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 m... See more...

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
  • RETGC-1 2 3 4
  • Guanylate Cyclase 2D, Membrane (Retina-Specific) 2 3
  • Retinal Guanylate Cyclase 1 2 3
  • Retinal Guanylyl Cyclase 1 3 4
  • Cone Rod Dystrophy 6 2 3
  • EC 4.6.1.2 4 51
  • ROS-GC1 2 3
  • GUC1A4 3 4
  • ROS-GC 3 4
  • CORD6 3 4
  • GUC2D 3 4
  • RetGC 2 3
  • CG-E 3 4
  • CYGD 2 3
  • LCA1 2 3
  • EC 4.6.1 51
  • CSNB1I 3
  • GUCY2D 5
  • RETGC1 4
  • CACD1 3
  • CORD5 3
  • ROSGC 3
  • RETGC 4
  • 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 Choroidal Dystrophy, Central Areolar, 1 and Cone-Rod Dystrophy 6. Among its related pathways are Sweet Taste Signaling and Signaling by GPCR. Gene Ontology (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 Summary for GUCY2D Gene

  • Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:21928830, PubMed:30319355, PubMed:26100624, PubMed:9600905, PubMed:15123990). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GUCY2D Gene

Genomics for GUCY2D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GUCY2D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUCY2D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GUCY2D

Top Transcription factor binding sites by QIAGEN in the GUCY2D gene promoter:
  • AML1a
  • Lmo2
  • Olf-1
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)
  • STAT3

Genomic Locations for GUCY2D Gene

Genomic Locations for GUCY2D Gene
chr17:8,002,615-8,020,342
(GRCh38/hg38)
Size:
17,728 bases
Orientation:
Plus strand
chr17:7,905,912-7,923,658
(GRCh37/hg19)
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:
    • Homodimer; requires homodimerization for guanylyl cyclase activity (By similarity). Interacts with RD3; promotes the exit of GUCY2D from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (PubMed:21928830, PubMed:21078983). Interaction with RD3 negatively regulates guanylate cyclase activity (PubMed:21928830).
    Miscellaneous:
    • The gene names for receptor guanylyl cyclases are inconsistent between mouse and human. The ortholog of the mouse Gucy2d gene is a pseudogene in humans.

    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 Asn297
  • 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
  • Transporters

Protein Domains for GUCY2D Gene

Suggested Antigen Peptide Sequences for GUCY2D Gene

GenScript: Design optimal peptide antigens:
  • Rod outer segment membrane guanylate cyclase (GUC2D_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:21928830, PubMed:30319355, PubMed:26100624, PubMed:9600905, PubMed:15123990). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP = 3',5'-cyclic GMP + diphosphate; Xref=Rhea:RHEA:13665, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:57746; EC=4.6.1.2; Evidence={ECO:0000269|PubMed:15123990, ECO:0000269|PubMed:21928830, ECO:0000269|PubMed:26100624, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:7912093, ECO:0000269|PubMed:9600905};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.31 mM for GTP (in absence of RD3) {ECO:0000269|PubMed:21928830}; KM=1.57 mM for GTP (in presence of 30 nM of RD3) {ECO:0000269|PubMed:21928830}; KM=0.94 mM for GTP (in presence of 60 nM of RD3) {ECO:0000269|PubMed:21928830}; Vmax=3.5 nmol/min/mg enzyme (in absence of RD3) {ECO:0000269|PubMed:21928830}; Vmax=1.4 nmol/min/mg enzyme (in presence of 30 nM of RD3) {ECO:0000269|PubMed:21928830}; Vmax=0.7 nmol/min/mg enzyme (in presence of 60 nM of RD3) {ECO:0000269|PubMed:21928830};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by GUCA1A when free calcium ions concentration is low, and inhibited by GUCA1A when free calcium ions concentration is high (By similarity). Negatively regulated by RD3; inhibits the basal and GUCA1A-stimulated guanylate cyclase activity (PubMed:21928830).
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

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:0000166 nucleotide binding IEA --
GO:0001653 peptide receptor activity IBA 21873635
GO:0004383 guanylate cyclase activity TAS,IDA 21928830
GO:0004672 protein kinase activity IEA --
GO:0005515 protein binding IPI 21078983
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCY2D

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

Photoreceptor outer segment membrane. Single-pass type I membrane protein. Endoplasmic reticulum 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
endoplasmic reticulum 5
nucleus 4
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GUCY2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IDA 7912093
GO:0005640 nuclear outer membrane TAS 7777544
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 30319355
GO:0005886 plasma membrane IBA,ISS --
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

PathCards logo

SuperPathways for GUCY2D Gene

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

Pathways by source for GUCY2D Gene

9 Qiagen pathways for GUCY2D Gene
  • Cellular Effects of Sildenafil
  • CRHR Pathway
  • eNOS Signaling
  • Intracellular Calcium Signaling
  • Relaxin Pathway

