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    GUCY2D guanylate cyclase 2D, retinal [ Homo sapiens (human) ]

    Gene ID: 3000, updated on 8-Jul-2021

    Summary

    Official Symbol
    GUCY2Dprovided by HGNC
    Official Full Name
    guanylate cyclase 2D, retinalprovided by HGNC
    Primary source
    HGNC:HGNC:4689
    See related
    Ensembl:ENSG00000132518 MIM:600179
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCA; CG-E; CYGD; LCA1; RCD2; CACD1; CORD5; CORD6; GUC2D; ROSGC; retGC; CSNB1I; GUC1A4; RETGC-1; ROS-GC1
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    See GUCY2D in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8002615..8020342)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7905933..7923660)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene centrobin, centriole duplication and spindle assembly protein Neighboring gene uncharacterized LOC105371517 Neighboring gene arachidonate 15-lipoxygenase type B Neighboring gene arachidonate lipoxygenase 3 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 binding causes increased expression of guanylate cyclase 2D (GUCY2D) in T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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
    PubMed 
    enables guanylate cyclase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanylate cyclase activity TAS
    Traceable Author Statement
    more info
     
    enables peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cGMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    involved_in regulation of rhodopsin mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nuclear outer membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
     
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    retinal guanylyl cyclase 1
    Names
    ROS-GC
    cone rod dystrophy 6
    guanylate cyclase 2D, membrane (retina-specific)
    retinal guanylate cyclase 1
    rod outer segment membrane guanylate cyclase
    NP_000171.1
    XP_011522118.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009092.1 RefSeqGene

      Range
      4946..22673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000180.4NP_000171.1  retinal guanylyl cyclase 1

      See identical proteins and their annotated locations for NP_000171.1

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS11127.1
      UniProtKB/Swiss-Prot
      Q02846
      Related
      ENSP00000254854.4, ENST00000254854.5
      Conserved Domains (4) summary
      smart00044
      Location:8461036
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      cd14043
      Location:536811
      PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D
      pfam07701
      Location:820865
      HNOBA; Heme NO binding associated
      cd06371
      Location:55431
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      8002615..8020342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523816.1XP_011522118.1  retinal guanylyl cyclase 1 isoform X1

      See identical proteins and their annotated locations for XP_011522118.1

      UniProtKB/Swiss-Prot
      Q02846
      Conserved Domains (4) summary
      smart00044
      Location:8461036
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      cd14043
      Location:536811
      PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D
      pfam07701
      Location:820865
      HNOBA; Heme NO binding associated
      cd06371
      Location:55431
      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
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