GUCY2D Gene
protein-coding GIFtS: 62
GCID: GC17P007905
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guanylate cyclase 2D, membrane (retina-specific)(Previous name: cone rod dystrophy 5/6 )
(Previous symbols: CORD6, LCA, GUC2D, GUC1A4, CORD5)
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Aliases
for GUCY2D gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Guanylate Cyclase 2D, Membrane (Retina-Specific)1 2 | | Guanylate Cyclase 2D, Retinal2 3 | | CORD61 2 3 5 | | Rod Outer Segment Membrane Guanylate Cyclase2 3 | | GUC2D1 2 3 5 | | ROS-GC2 3 | | GUC1A41 2 3 | | EC 4.6.1.23 8 | | RETGC-11 2 3 | | RCD22 5 | | LCA11 2 5 | | Cone Rod Dystrophy 5/61 | | CORD51 2 | | ROSGC2 | | CYGD1 2 | | Retinal Guanylyl Cyclase 12 | | LCA1 2 | | RETGC3 | | ROS-GC11 2 | | RETGC13 | | RetGC1 | | EC 4.6.18 |
Export aliases for GUCY2D gene to outside databasesPrevious GC identifers: GC17P008372 GC17P008777 GC17P007848 GC17P008106 GC17P007846 |
Summaries
for GUCY2D gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GUCY2D:
This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Likeother membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a largeextracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalyticdomain. 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)
UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846Function: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzymeinvolved in the resynthesis of cGMP required for recovery of the dark state after phototransduction
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Genomic Views
for GUCY2D gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GUCY2D gene promoter:
SRF AML1a SRF (504 AA) Lmo2 Pax-2 Olf-1 Pax-2a PPAR-gamma1 STAT3 PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for GUCY2D
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GUCY2D |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p13.1 Ensembl cytogenetic band: 17p13.1 HGNC cytogenetic band: 17p13.1GUCY2D Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P007905: view genomic region
(about GC identifiers)
Start:
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7,905,912 bp from pter |
End:
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7,923,658 bp from pter |
Size:
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17,747 bases |
Orientation:
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plus strand |
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Proteins
for GUCY2D gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846 (See
protein sequence)Recommended Name: Retinal guanylyl cyclase 1 precursor Size: 1103 amino acids; 120059 Da
Subcellular location: Membrane; Single-pass type I membrane protein
1 PDB 3D structure from  and Proteopedia  for GUCY2D:1AWL (3D)
Secondary accessions: Q6LEA7Explore the universe of human proteins at neXtProt for GUCY2D: NX_Q02846
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q02846
4/30 DME Specific Peptides for GUCY2D (Q02846) (see all 30)
GUCY2D Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000171.1
ENSEMBL proteins: ENSP00000254854
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
GUCY2D for ontologies About GeneDecksing
GUCY2D Antibody Products:
Assay Products for GUCY2D: |
Protein
Domains /
Families
for GUCY2D gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GUCY2D for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q02846ProtoNet protein and cluster: Q02846 1 Blocks protein family: IPB001828 Extracellular ligand-binding receptor
UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase familySimilarity: Contains 1 guanylate cyclase domainSimilarity: Contains 1 protein kinase domain |
Function
for GUCY2D gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846Function: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzymeinvolved in the resynthesis of cGMP required for recovery of the dark state after phototransductionCatalytic activity: GTP = 3',5'-cyclic GMP + diphosphateEnzyme regulation: Activated by GCAP-1; inhibited by calcium Genatlas biochemistry entry for GUCY2D:guanylate cyclase 2D,photoreceptor specific,likely homologous to murine Gucy2d,expressed in the retina,in the rod outersegment,activated at nanomolar concentrations of Ca2 by Ca2+ binding proteins and involved inphosphotransduction,stimulated at micromolar concentrations of Ca2+ by S100 beta and involved in retinal synapticactivity
Enzyme Numbers (IUBMB): EC 4.6.1.21 2 EC 4.6.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2D (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2D
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: GUCY2D (NM_000180) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GUCY2D | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GUCY2D |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUCY2D |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
GUCY2D for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for GUCY2D:
Animal Models:
Mouse knock-out Gucy2etm1Gar for GUCY2D
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Gucy2e):
GUCY2D for phenotypes About GeneDecksing
|
Pathways & Interactions
