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Gucy2e guanylate cyclase 2e [ Mus musculus (house mouse) ]

Gene ID: 14919, updated on 18-Apr-2024

Summary

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Official Symbol
Gucy2eprovided by MGI
Official Full Name
guanylate cyclase 2eprovided by MGI
Primary source
MGI:MGI:105123
See related
Ensembl:ENSMUSG00000020890 AllianceGenome:MGI:105123
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
GC1; GC-E; ROS-GC1
Summary
Enables guanylate cyclase activity. Involved in cGMP biosynthetic process. Located in photoreceptor outer segment membrane. Is expressed in dorsal root ganglion and retina outer nuclear layer. 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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Location:
11 B3; 11 42.51 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (69108943..69128083, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (69218117..69237279, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene arachidonate 12-lipoxygenase, 12R type Neighboring gene arachidonate 8-lipoxygenase Neighboring gene STARR-positive B cell enhancer ABC_E8418 Neighboring gene predicted gene, 23194 Neighboring gene predicted gene, 40039 Neighboring gene STARR-positive B cell enhancer ABC_E3964

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e. Naggert ASEN, et al. Front Mol Neurosci, 2022. PMID 36698779, Free PMC Article
  2. Distinct functions of soluble guanylyl cyclase isoforms NO-GC1 and NO-GC2 in inflammatory and neuropathic pain processing. Petersen J, et al. Pain, 2019 Mar. PMID 30422870
  3. Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. Boye SL, et al. Invest Ophthalmol Vis Sci, 2011 Sep 9. PMID 21778276, Free PMC Article
  4. Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. Boye SE, et al. PLoS One, 2010 Jun 25. PMID 20593011, Free PMC Article
  5. Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1. Haire SE, et al. Invest Ophthalmol Vis Sci, 2006 Sep. PMID 16936082, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Angiotensin II-Induced Cardiovascular Fibrosis Is Attenuated by NO-Sensitive Guanylyl Cyclase1.
    Title: Angiotensin II-Induced Cardiovascular Fibrosis Is Attenuated by NO-Sensitive Guanylyl Cyclase1.
  2. This study showeg that the 2 guanylyl cyclase isoforms NO-GC1 and NO-GC2 are distinctly expressed in neuronal subpopulations of the spinal dorsal horn and in non-neuronal cells of DRG.
    Title: Distinct functions of soluble guanylyl cyclase isoforms NO-GC1 and NO-GC2 in inflammatory and neuropathic pain processing.
  3. The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1.
    Title: Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs).
  4. Mouse photoreceptor ROS-GC1 is a bimodal Ca2+ transduction switch.
    Title: S100B serves as a Ca(2+) sensor for ROS-GC1 guanylate cyclase in cones but not in rods of the murine retina.
  5. Data show that effective knockdown of GUCY2E and CNGA1 expression to counteract loss of PDE6 function may develop into a valuable approach for treating some patients with RP.
    Title: shRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosa.
  6. functional kinase homology domain is essential for GC1 activity
    Title: A functional kinase homology domain is essential for the activity of photoreceptor guanylate cyclase 1.
  7. guanylate cyclase 1 and guanylate cyclase 2 have roles in function of rod and cone photoreceptors
    Title: The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Spontaneous (1) 
  • Targeted (1)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanylate cyclase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanylate cyclase activity ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphorus-oxygen lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cGMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cGMP-mediated signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in cyclic nucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in receptor guanylyl cyclase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
  
located_in photoreceptor outer segment membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor outer segment membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
retinal guanylyl cyclase 1
Names
guanylyl cyclase 2e
guanylyl cyclase GC-E
NP_032218.2
XP_006532307.1
XP_036012232.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008192.3 → NP_032218.2  retinal guanylyl cyclase 1 precursor

    See identical proteins and their annotated locations for NP_032218.2

    Status: VALIDATED

    Source sequence(s)
    AL645527, BB591650, BC057954
    Consensus CDS
    CCDS24887.1
    UniProtKB/Swiss-Prot
    B1ASX7, P52785
    Related
    ENSMUSP00000021259.3, ENSMUST00000021259.9
    Conserved Domains (4) summary
    smart00044
    Location:848 → 1039
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14043
    Location:539 → 814
    PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D
    pfam07701
    Location:823 → 868
    HNOBA; Heme NO binding associated
    cd06371
    Location:58 → 434
    PBP1_sensory_GC_DEF-like; ligand-binding domain of membrane guanylyl cyclases (GC-D, GC-E, and GC-F) that are specifically expressed in sensory tissues

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    69108943..69128083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156339.1 → XP_036012232.1  retinal guanylyl cyclase 1 isoform X1

    Conserved Domains (4) summary
    smart00044
    Location:879 → 1070
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14043
    Location:570 → 845
    PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D
    cd06371
    Location:58 → 465
    PBP1_sensory_GC_DEF-like; ligand-binding domain of membrane guanylyl cyclases (GC-D, GC-E, and GC-F) that are specifically expressed in sensory tissues
    pfam07701
    Location:854 → 899
    HNOBA; Heme NO binding associated

  2. XM_006532244.4 → XP_006532307.1  retinal guanylyl cyclase 1 isoform X2

    See identical proteins and their annotated locations for XP_006532307.1

    UniProtKB/Swiss-Prot
    B1ASX7, P52785
    Related
    ENSMUSP00000104304.2, ENSMUST00000108664.2
    Conserved Domains (4) summary
    smart00044
    Location:848 → 1039
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    cd14043
    Location:539 → 814
    PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D
    pfam07701
    Location:823 → 868
    HNOBA; Heme NO binding associated
    cd06371
    Location:58 → 434
    PBP1_sensory_GC_DEF-like; ligand-binding domain of membrane guanylyl cyclases (GC-D, GC-E, and GC-F) that are specifically expressed in sensory tissues
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P52785.2 GenPept UniProtKB/Swiss-Prot:P52785

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