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GUCY2D guanylate cyclase 2D, membrane (retina-specific) [ Homo sapiens (human) ]

Gene ID: 3000, updated on 25-Jul-2014
Official Symbol
GUCY2Dprovided by HGNC
Official Full Name
guanylate cyclase 2D, membrane (retina-specific)provided by HGNC
Primary source
HGNC:4689
See related
Ensembl:ENSG00000132518; HPRD:02550; MIM:600179; Vega:OTTHUMG00000108169
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; CYGD; LCA1; RCD2; CORD5; CORD6; GUC2D; ROSGC; retGC; 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]
See GUCY2D in Epigenomics, MapViewer
Location:
17p13.1
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (8002670..8020340)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7905988..7923658)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex 1 Neighboring gene centrobin, centrosomal BRCA2 interacting protein Neighboring gene arachidonate 15-lipoxygenase, type B Neighboring gene arachidonate lipoxygenase 3 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein Interaction Database

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
  • Olfactory transduction, organism-specific biosystem (from KEGG)
    Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
  • Olfactory transduction, conserved biosystem (from KEGG)
    Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
  • Phototransduction, organism-specific biosystem (from KEGG)
    Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Phototransduction, conserved biosystem (from KEGG)
    Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • The phototransduction cascade, organism-specific biosystem (from REACTOME)
    The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Visual signal transduction: Cones, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Cones, organism-specific biosystem
    Visual signal transduction: Cones
  • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Rods, organism-specific biosystem
    Visual signal transduction: Rods
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
guanylate cyclase activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cGMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
phototransduction, visible light TAS
Traceable Author Statement
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
receptor guanylyl cyclase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear outer membrane TAS
Traceable Author Statement
more info
PubMed 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
Preferred Names
retinal guanylyl cyclase 1
Names
retinal guanylyl cyclase 1
ROS-GC
cone rod dystrophy 6
guanylate cyclase 2D, retinal
rod outer segment membrane guanylate cyclase
NP_000171.1

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 

    Range
    5001..22671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000180.3NP_000171.1  retinal guanylyl cyclase 1

    See proteins identical to NP_000171.1

    Status: REVIEWED

    Source sequence(s)
    AC104581, BM931704, M92432
    Consensus CDS
    CCDS11127.1
    UniProtKB/Swiss-Prot
    Q02846
    Related
    ENSP00000254854, OTTHUMP00000135309, ENST00000254854, OTTHUMT00000226973
    Conserved Domains (7) summary
    cd06371
    Location:55431
    Blast Score: 1364
    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
    cd07302
    Location:8781056
    Blast Score: 536
    CHD; cyclase homology domain
    smart00044
    Location:8461036
    Blast Score: 725
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam01094
    Location:87399
    Blast Score: 386
    ANF_receptor; Receptor family ligand binding region
    pfam07701
    Location:846865
    Blast Score: 103
    HNOBA; Heme NO binding associated
    pfam07714
    Location:554798
    Blast Score: 293
    Pkinase_Tyr; Protein tyrosine kinase
    cl09925
    Location:584799
    Blast Score: 271
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    8002670..8020340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    7800798..7818448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    7914754..7932424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)