GUCY2D

GENE INFORMATION

? »

Gene name

GUCY2D (HGNC Symbol)

Synonyms

CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, retGC, RETGC-1, ROS-GC1

Description

guanylate cyclase 2D, membrane (retina-specific) (HGNC Symbol)

Entrez gene summary

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, Dec 2008]

Chromosome

17 (Chromosome progress)

Cytoband

p13.1

Chromosome location (bp)

7905912 - 7923657

Ensembl

ENSG00000132518 (version 73.37)

Entrez gene

3000

UniProt

Q02846 (UniProt - Evidence at protein level)

neXtProt

NX_Q02846

Antibodypedia

GUCY2D antibodies
 

PROTEIN VIEW

? »
 
 
 
GUCY2D-001
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GUCY2D-001 ENSP00000254854
ENST00000254854
Q02846
Show all »
Show » Show » 1103 120.1 No 1