Gene Report

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Basic Info

Approved Symbol	GUCA1A
Previous Symbol	GUCA, GUCA1, C6orf131
Symbol Alias	GCAP, GCAP1, COD3, dJ139D8.6, CORD14
Approved Name	guanylate cyclase activator 1A (retina)
Previous Name	chromosome 6 open reading frame 131
Name Alias	cone dystrophy 3
Location	6p21.1
Position	chr6:42155406-42180056, 1
External Links	HGNC: 4678 Entrez Gene: 2978 Ensembl: ENSG00000048545 UCSC: uc003orx.3
No. of Studies	2 (Positive: 0; Negative: 1; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgi, B., 2014	SNP: rs200275941	Amish-specific putative damaging exonic missense variant was found within this gene.	Trend	Comment on Study
Xu, W., 2014	SNP: rs2492922	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA	360
GO:0005509	calcium ion binding	molecular function	IEA	50

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0097381	photoreceptor disc membrane	cellular component	TAS	1
GO:0016056	rhodopsin mediated signaling pathway	biological process	TAS	1
GO:0001917	photoreceptor inner segment	cellular component	IEA	3
GO:0008048	calcium sensitive guanylate cyclase activator activity	molecular function	IEA	1
GO:0007601	visual perception	biological process	IEA	15
GO:0031284	positive regulation of guanylate cyclase activity	biological process	IEA	4
GO:0007165	signal transduction	biological process	NAS[7983048]	136
GO:0022400	regulation of rhodopsin mediated signaling pathway	biological process	TAS	1
GO:0007603	phototransduction, visible light	biological process	TAS	6

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04740	Olfactory transduction	11

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GUCA1A	GUCY2D	NO	in vitro	9931003

Related other genetic factors

Gene related SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs200275941	chr6:42178305 - 42178305(1)	missense_variant	1(0/0/1)
rs2492922	chr6:42171985 - 42171985(1)	intron_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs10948025	chr6:42170977 - 42170977(1)	intron_variant; upstream_gene_variant
rs6937603	chr6:42173588 - 42173588(1)	5_prime_UTR_variant
rs10948022	chr6:42168917 - 42168917(1)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_140	chr6:41949777-42425545 (Affymetrix SNP 6.0 array reference genome)	475768		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p21.1	chr6:40500000-46200000	1 (0/1/0)
6p21	chr6:30500000-46200000	1 (0/1/0)
6p23-p21.1	chr6:13400000-46200000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:42155406..42180056 View in gBrowse