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Gene : GUCY2D Homo sapiens

Name  ? guanylate cyclase 2D, retinal Cytological Location  17p13.1
Brief Description  guanylate cyclase 2D, retinal
Description  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]
  • synonyms:
  • GUC2D,
  • ROSGC,
  • retGC,
  • CORD6,
  • CSNB1I,
  • GUC2D,
  • uc002gjt.3,
  • RETGC-1,
  • CYGD,
  • rod outer segment membrane guanylate cyclase,
  • GUCY2D,
  • retinal guanylate cyclase 1,
  • ROS-GC1,
  • CORD5,
  • NM_000180,
  • guanylate cyclase 2D, membrane (retina-specific),
  • CG-E,
  • LCA1,
  • LCA,
  • RCD2,
  • HGNC:4689,
  • ROS-GC1,
  • CACD1,
  • RETGC-1,
  • GUC1A4,
  • GUC1A4,
  • L26921,
  • LCA,
  • LCA1,
  • retGC,
  • CYGD,
  • CORD6,
  • OTTHUMG00000108169,
  • cone rod dystrophy 6
  • identifiers:
  • 3000,
  • ENSG00000132518,
  • GUCY2D

Genome feature

Region: gene ? Length: 17728  
Location: 17:8002615-8020342 Cyto location: 17p13.1


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Proteins

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Disease

4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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329 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results