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

    Gene ID: 3000, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:4689
    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; CACD; 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
    mouse all
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    Genomic context

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    See GUCY2D in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8002615..8020342)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7908012..7925755)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7905933..7923660)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11657 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7836395-7836572 Neighboring gene trafficking protein particle complex subunit 1 Neighboring gene centrobin, centriole duplication and spindle assembly protein Neighboring gene MPRA-validated peak2715 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7920053-7920233 Neighboring gene uncharacterized LOC124904131 Neighboring gene arachidonate 15-lipoxygenase type B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Milam AH, et al. Ophthalmology, 2003 Mar. PMID 12623820
    2. Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene. Khan MA, et al. J Genet, 2014 Aug. PMID 25189253
    3. A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. Mukherjee R, et al. Eye (Lond), 2014 Apr. PMID 24480840, Free PMC Article
    4. Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D. Xu F, et al. Doc Ophthalmol, 2013 Jun. PMID 23686677
    5. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Jacobson SG, et al. Hum Mol Genet, 2013 Jan 1. PMID 23035049, Free PMC Article

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.
      Title: A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.
    2. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
      Title: Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
    3. Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
      Title: Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
    4. The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
      Title: The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
    5. Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
      Title: Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
    6. Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
      Title: Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
    7. Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
      Title: Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
    8. Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
      Title: Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
    9. Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
      Title: Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
    10. GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
      Title: GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
    Submit: New GeneRIF Correction See all GeneRIFs (65)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Choroidal dystrophy, central areolar, 1
    MedGen: C4551884 OMIM: 215500 GeneReviews: Not available
    		not available
    Cone-rod dystrophy 6
    MedGen: C1866293 OMIM: 601777 GeneReviews: Not available
    		not available
    Leber congenital amaurosis 1
    MedGen: C2931258 OMIM: 204000 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
    		not available
    Night blindness, congenital stationary, type1i
    MedGen: C5231408 OMIM: 618555 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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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 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
    		  
    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
    		  
    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 protein-containing complex binding 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
    		  
    involved_in cGMP-mediated signaling 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
    		  
    involved_in regulation of opsin-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    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 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
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    retinal guanylyl cyclase 1
    Names
    ROS-GC
    central areolar choroidal dystrophy
    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
    XP_054171864.1

    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.

    Genomic

    1. NG_009092.1 RefSeqGene

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

    mRNA and Protein(s)

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

      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, Q6LEA7
      Related
      ENSP00000254854.4, ENST00000254854.5
      Conserved Domains (4) summary
      smart00044
      Location:846 → 1036
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      cd14043
      Location:536 → 811
      PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D
      pfam07701
      Location:820 → 865
      HNOBA; Heme NO binding associated
      cd06371
      Location:55 → 431
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011523816.2 → XP_011522118.1  retinal guanylyl cyclase 1 isoform X1

      See identical proteins and their annotated locations for XP_011522118.1

      UniProtKB/Swiss-Prot
      Q02846, Q6LEA7
      Conserved Domains (4) summary
      smart00044
      Location:846 → 1036
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      cd14043
      Location:536 → 811
      PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D
      pfam07701
      Location:820 → 865
      HNOBA; Heme NO binding associated
      cd06371
      Location:55 → 431
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7908012..7925755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315889.1 → XP_054171864.1  retinal guanylyl cyclase 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02846.2 GenPept UniProtKB/Swiss-Prot:Q02846

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