefSeq) guanylate cyclase 2D, retinal
  KO
K12321  guanylate cyclase 2D/E [EC:4.6.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00230  Purine metabolism
hsa01100  Metabolic pathways
hsa04740  Olfactory transduction
hsa04744  Phototransduction
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00787  Congenital stationary night blindness
H00837  Leber congenital amaurosis
H01768  Central areolar choroidal dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09104 Nucleotide metabolism
   00230 Purine metabolism
    3000 (GUCY2D)
 09150 Organismal Systems
  09157 Sensory system
   04740 Olfactory transduction
    3000 (GUCY2D)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    3000 (GUCY2D)
Enzymes [BR:hsa01000]
 4. Lyases
  4.6  Phosphorus-oxygen lyases
   4.6.1  Phosphorus-oxygen lyases (only sub-subclass identified to date)
    4.6.1.2  guanylate cyclase
     3000 (GUCY2D)
Protein kinases [BR:hsa01001]
 Serine/threonine kinases: Other
  RGC family [OT]
   3000 (GUCY2D)
SSDB
Motif
Pfam: Guanylate_cyc ANF_receptor PK_Tyr_Ser-Thr Pkinase HNOBA Kinase-like
Other DBs
NCBI-GeneID: 3000
NCBI-ProteinID: NP_000171
OMIM: 600179
HGNC: 4689
Ensembl: ENSG00000132518
UniProt: Q02846
LinkDB
Position
17:8002615..8020342
AA seq 1103 aa
MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLG
PWACDPIFSRARPDLAARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALAR
VSGLVGPVNPAACRPAELLAEEAGIALVPWGCPWTQAEGTTAPAVTPAADALYALLRAFG
WARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLDLSGAREALRKVRDGPRVT
AVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTIHYALSPGPEALAALANSSQ
LRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTIYDAVFLLARG
VAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYML
DPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICGGGLEPGLVFLGFLLVVGMGLAG
AFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQGSRSSLGARSMSDIR
SGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFL
ARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQREIKLDWMFKSSLLLDLIKGIRYLHHR
GVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQKVLPEPPRAEDQLWTAPELLRDPALE
RRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTPEEVVQRVRSPPPLCRPLVSMDQAPVEC
ILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLEQYSSNLEDLIRERTE
ELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIE
VVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAV
GTFRMRHMPEVPVRIRIGLHSGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHV
NLSTVGILRALDSGYQVELRGRTELKGKGAEDTFWLVGRRGFNKPIPKPPDLQPGSSNHG
ISLQEIPPERRRKLEKARPGQFS
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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