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Aliases for GUCY2D Gene

Aliases for GUCY2D Gene

  • Guanylate Cyclase 2D, Retinal 2 3 4 5
  • Rod Outer Segment Membrane Guanylate Cyclase 2 3 4
  • Guanylate Cyclase 2D, Membrane (Retina-Specific) 2 3
  • Retinal Guanylate Cyclase 1 2 3
  • Cone Rod Dystrophy 6 2 3
  • EC 4 61
  • RETGC-1 3 4
  • GUC1A4 3 4
  • ROS-GC 3 4
  • RetGC 3 4
  • CORD6 3 4
  • GUC2D 3 4
  • Retinal Guanylyl Cyclase 1 3
  • EC 4.6.1 61
  • 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 Metabolism of fat-soluble vitamins and G-Beta Gamma Signaling. 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 GUCY2F.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F008055 1.3 Ensembl ENCODE 11.6 +54.1 54118 3.0 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 ZNF121 ZNF143 PAF1 ENSG00000263427 LOC107985075 NAA38 GUCY2D ALOX12B KCNAB3 CNTROB TRAPPC1 SCARNA21 CHD3
GH17F007931 1.2 ENCODE 11.4 -70.1 -70102 2.8 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 PFAS DVL2 CTC1 CNTROB LOC105371523 SNORD10 SNORA48 CYB5D1 NLGN2 SCARNA21
GH17F007914 1.1 ENCODE 11.3 -86.7 -86654 2.9 ATF1 PKNOX1 CREB3L1 SIN3A DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 ZNF143 KCNAB3 NAA38 CYB5D1 TMEM88 GUCY2D ALOX15B LOC284023 PIR53872
GH17F008062 1.1 Ensembl ENCODE 11.1 +60.3 60307 1.0 HDAC1 PKNOX1 ZNF133 INSM2 KLF17 FEZF1 ZNF2 ZEB1 GLIS2 GATA2 ALOX12B ALOX15B GUCY2D SNORD118 TMEM107 HES7 VAMP2 ALOXE3P1 ENSG00000263427
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GUCY2D on UCSC Golden Path with GeneCards custom track

Genomic Location for GUCY2D Gene

8,002,594 bp from pter
8,020,340 bp from pter
17,747 bases
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:
    Recommended name:
    Retinal guanylyl cyclase 1
    Protein Accession:
    Secondary Accessions:
    • Q6LEA7

    Protein attributes for GUCY2D Gene

    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

Selected DME Specific Peptides for GUCY2D Gene


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



  • Contains 1 guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
  • Contains 1 guanylate cyclase domain.
  • Contains 1 protein kinase domain.
  • 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:0004383 guanylate cyclase activity TAS --
GO:0004672 protein kinase activity IEA --
GO:0004872 receptor activity TAS 1356371
GO:0005515 protein binding IPI 21124868
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUCY2D gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 3
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:0008074 guanylate cyclase complex, soluble IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GUCY2D: view

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:0006468 protein phosphorylation IEA --
GO:0007168 receptor guanylyl cyclase signaling pathway TAS 1356371
GO:0007601 visual perception IEA,TAS --
GO:0009190 cyclic nucleotide biosynthetic process 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
Phosphoric acid Approved Pharma 0
Cyclic GMP 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
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for

Expression for GUCY2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Protein tissue co-expression partners for GUCY2D Gene

NURSA nuclear receptor signaling pathways regulating expression of GUCY2D Gene:


SOURCE GeneReport for Unigene cluster for GUCY2D Gene:


mRNA Expression by UniProt/SwissProt for GUCY2D Gene:

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

Primer 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
(Pan troglodytes)
Mammalia GUCY2D 34 35
  • 99.58 (n)
(Canis familiaris)
Mammalia GUCY2D 34 35
  • 86.97 (n)
(Bos Taurus)
Mammalia GUCY2D 34 35
  • 86.04 (n)
(Mus musculus)
Mammalia Gucy2e 34 16 35
  • 82.2 (n)
(Rattus norvegicus)
Mammalia Gucy2e 34
  • 82.17 (n)
(Ornithorhynchus anatinus)
Mammalia GUCY2D 35
  • 82 (a)
(Monodelphis domestica)
Mammalia GUCY2D 35
  • 78 (a)
(Anolis carolinensis)
Reptilia GUCY2D 35
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy2d 34
  • 60.78 (n)
(Danio rerio)
Actinopterygii gc3 34 35
  • 58.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9783 36
  • 53 (a)
CG5719 36
  • 50 (a)
CG34357 35
  • 22 (a)
(Caenorhabditis elegans)
Secernentea gcy-22 36 35
  • 44 (a)
gcy-21 36
  • 43 (a)
gcy-13 36 35
  • 42 (a)
gcy-15 36
  • 42 (a)
gcy-19 36 35
  • 42 (a)
gcy-31 36
  • 41 (a)
gcy-4 36 35
  • 40 (a)
gcy-2 36 35
  • 39 (a)
gcy-20 36 35
  • 38 (a)
gcy-14 36 35
  • 37 (a)
gcy-3 36 35
  • 37 (a)
gcy-8 36 35
  • 36 (a)
gcy-23 36 35
  • 35 (a)
gcy-11 36 35
  • 33 (a)
gcy-27 36 35
  • 33 (a)
odr-1 36 35
  • 33 (a)
daf-11 36 35
  • 30 (a)
gcy-7 35
  • 27 (a)
gcy-1 35
  • 26 (a)
gcy-6 35
  • 26 (a)
gcy-9 35
  • 24 (a)
gcy-17 35
  • 23 (a)
gcy-18 35
  • 23 (a)
gcy-25 35
  • 23 (a)
Species where no ortholog for GUCY2D was found in the sources mined by GeneCards:
  • 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

Gene Tree for GUCY2D (if available)
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 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
rs201414567 Leber congenital amaurosis 1 (LCA1) [MIM:204000], other 8,003,211(+) GTTCA(C/T)GGTGG reference, missense
rs267606857 Cone-rod dystrophy 6 (CORD6) [MIM:601777], Pathogenic 8,015,404(+) AGAGA(C/T)CGCCA reference, missense
rs28933695 Cone-rod dystrophy 6 (CORD6) [MIM:601777], Pathogenic 8,014,699(+) CGGGA(C/G)CGCAC reference, missense
rs565948960 Leber congenital amaurosis 1 (LCA1) [MIM:204000] 8,006,648(+) TCCCG(C/T)GTGGG reference, missense
rs61749669 Leber congenital amaurosis 1 (LCA1) [MIM:204000], untested 8,003,361(+) GCCTT(A/G)CCGGA reference, missense

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

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

Disorder Aliases PubMed IDs
cone-rod dystrophy 6
  • retinal cone dystrophy 2
leber congenital amaurosis 1
  • amaurosis congenita of leber i
partial central choroid dystrophy
  • choroidal dystrophy, central areolar
leber congenital amaurosis
  • lca
gucy2d-related leber congenital amaurosis
- elite association - COSMIC cancer census association via MalaCards


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

No data available for Genatlas for GUCY2D Gene

Publications for GUCY2D Gene

  1. 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 22 46 64
  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 22 64
  3. Molecular cloning of a retina-specific membrane guanylyl cyclase. (PMID: 1356371) Shyjan A.W. … Lowe D.G. (Neuron 1992) 2 3 4 22 64
  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 22 46 64
  5. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. (PMID: 18487367) Kitiratschky V.B. … Kohl S. (Invest. Ophthalmol. Vis. Sci. 2008) 3 4 22 64

Products for GUCY2D Gene

Sources for GUCY2D Gene

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