GUCA1B, guanylate cyclase activator 1B, 2979

N. diseases: 41; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151190
Disease: RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 48 		0.610 Biomarker disease GENOMICS_ENGLAND Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. 21405999 2011
CUI: C3151190
Disease: RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 48 		0.610 Biomarker disease BEFREE This protein was highly conserved across the strains of NTHi examined and mucosal immunization with recombinant P48 (rP48) significantly reduced the numbers of viable NTHi recovered from the lung following challenge. rP48 induced predominantly an IgG2a antibody response that correlated with the reduction in the number of viable NTHi in the lung. 17379362 2007
CUI: C3151190
Disease: RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 48 		0.610 GeneticVariation disease UNIPROT Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. 15452722 2005
CUI: C3151190
Disease: RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 48 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C3151190
Disease: RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 48 		0.610 Biomarker disease CTD_human
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.520 Biomarker disease GENOMICS_ENGLAND Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. 21405999 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.520 Biomarker disease CTD_human We investigated mutations in the gene coding for guanylate-cyclase activating protein 2 (GCAP2), also known as GUCA1B gene, in Japanese patients with retinitis pigmentosa (RP) and tried to identify phenotypic characteristics associated with mutations in the gene. 15452722 2005
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.520 Biomarker disease BEFREE We investigated mutations in the gene coding for guanylate-cyclase activating protein 2 (GCAP2), also known as GUCA1B gene, in Japanese patients with retinitis pigmentosa (RP) and tried to identify phenotypic characteristics associated with mutations in the gene. 15452722 2005
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.520 GeneticVariation disease BEFREE Individual patients with atypical or recessive retinitis pigmentosa (RP) had additional heterozygous GCAP1-T114I and GCAP2 gene changes (V85M and F150C) of unknown pathogenicity. 15505030 2004
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. 21405999 2011
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0085636
Disease: Photophobia
Photophobia 		0.120 AlteredExpression phenotype BEFREE Surprisingly, we found that GCAP2 is expressed in cones and can regulate light sensitivity and response kinetics as well as light adaptation of GCAP1-deficient mouse cones. 29549122 2018
CUI: C0456909
Disease: Blindness
Blindness 		0.120 GeneticVariation phenotype BEFREE We gain further insight into the distinctive regulatory steps of GCAP2 distribution, by showing that a phosphomimic at position 201 is sufficient to retain GCAP2 at proximal compartments; and that the bovine equivalent to blindness-causative mutation G157R/GCAP2 results in enhanced phosphorylation in vitro and significant retention at the inner segment in vivo, as likely contributing factors to the pathophysiology. 29440717 2018
CUI: C0456909
Disease: Blindness
Blindness 		0.120 GeneticVariation phenotype BEFREE Instead, GCAP1 and GCAP2 bind with the cyclase molecule in a mutually exclusive manner using a common or overlapping binding site(s) in the Arg(488)-Arg(851) portion of RetGC1, and mutations in that region causing Leber congenital amaurosis blindness disrupt activation of the cyclase by both GCAP1 and GCAP2. 25616661 2015
CUI: C0085636
Disease: Photophobia
Photophobia 		0.120 Biomarker phenotype BEFREE This chapter focuses on recent data obtained from biochemical and electrophysiological studies of GCAP1/GCAP2 knockout mice and other GCAP transgenic mice, addressing: 1. the quantitative aspects of the Ca2+-feedback to Ret-GCs in regulating the light sensitivity and adaptation in intact rods; 2. functional differences between GCAP1 and GCAP2 in intact rod photoreceptors; and 3. whether GCAP mutants with impaired Ca2+ binding lead to retinal disease in vivo by constitutive activation of Ret-GCs and elevation of intracellular cGMP, as predicted from in vitro studies. 12596933 2002
CUI: C0085636
Disease: Photophobia
Photophobia 		0.120 Biomarker phenotype HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.120 Biomarker phenotype HPO
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.110 GeneticVariation disease BEFREE We therefore performed a mutation analysis of the GUCA1B gene in a clinically well characterized group of patients of European and North-American geographical origin with autosomal dominantly inherited cone dystrophy and cone rod dystrophy. 21405999 2011
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.110 Biomarker disease HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease HPO