GenTIGS

Guanylate cyclase 2D, retinal (GUCY2D) Associated conditions: 1. Leber congenital amaurosis 2. Cone rod dystrophy

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000180.4	NP_000171.1	NC_000017.11	(8002614..8020341)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1105 reference articles

Variant Information Guanylate cyclase 2D, retinal (GUCY2D) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Guanylate cyclase 2D, retinal (GUCY2D)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IBA	enables	peptide receptor activity	Function	-
3	Homo sapiens	IDA	located_in	photoreceptor outer segment	Component	7912093
4	Homo sapiens	IBA	enables	guanylate cyclase activity	Function	-
5	Homo sapiens	IDA	enables	guanylate cyclase activity	Function	21928830 30319355
6	Homo sapiens	IEA	enables	guanylate cyclase activity	Function	-
7	Homo sapiens	TAS	enables	guanylate cyclase activity	Function	9888789
8	Homo sapiens	IEA	enables	protein kinase activity	Function	-
9	Homo sapiens	IPI	enables	protein binding	Function	21078983 21124868
10	Homo sapiens	IEA	enables	ATP binding	Function	-
11	Homo sapiens	IEA	enables	GTP binding	Function	-
12	Homo sapiens	IEA	located_in	nuclear outer membrane	Component	-
13	Homo sapiens	TAS	located_in	nuclear outer membrane	Component	7777544
14	Homo sapiens	IDA	located_in	endoplasmic reticulum membrane	Component	30319355
15	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
16	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
17	Homo sapiens	ISS	located_in	plasma membrane	Component	-
18	Homo sapiens	TAS	located_in	plasma membrane	Component	1356371
19	Homo sapiens	IBA	involved_in	cGMP biosynthetic process	Process	-
20	Homo sapiens	IEA	involved_in	cGMP biosynthetic process	Process	-
21	Homo sapiens	IBA	involved_in	receptor guanylyl cyclase signaling pathway	Process	-
22	Homo sapiens	TAS	involved_in	receptor guanylyl cyclase signaling pathway	Process	1356371
23	Homo sapiens	IEA	involved_in	visual perception	Process	-
24	Homo sapiens	TAS	involved_in	visual perception	Process	9888789
25	Homo sapiens	IEA	involved_in	cyclic nucleotide biosynthetic process	Process	-
26	Homo sapiens	IEA	enables	lyase activity	Function	-
27	Homo sapiens	IEA	enables	phosphorus-oxygen lyase activity	Function	-
28	Homo sapiens	IEA	involved_in	regulation of opsin-mediated signaling pathway	Process	-
29	Homo sapiens	TAS	involved_in	regulation of opsin-mediated signaling pathway	Process	-
30	Homo sapiens	IEA	involved_in	intracellular signal transduction	Process	-
31	Homo sapiens	TAS	enables	signaling receptor activity	Function	1356371
32	Homo sapiens	IBA	is_active_in	photoreceptor outer segment membrane	Component	-
33	Homo sapiens	IEA	located_in	photoreceptor outer segment membrane	Component	-
34	Homo sapiens	IEA	enables	identical protein binding	Function	-
35	Homo sapiens	IEA	enables	protein homodimerization activity	Function	-
36	Homo sapiens	ISS	enables	protein homodimerization activity	Function	-
37	Homo sapiens	IEA	involved_in	cGMP metabolic process	Process	-
38	Homo sapiens	IEA	enables	protein heterodimerization activity	Function	-
39	Homo sapiens	IEA	located_in	photoreceptor disc membrane	Component	-
40	Homo sapiens	TAS	located_in	photoreceptor disc membrane	Component	-
41	Homo sapiens	IEA	located_in	rod photoreceptor disc membrane	Component	-