GUCY2D

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq]

Full Name

guanylate cyclase 2D, membrane (retina-specific)

Function

Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:21928830, PubMed:30319355, PubMed:26100624, PubMed:9600905, PubMed:15123990).

May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity).

Biological Process

cGMP biosynthetic process Source: GO_Central
cGMP-mediated signaling Source: Ensembl
Receptor guanylyl cyclase signaling pathway Source: GO_Central
Regulation of rhodopsin mediated signaling pathway Source: Reactome
Signal transduction Source: GO_Central
Visual perception Source: ProtInc

Cellular Location

Endoplasmic reticulum membrane; Photoreceptor outer segment membrane

Involvement in disease

Leber congenital amaurosis 1 (LCA1):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Cone-rod dystrophy 6 (CORD6):
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Choroidal dystrophy, central areolar, 1 (CACD1):
A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive.
Night blindness, congenital stationary, 1I (CSNB1I):
A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive.

Topology

Extracellular: 52-462
Helical: 463-487
Cytoplasmic: 488-1103