About   Help   FAQ
Gucy2e Gene Detail
Summary
  • Symbol
    Gucy2e
  • Name
    guanylate cyclase 2e
  • Synonyms
    GC1, GC-E, ROS-GC1
  • Feature Type
    protein coding gene
  • IDs
    MGI:105123
    NCBI Gene: 14919
  • Gene Overview
    MyGene.info: GUCY2D
Location & Maps
more
  • Sequence Map
    Chr11:69218120-69237036 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18917 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 42.51 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    GUCY2D, guanylate cyclase 2D, retinal
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GUCY2D, guanylate cyclase 2D, retinal
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, retGC, RETGC-1, ROSGC, ROS-GC1
  • Links
    NCBI Gene ID: 3000
    neXtProt AC: NX_Q02846

  • Chr Location
    17p13.1; chr17:8002670-8020340 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gucy2e mouse models; 2 with human GUCY2D associations

Human Disease Mouse Models
       Cone-Rod Dystrophy 6; CORD6   OMIM: 601777 View 1 model
       Leber Congenital Amaurosis 1; LCA1   OMIM: 204000 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 2 genetic backgrounds
    8 phenotypes from multigenic genotypes
    2 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Gucy2e
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005963 VEGA Gene Model | MGI Sequence Detail 18917 C57BL/6J ±  kb
transcript OTTMUST00000013316 VEGA | MGI Sequence Detail 3645 Not Applicable  
polypeptide OTTMUSP00000006167 VEGA | MGI Sequence Detail 1108 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    319 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000008353 retinal guanylyl cyclase 1
  • EC
  • InterPro Domains
    IPR001054 Adenylyl cyclase class-3/4/guanylyl cyclase
    IPR018297 Adenylyl cyclase class-4/guanylyl cyclase, conserved site
    IPR011645 Haem NO binding associated
    IPR029787 Nucleotide cyclase
    IPR028082 Periplasmic binding protein-like I
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR001828 Receptor, ligand binding region
    IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
Molecular
Reagents
less
  • All nucleic 28
    Genomic 2
    cDNA 24
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-32164, MGI:3528170
References
more
  • Summaries
    All 45
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 4
    Phenotypes 23
  • Earliest
    J:31346 Yang RB, et al., Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. Genomics. 1996 Feb 1;31(3):367-72
  • Latest
    J:228142 Pearring JN, et al., Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking. Elife. 2015;4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory