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Aliases for GUCY2D Gene

Aliases for GUCY2D Gene

  • Guanylate Cyclase 2D, Retinal 2 3 4
  • Guanylate Cyclase 2D, Membrane (Retina-Specific) 2 3 5
  • Rod Outer Segment Membrane Guanylate Cyclase 2 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
  • CORD6 3 4
  • GUC2D 3 4
  • EC 4.6.1 63
  • ROS-GC1 3
  • RETGC1 4
  • CORD5 3
  • ROSGC 3
  • CYGD 3
  • LCA1 3
  • RCD2 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, Retinal) is a Protein Coding gene. Diseases associated with GUCY2D include cone-rod dystrophy 6 and leber congenital amaurosis 1. Among its related pathways are Olfactory Signaling Pathway and Phototransduction. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is GUCY1A3.

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

Enhancers for GUCY2D Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GUCY2D on UCSC Golden Path with GeneCards custom track

Promoters for GUCY2D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GUCY2D on UCSC Golden Path with GeneCards custom track

Genomic Location for GUCY2D Gene

Chromosome:
17
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

Genes around GUCY2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCY2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 297
  • Modification sites at PhosphoSitePlus

Other Protein References for GUCY2D Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families 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 :
  • Contains 1 guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
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:0004016 NOT adenylate cyclase activity IBA --
GO:0004872 receptor activity TAS 1356371
GO:0016849 phosphorus-oxygen lyase activity IEA --
genes like me logo Genes that share ontologies with GUCY2D: view
genes like me logo Genes that share phenotypes with GUCY2D: view

Human Phenotype Ontology for GUCY2D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GUCY2D Gene

MGI Knock Outs for GUCY2D:

Animal Model Products

No data available for miRNA , Transcription Factor Targets 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 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for GUCY2D Gene

Pathways & Interactions 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:0007603 phototransduction, visible light TAS --
GO:0009190 cyclic nucleotide biosynthetic process IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with GUCY2D: view

No data available for SIGNOR curated interactions for GUCY2D Gene

Drugs & Compounds for GUCY2D Gene

(10) Drugs for GUCY2D Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclic GMP Experimental Pharma 0
Diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
calcium Nutra 0

(3) Additional Compounds for GUCY2D Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with GUCY2D: view

Transcripts for GUCY2D Gene

mRNA/cDNA for GUCY2D Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA 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:

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 (x15.5).

Protein differential expression in normal tissues from HIPED for GUCY2D Gene

This gene is overexpressed in Retina (39.6) and Bone (29.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GUCY2D: view

Protein tissue co-expression partners for GUCY2D Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GUCY2D 35
  • 99.58 (n)
  • 99.46 (a)
GUCY2D 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gucy2e 35
  • 82.17 (n)
  • 84.77 (a)
oppossum
(Monodelphis domestica)
Mammalia GUCY2D 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2D 36
  • 82 (a)
OneToOne
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 CG5719 37
  • 50 (a)
CG9783 37
  • 53 (a)
CG34357 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-11 37
  • 30 (a)
gcy-11 37
  • 33 (a)
gcy-13 37
  • 42 (a)
gcy-14 37
  • 37 (a)
gcy-15 37
  • 42 (a)
gcy-19 37
  • 42 (a)
gcy-2 37
  • 39 (a)
gcy-20 37
  • 38 (a)
gcy-21 37
  • 43 (a)
gcy-22 37
  • 44 (a)
gcy-23 37
  • 35 (a)
gcy-27 37
  • 33 (a)
gcy-3 37
  • 37 (a)
gcy-31 37
  • 41 (a)
gcy-4 37
  • 40 (a)
gcy-8 37
  • 36 (a)
odr-1 37
  • 33 (a)
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
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

Paralogs for GUCY2D Gene

(3) 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
rs61749665 - 8,003,201(+) TCTCC(G/T)CCGTG reference, missense
rs28933695 Cone-rod dystrophy 6 (CORD6) 8,014,699(+) CGGGA(C/G)CGCAC reference, missense
VAR_003437 Cone-rod dystrophy 6 (CORD6)
VAR_009129 Leber congenital amaurosis 1 (LCA1)
VAR_009130 Leber congenital amaurosis 1 (LCA1)

Variation tolerance for GUCY2D Gene

Residual Variation Intolerance Score: 5.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.06; 93.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GUCY2D Gene

HapMap Linkage Disequilibrium report
GUCY2D
Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

(20) MalaCards diseases for GUCY2D Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 6
  • cone dystrophy
leber congenital amaurosis 1
  • amaurosis congenita of leber, type 1
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive
  • severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type
partial central choroid dystrophy
  • choroidal dystrophy, central areolar
hepatitis c virus
  • hepatitic c virus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GUC2D_HUMAN
  • 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.
  • 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.

Relevant External Links for GUCY2D

Genetic Association Database (GAD)
GUCY2D
Human Genome Epidemiology (HuGE) Navigator
GUCY2D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUCY2D
genes like me logo Genes that share disorders with GUCY2D: view

No data available for Genatlas for GUCY2D Gene

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 67
  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 23
  3. Rod outer segment membrane guanylate cyclase type 1 (ROS-GC1) calcium-modulated transduction system in the sperm. (PMID: 19111294) Jankowska A. … Warchol J.B. (Fertil. Steril. 2010) 3 23
  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
  5. New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. (PMID: 18332321) Small K.W. … Heckenlively J.R. (Arch. Ophthalmol. 2008) 3 23

Products for GUCY2D Gene

Sources for GUCY2D Gene

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