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

Gene ID: 3000, updated on 27-Jun-2020

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

Genomic context

See GUCY2D in Genome Data Viewer
Location:
17p13.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8002615..8020342)
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 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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
guanylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanylate cyclase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cGMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
receptor guanylyl cyclase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
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
 
photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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 (7) 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
    pfam00211
    Location:8711058
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam01094
    Location:87399
    ANF_receptor; Receptor family ligand binding region
    pfam07701
    Location:820865
    HNOBA; Heme NO binding associated
    pfam07714
    Location:554798
    Pkinase_Tyr; Protein tyrosine kinase
    cl10011
    Location:55431
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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 (7) 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
    pfam00211
    Location:8711058
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam01094
    Location:87399
    ANF_receptor; Receptor family ligand binding region
    pfam07701
    Location:820865
    HNOBA; Heme NO binding associated
    pfam07714
    Location:554798
    Pkinase_Tyr; Protein tyrosine kinase
    cl10011
    Location:55431
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
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