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

    Gene ID: 14919, updated on 27-Nov-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; 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). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Gucy2e in Genome Data Viewer
    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. Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior. Yang RB, et al. J Neurosci, 1999 Jul 15. PMID 10407028, Free PMC Article
    3. Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice. Coleman JE, et al. Invest Ophthalmol Vis Sci, 2004 Oct. PMID 15452041
    4. GC1 deletion prevents light-dependent arrestin translocation in mouse cone photoreceptor cells. Coleman JE, et al. Invest Ophthalmol Vis Sci, 2005 Jan. PMID 15623748
    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 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 peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cGMP-mediated signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in receptor guanylyl cyclase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    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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