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Aliases for GUCY2D Gene

Aliases for GUCY2D Gene

  • Guanylate Cyclase 2D, Membrane (Retina-Specific) 2 3
  • Rod Outer Segment Membrane Guanylate Cyclase 2 3 4
  • CORD6 3 4 6
  • GUC2D 3 4 6
  • Guanylate Cyclase 2D, Retinal 3 4
  • Retinal Guanylate Cyclase 1 2 3
  • Cone Rod Dystrophy 6 2 3
  • EC 4.6.1.2 4 63
  • RETGC-1 3 4
  • GUC1A4 3 4
  • ROS-GC 3 4
  • RetGC 3 4
  • LCA1 3 6
  • RCD2 3 6
  • Retinal Guanylyl Cyclase 1 3
  • EC 4.6.1 63
  • ROS-GC1 3
  • RETGC1 4
  • CORD5 3
  • ROSGC 3
  • CYGD 3
  • LCA 3

External Ids for GUCY2D Gene

Previous HGNC Symbols for GUCY2D Gene

  • CORD6
  • LCA
  • GUC2D
  • GUC1A4

Previous GeneCards Identifiers for GUCY2D Gene

  • GC17P008372
  • GC17P008777
  • GC17P007848
  • GC17P008106
  • GC17P007846
  • GC17P007905

Summaries for GUCY2D Gene

Entrez Gene Summary for GUCY2D Gene

  • 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]

GeneCards Summary for GUCY2D Gene

GUCY2D (Guanylate Cyclase 2D, Membrane (Retina-Specific)) is a Protein Coding gene. Diseases associated with GUCY2D include leber congenital amaurosis 1 and cone-rod dystrophy 6. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include identical protein binding and receptor activity. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot for GUCY2D Gene

  • Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUCY2D Gene

Genomics for GUCY2D Gene

Regulatory Elements for GUCY2D Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GUCY2D Gene

Start:
8,002,594 bp from pter
End:
8,020,340 bp from pter
Size:
17,747 bases
Orientation:
Plus strand

Genomic View for GUCY2D Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GUCY2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCY2D Gene

Proteins for GUCY2D Gene

  • Protein details for GUCY2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02846-GUC2D_HUMAN
    Recommended name:
    Retinal guanylyl cyclase 1
    Protein Accession:
    Q02846
    Secondary Accessions:
    • Q6LEA7

    Protein attributes for GUCY2D Gene

    Size:
    1103 amino acids
    Molecular mass:
    120059 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GUCY2D Gene

neXtProt entry for GUCY2D Gene

Proteomics data for GUCY2D Gene at MOPED

Post-translational modifications for GUCY2D Gene

  • Glycosylation at Asn297
  • Modification sites at PhosphoSitePlus

Other Protein References for GUCY2D Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GUCY2D Gene

Suggested Antigen Peptide Sequences for GUCY2D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02846

UniProtKB/Swiss-Prot:

GUC2D_HUMAN :
  • Q02846
Domain:
  • Contains 1 guanylate cyclase domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with GUCY2D: view

Function for GUCY2D Gene

Molecular function for GUCY2D Gene

GENATLAS Biochemistry: guanylate cyclase 2D,photoreceptor specific,likely homologous to murine Gucy2d,expressed in the retina,in the rod outer segment,activated at nanomolar concentrations of Ca2 by Ca2+ binding proteins and involved in phosphotransduction,stimulated at micromolar concentrations of Ca2+ by S100 beta and involved in retinal synaptic activity
UniProtKB/Swiss-Prot CatalyticActivity: GTP = 3,5-cyclic GMP + diphosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Activated by GCAP-1; inhibited by calcium
UniProtKB/Swiss-Prot Function: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction

Enzyme Numbers (IUBMB) for GUCY2D Gene

Gene Ontology (GO) - Molecular Function for GUCY2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004383 guanylate cyclase activity IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0004872 receptor activity TAS 1356371
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with GUCY2D: view

Phenotypes for GUCY2D Gene

genes like me logo Genes that share phenotypes with GUCY2D: view

Animal Models for GUCY2D Gene

MGI Knock Outs for GUCY2D:

