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Protein Coding Gene : Gucy2e guanylate cyclase 2e

Primary Identifier  MGI:105123 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  14919
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables guanylate cyclase activity. Involved in cGMP biosynthetic process. Located in photoreceptor outer segment membrane. Is expressed in dorsal root ganglion; retina outer nuclear layer; and spinal cord. Used to study Leber congenital amaurosis 1 and cone-rod dystrophy 6. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 1; choroidal sclerosis; cone-rod dystrophy 6; congenital stationary night blindness; and retinitis pigmentosa. Orthologous to human GUCY2D (guanylate cyclase 2D, retinal).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration. [provided by MGI curators]
  • synonyms:
  • cDNA sequence BC020186,
  • ROS-GC1,
  • guanylate cyclase 2e,
  • MGD-MRK-32164,
  • Gucy2e,
  • GC1,
  • MGI:3528170,
  • BC020186,
  • GC-E

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For