Gene Ontology (GO) - Biological Process for GUCY2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006182 cGMP biosynthetic process IBA 21873635
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IBA 21873635
GO:0007168 receptor guanylyl cyclase signaling pathway TAS,IBA 21873635
GO:0007601 visual perception TAS,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 6556

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with GUCY2D: view

Transcripts for GUCY2D Gene

mRNA/cDNA for GUCY2D Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCY2D

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

No ASD Table

Relevant External Links for GUCY2D Gene

GeneLoc Exon Structure for
GUCY2D

Expression for GUCY2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GUCY2D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for GUCY2D Gene



Protein tissue co-expression partners for GUCY2D Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for GUCY2D Gene

  • Eye(4.6)
  • Nervous system(2.3)

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
Regions:
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

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 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GUCY2D 30 31
  • 86.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GUCY2D 30 31
  • 86.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gucy2e 30 17 31
  • 82.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gucy2e 30
  • 82.17 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2D 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GUCY2D 31
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GUCY2D 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gucy2d 30
  • 60.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii gc3 30 31
  • 58.3 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9783 32
  • 53 (a)
CG5719 32
  • 50 (a)
CG34357 31
  • 22 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gcy-21 32
  • 43 (a)
gcy-15 32
  • 42 (a)
gcy-31 32
  • 41 (a)
gcy-22 31 32
  • 30 (a)
ManyToMany
gcy-13 31 32
  • 29 (a)
ManyToMany
gcy-7 31
  • 27 (a)
ManyToMany
gcy-6 31
  • 26 (a)
ManyToMany
gcy-1 31
  • 26 (a)
ManyToMany
gcy-27 31 32
  • 25 (a)
ManyToMany
gcy-23 31 32
  • 25 (a)
ManyToMany
gcy-20 31 32
  • 25 (a)
ManyToMany
gcy-3 31 32
  • 25 (a)
ManyToMany
gcy-2 31 32
  • 25 (a)
ManyToMany
gcy-19 31 32
  • 24 (a)
ManyToMany
gcy-9 31
  • 24 (a)
ManyToMany
gcy-4 31 32
  • 24 (a)
ManyToMany
gcy-14 31 32
  • 24 (a)
ManyToMany
gcy-25 31
  • 23 (a)
ManyToMany
gcy-8 31 32
  • 23 (a)
ManyToMany
gcy-11 31 32
  • 23 (a)
ManyToMany
gcy-17 31
  • 23 (a)
ManyToMany
gcy-18 31
  • 23 (a)
ManyToMany
odr-1 31 32
  • 21 (a)
ManyToMany
daf-11 31 32
  • 19 (a)
ManyToMany
Species where no ortholog for GUCY2D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GUCY2D: view image

Paralogs for GUCY2D Gene

(3) SIMAP similar genes for GUCY2D Gene using alignment to 1 proteins:

  • GUC2D_HUMAN

Pseudogenes.org Pseudogenes for GUCY2D Gene

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

Variants for GUCY2D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GUCY2D Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
635421 Likely Pathogenic: Cone-rod dystrophy 6 8,014,704(+) C/G MISSENSE_VARIANT
636034 Likely Pathogenic: Leber congenital amaurosis 8,007,107(+) A/ATGGGGCTGGC FRAMESHIFT_VARIANT
636035 Likely Pathogenic: Leber congenital amaurosis 8,013,219(+) GC/G FRAMESHIFT_VARIANT
638494 Pathogenic: Leber congenital amaurosis 1; Cone-rod dystrophy 6; Choroidal dystrophy, central areolar 1 8,007,523(+) C/T NONSENSE
642720 Pathogenic: Leber congenital amaurosis 1; Cone-rod dystrophy 6 8,004,043(+) CA/C FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for GUCY2D Gene

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)

Additional Variant Information 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

(58) MalaCards diseases for GUCY2D Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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:15123990, ECO:0000269 PubMed:17724218, ECO:0000269 PubMed:21602930, ECO:0000269 PubMed:27475985, ECO:0000269 PubMed:30319355, ECO:0000269 PubMed:8944027, ECO:0000269 PubMed:9888789}. 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, 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:25515582, ECO:0000269 PubMed:27475985, ECO:0000269 PubMed:30319355, ECO:0000269 PubMed:9618177, ECO:0000269 PubMed:9683616}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Choroidal dystrophy, central areolar, 1 (CACD1) [MIM:215500]: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. {ECO:0000269 PubMed:22695961}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Night blindness, congenital stationary, 1I (CSNB1I) [MIM:618555]: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive. {ECO:0000269 PubMed:29559409}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GUCY2D

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  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 23
  3. Molecular cloning of a retina-specific membrane guanylyl cyclase. (PMID: 1356371) Shyjan AW … Lowe DG (Neuron 1992) 2 3 4 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 EM (Molecular vision 2009) 3 23 41
  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 23

Products for GUCY2D Gene

Sources for GUCY2D Gene