Property Summary

NCBI Gene PubMed Count 72
Grant Count 56
R01 Count 52
Funding $4,328,105.02
PubMed Score 178.36
PubTator Score 165.90

Knowledge Summary

Patent (3,594)

Expression

Synonym

Accession Q02846 Q6LEA7 RETGC-1
Symbols LCA
CYGD
LCA1
RCD2
CORD5
CORD6
GUC2D
ROSGC
retGC
GUC1A4
RETGC-1
ROS-GC1

Gene

PANTHER Protein Class (3)

PDB

1AWL  

Gene RIF (49)

PMID Text
26962819 Gc1s/Gc1s phenotype variant of DBP and the unbound fraction of plasma RBP4 may be considered as factors related with the incidence, and possibly the risk, of IR in CHC patients.
26957854 Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.
26703466 Data suggest that GCAP1 (guanylate cyclase activator 1A; Mg2+ vs. Ca2+) exhibits conformational changes in Ca2+ switch helix that are important in activation of RetGC1; myristoylation of GCAP1 is important as well in attaining activator conformation.
26427419 Studies indicate that mutations in retinal guanylate cylase-1 (GUCY2D) are associated with a leading cause of recessive Leber congenital amaurosis (LCA1).
26298565 The GUCY2D mutations were frequent in Chinese families with autosomal dominant cone or cone-rod dystrophies. All mutations were found in exon 13.
26100624 Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface.
25979109 Guanylate cyclase signaling pathway is down regulated in the pathogenesis of inflammatory bowel diseases.
25616661 The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1.
25515582 GUCY2D is a major cause of autosomal dominant cone and cone-rod dystrophies in Israel
25189253 A deletion mutation in the GUCY2D gene is associated with Leber congenital amaurosis in a consanguineous Pakistani family.
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AA Sequence

MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLGPWACDPIFSR      1 - 70
ARPDLAARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALARVSGLVGPVNPAACRPAELLA     71 - 140
EEAGIALVPWGCPWTQAEGTTAPAVTPAADALYALLRAFGWARVALVTAPQDLWVEAGRSLSTALRARGL    141 - 210
PVASVTSMEPLDLSGAREALRKVRDGPRVTAVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDT    211 - 280
IHYALSPGPEALAALANSSQLRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTI    281 - 350
YDAVFLLARGVAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYML    351 - 420
DPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICGGGLEPGLVFLGFLLVVGMGLAGAFLAHYVRHR    421 - 490
LLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQGSRSSLGARSMSDIRSGPSQHLDSPNIGVYEGDRV    491 - 560
WLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFLARGAEGPAALWEGNLAVVSEHCTRGSLQDL    561 - 630
LAQREIKLDWMFKSSLLLDLIKGIRYLHHRGVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQKVLPEP    631 - 700
PRAEDQLWTAPELLRDPALERRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTPEEVVQRVRSPPPLCRPL    701 - 770
VSMDQAPVECILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLEQYSSNLEDLIRERTE    771 - 840
ELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIEVVDLLNDLYT    841 - 910
LFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAVGTFRMRHMPEVPVRIRIGLH    911 - 980
SGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHVNLSTVGILRALDSGYQVELRGRTELKGKGA    981 - 1050
EDTFWLVGRRGFNKPIPKPPDLQPGSSNHGISLQEIPPERRRKLEKARPGQFS                    1051 - 1103
//

Text Mined References (74)

PMID Year Title
26962819 2016 GC Gene Polymorphism and Unbound Serum Retinol-Binding Protein 4 Are Related to the Risk of Insulin Resistance in Patients With Chronic Hepatitis C: A Prospective Cross-Sectional Study.
26957854 Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
26703466 2016 Structure of Guanylyl Cyclase Activator Protein 1 (GCAP1) Mutant V77E in a Ca2+-free/Mg2+-bound Activator State.
26427419 2016 A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).
26298565 2015 GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
26100624 2015 Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.
25979109 2015 The guanylate cyclase-C signaling pathway is down-regulated in inflammatory bowel disease.
25616661 2015 Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs).
25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
25189253 2014 Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
More...