Animal Model Products

CRISPR Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for GUCY2D Gene

Localization for GUCY2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCY2D Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GUCY2D Gene COMPARTMENTS Subcellular localization image for GUCY2D gene
Compartment Confidence
nucleus 4
plasma membrane 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GUCY2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane TAS 7777544
GO:0005887 integral component of plasma membrane TAS 1356371
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GUCY2D: view

Pathways for GUCY2D Gene

genes like me logo Genes that share pathways with GUCY2D: view

Gene Ontology (GO) - Biological Process for GUCY2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006182 cGMP biosynthetic process IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007168 receptor guanylyl cyclase signaling pathway TAS 1356371
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
genes like me logo Genes that share ontologies with GUCY2D: view

Compounds for GUCY2D Gene

(5) HMDB Compounds for GUCY2D Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(9) Novoseek inferred chemical compound relationships for GUCY2D Gene

Compound -log(P) Hits PubMed IDs
guanylate 87 65
cgmp 75.6 19
amp-pnp 47.8 4
calcium 47.6 62
gtp 19.9 1
genes like me logo Genes that share compounds with GUCY2D: view

Transcripts for GUCY2D Gene

mRNA/cDNA for GUCY2D Gene

(7) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GUCY2D Gene

Guanylate cyclase 2D, membrane (retina-specific):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GUCY2D

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for GUCY2D

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUCY2D Gene

No ASD Table

Relevant External Links for GUCY2D Gene

GeneLoc Exon Structure for
GUCY2D
ECgene alternative splicing isoforms for
GUCY2D

Expression for GUCY2D Gene

mRNA expression in normal human tissues for GUCY2D Gene

mRNA differential expression in normal tissues according to GTEx for GUCY2D Gene

This gene is overexpressed in Testis (15.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GUCY2D Gene

SOURCE GeneReport for Unigene cluster for GUCY2D Gene Hs.592109

mRNA Expression by UniProt/SwissProt for GUCY2D Gene

Q02846-GUC2D_HUMAN
Tissue specificity: Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells
genes like me logo Genes that share expressions with GUCY2D: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GUCY2D Gene

Orthologs for GUCY2D Gene

This gene was present in the common ancestor of animals.

Orthologs for GUCY2D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUCY2D 35
  • 99.58 (n)
  • 99.46 (a)
GUCY2D 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GUCY2D 35
  • 86.04 (n)
  • 86.58 (a)
GUCY2D 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GUCY2D 35
  • 86.97 (n)
  • 87.13 (a)
GUCY2D 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gucy2e 35
  • 82.2 (n)
  • 85.22 (a)
Gucy2e 16
Gucy2e 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GUCY2D 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2D 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gucy2e 35
  • 82.17 (n)
  • 84.77 (a)
lizard
(Anolis carolinensis)
Reptilia GUCY2D 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy2d 35
  • 60.78 (n)
  • 59.9 (a)
zebrafish
(Danio rerio)
Actinopterygii gc3 35
  • 58.3 (n)
  • 54.67 (a)
gc3 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34357 36
  • 22 (a)
OneToMany
CG9783 37
  • 53 (a)
CG5719 37
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-11 36
  • 19 (a)
ManyToMany
gcy-1 36
  • 26 (a)
ManyToMany
gcy-11 36
  • 23 (a)
ManyToMany
gcy-13 36
  • 29 (a)
ManyToMany
gcy-14 36
  • 24 (a)
ManyToMany
gcy-17 36
  • 23 (a)
ManyToMany
gcy-18 36
  • 23 (a)
ManyToMany
gcy-19 36
  • 24 (a)
ManyToMany
gcy-2 36
  • 25 (a)
ManyToMany
gcy-20 36
  • 25 (a)
ManyToMany
gcy-22 36
  • 30 (a)
ManyToMany
gcy-23 36
  • 25 (a)
ManyToMany
gcy-25 36
  • 23 (a)
ManyToMany
gcy-27 36
  • 25 (a)
ManyToMany
gcy-3 36
  • 25 (a)
ManyToMany
gcy-4 36
  • 24 (a)
ManyToMany
gcy-6 36
  • 26 (a)
ManyToMany
gcy-7 36
  • 27 (a)
ManyToMany
gcy-8 36
  • 23 (a)
ManyToMany
gcy-9 36
  • 24 (a)
ManyToMany
odr-1 36
  • 21 (a)
ManyToMany
gcy-19 37
  • 42 (a)
gcy-31 37
  • 41 (a)
gcy-11 37
  • 33 (a)
gcy-21 37
  • 43 (a)
gcy-13 37
  • 42 (a)
gcy-4 37
  • 40 (a)
gcy-3 37
  • 37 (a)
gcy-20 37
  • 38 (a)
daf-11 37
  • 30 (a)
gcy-23 37
  • 35 (a)
gcy-27 37
  • 33 (a)
odr-1 37
  • 33 (a)
gcy-2 37
  • 39 (a)
gcy-15 37
  • 42 (a)
gcy-22 37
  • 44 (a)
gcy-8 37
  • 36 (a)
gcy-14 37
  • 37 (a)
Species with no ortholog for GUCY2D:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUCY2D Gene

