GUCY2D
entrez
3000
canonical
uniprot
Q02846
canonical
ensembl
ENSG00000132518
resolver
ensp
ENSP00000254854
resolver
enst
ENST00000254854
resolver
genesymbol
GUCY2D
resolver
genesymbol_syn
CORD6
resolver
genesymbol_syn
GUC1A4
resolver
genesymbol_syn
GUC2D
resolver
genesymbol_syn
RETGC
resolver
genesymbol_syn
RETGC1
resolver
hgnc
HGNC:4689
resolver
uniprot
Q6LEA7
resolver
uniprot_entry
GUC2D_HUMAN
resolver
uniprot_sec
Q6LEA7
resolver
activity_regulation
ACTIVITY REGULATION: Activated by GUCA1A when free calcium ions concentration is low, and inhibited by GUCA1A when free calcium ions concentration is high (By similarity). Negatively regulated by RD3; inhibits the basal and GUCA1A-stimulated guanylate cyclase activity (PubMed:21928830). {ECO:0000250|UniProtKB:P52785, ECO:0000269|PubMed:21928830}.
uniprot
proteins
amino_acid_sequence
MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLGPWACDPIFSRARPDLAARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALARVSGLVGPVNPAACRPAELLAEEAGIALVPWGCPWTQAEGTTAPAVTPAADALYALLRAFGWARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLDLSGAREALRKVRDGPRVTAVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTIHYALSPGPEALAALANSSQLRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTIYDAVFLLARGVAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYMLDPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICGGGLEPGLVFLGFLLVVGMGLAGAFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQGSRSSLGARSMSDIRSGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFLARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQREIKLDWMFKSSLLLDLIKGIRYLHHRGVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQKVLPEPPRAEDQLWTAPELLRDPALERRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTPEEVVQRVRSPPPLCRPLVSMDQAPVECILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLEQYSSNLEDLIRERTEELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIEVVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAVGTFRMRHMPEVPVRIRIGLHSGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHVNLSTVGILRALDSGYQVELRGRTELKGKGAEDTFWLVGRRGFNKPIPKPPDLQPGSSNHGISLQEIPPERRRKLEKARPGQFS
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 1 (LCA1) [MIM:204000]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:11035546, ECO:0000269|PubMed:12365911, ECO:0000269|PubMed:15123990, ECO:0000269|PubMed:16123401, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:27475985, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:8944027, ECO:0000269|PubMed:9888789}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cone-rod dystrophy 6 (CORD6) [MIM:601777]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:12552567, ECO:0000269|PubMed:15111605, ECO:0000269|PubMed:18332321, ECO:0000269|PubMed:18487367, ECO:0000269|PubMed:20517349, ECO:0000269|PubMed:21552474, ECO:0000269|PubMed:22194653, ECO:0000269|PubMed:23734073, ECO:0000269|PubMed:24480840, ECO:0000269|PubMed:25515582, ECO:0000269|PubMed:27475985, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:9618177, ECO:0000269|PubMed:9683616}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Choroidal dystrophy, central areolar, 1 (CACD1) [MIM:215500]: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. {ECO:0000269|PubMed:22695961}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Night blindness, congenital stationary, 1I (CSNB1I) [MIM:618555]: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive. {ECO:0000269|PubMed:29559409}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.6.1.2
uniprot
proteins
function
FUNCTION: Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:15123990, PubMed:21928830, PubMed:26100624, PubMed:30319355, PubMed:9600905). May also participate in the trafficking of membrane-associated proteins to the photoreceptor outer segment membrane (By similarity). {ECO:0000250|UniProtKB:P52785, ECO:0000269|PubMed:15123990, ECO:0000269|PubMed:21928830, ECO:0000269|PubMed:26100624, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:9600905}.
uniprot
proteins
mass_dalton
120059
uniprot
proteins
mutagenesis
MUTAGEN 822; /note="R->P: Fails to become activated by GUCA1A and by GUCA1B. Does not affect the binding to RP3."; /evidence="ECO:0000269|PubMed:26100624"; MUTAGEN 823; /note="M->R: Fails to become activated by GUCA1A and by GUCA1B. Does not affect the binding to RP3."; /evidence="ECO:0000269|PubMed:26100624"; MUTAGEN 925; /note="E->K: Changes the substrate specificity from GTP to ATP."; /evidence="ECO:0000269|PubMed:9600905"; MUTAGEN 997; /note="C->D: Changes the substrate specificity from GTP to ATP."; /evidence="ECO:0000269|PubMed:9600905
uniprot
proteins
protein_family
Adenylyl cyclase class-4/guanylyl cyclase family
uniprot
proteins
pubmed
11035546
uniprot
proteins
pubmed
12365911
uniprot
proteins
pubmed
12552567
uniprot
proteins
pubmed
1356371
uniprot
proteins
pubmed
15111605
uniprot
proteins
pubmed
15123990
uniprot
proteins
pubmed
16123401
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17724218
uniprot
proteins
pubmed
18332321
uniprot
proteins
pubmed
18487367
uniprot
proteins
pubmed
20517349
uniprot
proteins
pubmed
21078983
uniprot
proteins
pubmed
21552474
uniprot
proteins
pubmed
21602930
uniprot
proteins
pubmed
21928830
uniprot
proteins
pubmed
22194653
uniprot
proteins
pubmed
22695961
uniprot
proteins
pubmed
23734073
uniprot
proteins
pubmed
24480840
uniprot
proteins
pubmed
25515582
uniprot
proteins
pubmed
26100624
uniprot
proteins
pubmed
27475985
uniprot
proteins
pubmed
29559409
uniprot
proteins
pubmed
30319355
uniprot
proteins
pubmed
7806240
uniprot
proteins
pubmed
7912093
uniprot
proteins
pubmed
8944027
uniprot
proteins
pubmed
9391039
uniprot
proteins
pubmed
9600905
uniprot
proteins
pubmed
9618177
uniprot
proteins
pubmed
9683616
uniprot
proteins
pubmed
9888789
uniprot
proteins
sequence_length
1103
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000269|PubMed:7912093}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:30319355}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 463..487; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins