Property Summary

NCBI Gene PubMed Count 17
Grant Count 45
R01 Count 45
Funding $2,742,945.78
PubMed Score 42.67
PubTator Score 38.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.594 0.000

Gene RIF (7)

PMID Text
26100624 Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface.
25616661 The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1.
21405999 The absence of clearly pathogenic mutations in the selected patient group suggests that the GUCA1B gene is a minor cause for retinal degenerations in Europeans or North-Americans.
15901556 Observational study of genotype prevalence. (HuGE Navigator)
15505030 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15452722 Observational study of genotype prevalence. (HuGE Navigator)
15452722 Mutation in the GCAP 2 gene can cause one form of autosomal dominant retinal dystrophy, with variable phenotypic expression and incomplete penetrance.

AA Sequence

MGQEFSWEEAEAAGEIDVAELQEWYKKFVMECPSGTLFMHEFKRFFKVTDDEEASQYVEGMFRAFDKNGD      1 - 70
NTIDFLEYVAALNLVLRGTLEHKLKWTFKIYDKDGNGCIDRLELLNIVEGIYQLKKACRRELQTEQGQLL     71 - 140
TPEEVVDRIFLLVDENGDGQLSLNEFVEGARRDKWVMKMLQMDMNPSSWLAQQRRKSAMF              141 - 200
//

Text Mined References (16)

PMID Year Title
26100624 2015 Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.
25616661 2015 Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs).
21405999 2011 Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.
15901556 2002 [Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa].
15505030 2004 A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
15452722 2005 Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107411 2002 Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.
10507726 1999 Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies.
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