ENSEMBL:
Gene Tree for GUCY2D (if available)
TreeFam:
Gene Tree for GUCY2D (if available)

Paralogs for GUCY2D Gene

Selected SIMAP similar genes for GUCY2D Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for GUCY2D Gene

genes like me logo Genes that share paralogs with GUCY2D: view

Variants for GUCY2D Gene

Sequence variations from dbSNP and Humsavar for GUCY2D Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2534 -- 8,012,014(+) CTTAT(C/T)AACCA intron-variant
rs2816 -- 8,020,246(+) GTTCC(C/T)CGGGC utr-variant-3-prime
rs3813585 -- 8,015,172(+) CCTCC(C/T)GTCCC intron-variant
rs3829789 Benign 8,003,871(+) ATGCA(C/T)TCGGT reference, synonymous-codon
rs3891083 -- 8,014,077(+) TCCCA(A/G)ATGCT intron-variant

Relevant External Links for GUCY2D Gene

HapMap Linkage Disequilibrium report
GUCY2D
Human Gene Mutation Database (HGMD)
GUCY2D
Locus Specific Mutation Databases (LSDB)
GUCY2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GUCY2D Gene

Disorders for GUCY2D Gene

(2) OMIM Diseases for GUCY2D Gene (600179)

UniProtKB/Swiss-Prot

GUC2D_HUMAN
  • Leber congenital amaurosis 1 (LCA1) [MIM:204000]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:11035546, ECO:0000269 PubMed:12365911, ECO:0000269 PubMed:17724218, ECO:0000269 PubMed:21602930, ECO:0000269 PubMed:8944027}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy 6 (CORD6) [MIM:601777]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:12552567, ECO:0000269 PubMed:15111605, ECO:0000269 PubMed:18332321, ECO:0000269 PubMed:18487367, ECO:0000269 PubMed:20517349, ECO:0000269 PubMed:21552474, ECO:0000269 PubMed:22194653, ECO:0000269 PubMed:23734073, ECO:0000269 PubMed:24480840, ECO:0000269 PubMed:9618177, ECO:0000269 PubMed:9683616}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(10) Novoseek inferred disease relationships for GUCY2D Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 97.5 20
cord6 96.1 5
cone-rod dystrophy 95 29
retinitis pigmentosa 77.6 10
retinal degeneration 72.9 4

Relevant External Links for GUCY2D

GeneTests
GUCY2D
GeneReviews
GUCY2D
Genetic Association Database (GAD)
GUCY2D
Human Genome Epidemiology (HuGE) Navigator
GUCY2D
genes like me logo Genes that share disorders with GUCY2D: view

Publications for GUCY2D Gene

  1. Molecular cloning of a retina-specific membrane guanylyl cyclase. (PMID: 1356371) Shyjan A.W. … Lowe D.G. (Neuron 1992) 2 3 4 23
  2. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. (PMID: 12552567) Udar N. … Small K.W. (Hum. Mutat. 2003) 2 3 4 23
  3. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID: 17724218) Simonelli F. … Banfi S. (Invest. Ophthalmol. Vis. Sci. 2007) 3 4 23 48
  4. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P. … Stone E.M. (Mol. Vis. 2009) 3 23 48
  5. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. (PMID: 12365911) Koenekoop R.K. … Maumenee I. (Arch. Ophthalmol. 2002) 3 4 23

Products for GUCY2D Gene

Sources for GUCY2D Gene

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