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

Gene ID: 3000, updated on 22-Sep-2022

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; 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; 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
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8002615..8020342)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7908028..7925755)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7905933..7923660)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 1 Neighboring gene centrobin, centriole duplication and spindle assembly protein Neighboring gene small nucleolar RNA U13 Neighboring gene arachidonate 15-lipoxygenase type B

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 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
PubMed 
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
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 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, Q6LEA7
    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 Annotation Release 110 details...Open this link in a new tab

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_011523816.2XP_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: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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7908028..7925755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)