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
   04744 Phototransduction
    3000 (GUCY2D)
   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
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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Chemical substance (3)   
   KEGG COMPOUND (3)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (9)   
   RefSeq(nuc) (3)   
   GenBank (3)   
   EMBL (3)   
Protein domain (6)   
   Pfam (6)   
All databases (58)   

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