GUCA1ANB-GUCA1A (GUCA1ANB-GUCA1A readthrough)

Gene

• Entrez ID: 118142757
• Gene name: GUCA1ANB-GUCA1A readthrough
• Gene symbol: GUCA1ANB-GUCA1A
• Synonyms (NCBI Gene): GUCA1A
• Chromosome: 6
• Chromosome location: 6p21.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IBA
GO:0001917	Component	Photoreceptor inner segment	IDA	9620085
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0007165	Process	Signal transduction	NAS	7983048
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9425234
GO:0007602	Process	Phototransduction	IEA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	IBA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	IEA
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	ISS
GO:0008048	Function	Calcium sensitive guanylate cyclase activator activity	TAS	9425234
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0010753	Process	Positive regulation of cGMP-mediated signaling	IEA
GO:0016020	Component	Membrane	IEA
GO:0030249	Function	Guanylate cyclase regulator activity	IEA
GO:0030249	Function	Guanylate cyclase regulator activity	IMP	30622141
GO:0030249	Function	Guanylate cyclase regulator activity	ISS
GO:0031284	Process	Positive regulation of guanylate cyclase activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0120199	Component	Cone photoreceptor outer segment	IBA
GO:0120199	Component	Cone photoreceptor outer segment	IDA	9620085
GO:0120199	Component	Cone photoreceptor outer segment	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Interactions View interactions

Pathways

KEGG:

Phototransduction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONE DYSTROPHY 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	28025326		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	20050595		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	31728034	Associate	★☆☆☆☆ Found in Text Mining only
Central areolar choroidal dystrophy	Central Areolar Choroidal Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	ORPHANET_DG	28125083		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	2009524, 8703954		★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	10507726, 15735604, 18706439, 19459154, 20213926, 20370318, 21405999, 28125083, 28785759, 31728034		★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	10507726, 15735604, 18706439, 19459154, 20213926, 28442884, 31728034, 33919796, 34639157, 9651312	Associate	★☆☆☆☆ Found in Text Mining only
CONE DYSTROPHY 3 (disorder)	Cone Dystrophy	UNIPROT_DG	11108966, 11146732, 11484154, 15505030, 15735604, 15790869, 19459154, 9425234		★☆☆☆☆ Found in Text Mining only
CONE DYSTROPHY 3 (disorder)	Cone Dystrophy	BEFREE	11484154, 21464903		★☆☆☆☆ Found in Text Mining only
CONE DYSTROPHY 3 (disorder)	Cone Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CONE DYSTROPHY 3 (disorder)	Cone Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
CONE DYSTROPHY 3 (disorder)	Cone Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	10430891, 11136713, 11146732, 12596936, 20370318, 23428504, 23472098, 24875811, 30184081, 31728034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	11136713, 11146732, 23428504, 23472098, 24875811, 30184081, 31728034		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	23428504, 26992781		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30480744		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	28125083		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Full thickness hole of macula lutea	Full Thickness Hole Of Macula Lutea	HPO_DG			★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	16020312, 25616661		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	20050595, 26100624	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28442884	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	28025326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Macular dystrophy	CLINVAR_DG	30718709, 9425234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	7748466		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	33109612	Associate	★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive Cone Dystrophy	Cone Dystrophy	BEFREE	15953638		★☆☆☆☆ Found in Text Mining only
Progressive cone dystrophy	Cone Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Progressive cone dystrophy (without rod involvement)	Progressive Cone Dystrophy	ORPHANET_DG	15735604, 9425234		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	19459154, 24024198	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30622141		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	31728034, 38453143	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	16186331, 31728034		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15505030, 16020312, 23428504, 9690896		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	28442884	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	9425234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	11136713, 11146732, 23428504, 23472098, 24875811, 30184081		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	8386657		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	CLINVAR_DG	30718709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vision Disorders	Visual disorder	Pubtator	15790869, 19459154, 24352742, 28442884, 31728034	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	9690896		★☆☆☆☆ Found in Text Mining only