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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 4.6.1.2 4 58
  • 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 58
  • 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 Nanog in Mammalian ESC Pluripotency 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 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.

Additional gene information for GUCY2D Gene

No data available for CIViC summary , 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
GH17H007882 1.7 FANTOM5 ENCODE dbSUPER 10.8 -116.0 -115983 7 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 KDM6B WRAP53 CYB5D1 TMEM88 GPS2 PER1 KCNAB3 TRAPPC1 CNTROB GUCY2D
GH17H008055 1.3 Ensembl ENCODE 11.6 +54.3 54318 2 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ATF7 LOC107985075 NAA38 GUCY2D ALOX12B KCNAB3 CNTROB TRAPPC1 SCARNA21 CHD3 CYB5D1
GH17H007880 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -121.1 -121077 1 HDGF NFIC ZNF366 ZNF701 MNT PRDM1 CNTROB SCARNA21 CYB5D1 SNORD10 SNORA48 DVL2 EIF4A1 CTC1 ENSG00000262089 TMEM88
GH17H007931 1.1 ENCODE 11.4 -70.1 -70102 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF302 ZNF143 DVL2 PFAS CYB5D1 CNTROB SCARNA21 CHD3 SENP3 CTC1 NEURL4 WRAP53
GH17H007914 1.1 ENCODE 11.3 -86.7 -86654 2 PKNOX1 ARNT SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 ZNF143 ZNF207 SP3 CNTROB POLR2A WRAP53 DVL2 ENSG00000265749 CTC1 PFAS KCNAB3 NAA38 CYB5D1
- 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

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

Selected DME Specific Peptides for GUCY2D Gene

Q02846:
  • ELRHENVALYLGLFLA
  • TDHGHGRLLEAQ
  • LDILSAVG
  • DSMLRMLE
  • SPPPLCRP
  • LLTQMLP
  • RGRTELKGKG
  • RVSGLVGPVNPA
  • MESTGLPYRIHV
  • TAPQDLWVEAG
  • ERTEELE
  • YKVETIGDAY
  • LMKQCWAE
  • LAVVSEHC
  • AIRPATK
  • RIGLHSG
  • TPGSLGAVSSAL
  • MRHMPEVPVRIRIGLH
  • SEPIEVV
  • KLDWMFKSSLLLDLIKG
  • IIMQEVVCRS
  • LLNDLYT
  • RYLHHRGVAHGRLKSRNC
  • FSDIVGFT
  • ASRMEST
  • PRYCLFGDTVNTASRMES
  • RHAAEIANM
  • QVSPLFGTIY
  • MPRYCLFG
  • PYAMLELTPEEV

Post-translational modifications for GUCY2D Gene

  • Glycosylation at isoforms=297
  • Modification sites at PhosphoSitePlus

Other Protein References for GUCY2D Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GUCY2D Gene

Gene Families for GUCY2D Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

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 :
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
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

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GUCY2D
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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 IBA --
GO:0006468 protein phosphorylation IEA --
GO:0007168 receptor guanylyl cyclase signaling pathway TAS 1356371
GO:0007601 visual perception TAS,IEA --
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
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GUCY2D
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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:

GUCY2D

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.

Evidence on tissue expression from TISSUES for GUCY2D Gene

  • Eye(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUCY2D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • olfactory bulb
  • pituitary gland
  • skull
Thorax:
  • breast
Abdomen:
  • liver
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
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
chimpanzee
(Pan troglodytes)
Mammalia GUCY2D 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia GUCY2D 33 34
  • 86.97 (n)
cow
(Bos Taurus)
Mammalia GUCY2D 33 34
  • 86.04 (n)
mouse
(Mus musculus)
Mammalia Gucy2e 33 16 34
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Gucy2e 33
  • 82.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2D 34
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GUCY2D 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCY2D 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy2d 33
  • 60.78 (n)
zebrafish
(Danio rerio)
Actinopterygii gc3 33 34
  • 58.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9783 35
  • 53 (a)
CG5719 35
  • 50 (a)
CG34357 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gcy-22 35 34
  • 44 (a)
gcy-21 35
  • 43 (a)
gcy-13 35 34
  • 42 (a)
gcy-15 35
  • 42 (a)
gcy-19 35 34
  • 42 (a)
gcy-31 35
  • 41 (a)
gcy-4 35 34
  • 40 (a)
gcy-2 35 34
  • 39 (a)
gcy-20 35 34
  • 38 (a)
gcy-14 35 34
  • 37 (a)
gcy-3 35 34
  • 37 (a)
gcy-8 35 34
  • 36 (a)
gcy-23 35 34
  • 35 (a)
gcy-11 35 34
  • 33 (a)
gcy-27 35 34
  • 33 (a)
odr-1 35 34
  • 33 (a)
daf-11 35 34
  • 30 (a)
gcy-7 34
  • 27 (a)
ManyToMany
gcy-1 34
  • 26 (a)
ManyToMany
gcy-6 34
  • 26 (a)
ManyToMany
gcy-9 34
  • 24 (a)
ManyToMany
gcy-17 34
  • 23 (a)
ManyToMany
gcy-18 34
  • 23 (a)
ManyToMany
gcy-25 34
  • 23 (a)
ManyToMany
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

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
rs201414567 Uncertain significance, Leber congenital amaurosis 1 (LCA1) [MIM:204000] 8,003,211(+) GTTCA(C/T)GGTGG reference, missense
rs267606857 Pathogenic, Cone-rod dystrophy 6 (CORD6) [MIM:601777] 8,015,404(+) AGAGA(C/T)CGCCA reference, missense
rs28933695 Pathogenic, Cone-rod dystrophy 6 (CORD6) [MIM:601777] 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
rs61749665 Uncertain significance, Leber congenital amaurosis 1 (LCA1) [MIM:204000] 8,003,201(+) TCTCC(G/T)CCGTG 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)
GUCY2D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(24) MalaCards diseases for GUCY2D Gene - From: HGMD, 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 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

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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {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:15123990, ECO:0000269 PubMed:17724218, ECO:0000269 PubMed:21602930, ECO:0000269 PubMed:8944027, ECO:0000269 PubMed:9888789}. 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. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID: 17724218) Simonelli F … Banfi S (Investigative ophthalmology & visual science 2007) 3 4 22 45 60
  2. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. (PMID: 12552567) Udar N … Small KW (Human mutation 2003) 2 3 4 22 60
  3. Molecular cloning of a retina-specific membrane guanylyl cyclase. (PMID: 1356371) Shyjan AW … Lowe DG (Neuron 1992) 2 3 4 22 60
  4. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P … Stone EM (Molecular vision 2009) 3 22 45 60
  5. New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. (PMID: 18332321) Small KW … Heckenlively JR (Archives of ophthalmology (Chicago, Ill. : 1960) 2008) 3 4 22 60

Products for GUCY2D Gene

Sources for GUCY2D Gene

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