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

Gene ID: 3000, updated on 14-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
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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 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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