for GUCY2D gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Visual signal transduction- Rods | | | 2 | G-Beta Gamma Signaling | | | 3 | Sweet Taste Signaling | | | 4 | Visual Cycle in Retinal Rods | | | 5 | Signaling in Gap Junctions | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GUCY2D (see all 9)
2  BioSystems Pathways for GUCY2D
3 
Kegg Pathways (Kegg details for GUCY2D):
GUCY2D for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GUCY2D
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/83 Interacting proteins for GUCY2D (Q028461, 2, 3 ENSP000002548544) via UniProtKB, MINT, STRING, and/or I2D (see all 83)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
GUCY2D for ontologies About GeneDecksing
|
Drugs & Compounds
for GUCY2D gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
GUCY2D for compounds About GeneDecksing
 Browse Tocris compounds for GUCY2D
5 HMDB Compounds for GUCY2D About this table
9 Novoseek chemical compound relationships for GUCY2D gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| guanylate |
87 |
81 |
8672403 (2), 19915996 (2), 10504230 (2), 19111294 (2) (see all 53) |
| cgmp |
75.6 |
28 |
17699662 (3), 12799385 (2), 1356371 (2), 12390029 (1) (see all 15) |
| amp-pnp |
47.8 |
5 |
12799385 (3), 16460036 (1) |
| calcium |
47.6 |
92 |
10196158 (7), 9651312 (4), 7912093 (4), 8662612 (3) (see all 30) |
| gtp |
19.9 |
2 |
11136713 (1) |
| vitamin a |
19.3 |
3 |
18632300 (1), 19753312 (1), 12015276 (1) |
| atp |
17.6 |
15 |
16259948 (3), 8662612 (2), 16460036 (2), 8870679 (2) (see all 6) |
| magnesium |
0 |
2 |
16793776 (2) |
| serine |
0 |
1 |
18161624 (1) |
Search CenterWatch for drugs/clinical trials and news about GUCY2D / GUC2D
|
Transcripts
for GUCY2D gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GUCY2D gene: NM_000180.3 Unigene Cluster for GUCY2D: Guanylate cyclase 2D, membrane (retina-specific) Hs.592109 [show with all ESTs]Unigene Representative Sequence: NM_0001802 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000254854(uc002gjt.2) ENST00000574510
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2D (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2D
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GUCY2D (NM_000180) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GUCY2D | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GUCY2D |
Additional cDNA sequence: AK125534.1 DQ426876.1 M92432.1 4 DOTS entries: DT.97832107 DT.101961149 DT.99950562 DT.91638961 7 AceView cDNA sequences: CK301185 M92432 NM_000180 BQ188824 BM688787 BM931704 BQ639990
GeneLoc Exon Structure
|
Expression
for GUCY2D gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GUCY2D expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTCTTCAA
About this image
See GUCY2D Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GUCY2D
SOURCE GeneReport for Unigene cluster: Hs.592109
UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846Tissue specificity: Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptorcells
SABiosciences Custom PCR Arrays for GUCY2D
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GUCY2D
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GUCY2D | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GUCY2D | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GUCY2D | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUCY2D |
Orthologs
for GUCY2D gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for GUCY2D gene from 4/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
GUCY2D6 |
-- |
61(a) |
1 ↔ 1 |
GL343400.1(897825-937908) |
zebrafish
(Danio rerio) |
Actinopterygii |
gc31 |
guanylyl cyclase 3 |
58.12(n)
54.43(a) |
|
140426 NM_131866.1 NP_571941.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG97833 |
receptor guanylate cyclase |
53(a)
(best of 2) |
|
82C1 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
gcy-223 |
Natriuretic peptides receptors, guanylate
cyclase |
44(a)
(best of 17) |
|
V(20812562-20817185) -- |
ENSEMBL Gene Tree for GUCY2D (if available)
TreeFam Gene Tree for GUCY2D (if available) |
Paralogs
for GUCY2D gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GUCY2D gene
- ADCY52 ADCY22 GUCY2C2 NPR12 GUCY2F2 ADCY82 GUCY1A22 ADCY72
- ADCY92 GUCY1B32 ADCY62 ADCY12 GUCY1A32 ADCY42 NPR22 ADCY32
3 SIMAP similar genes for GUCY2D using alignment to 1 protein entry: GUC2D_HUMAN:GUCY2F NPR1 NPR2
GUCY2D for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for GUCY2D
PGOHUM00000257844
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Genomic Variants
for GUCY2D gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GUCY2D (7905912 - 7923658 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GUCY2D: --
Human Gene Mutation Database (HGMD): GUCY2D
Locus Specific Mutation Databases (LSDB): GUCY2D
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GUCY2D |
|
Disorders
/ Diseases
for GUCY2D gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GUCY2D for disorders About GeneDecksing
OMIM gene information: 600179
OMIM disorders: 204000 601777
UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846
Defects in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1) [MIM:204000]. LCA designates aclinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomalrecessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography.LCA represents the most common genetic cause of congenital visual impairment in infants and children Defects in GUCY2D are the cause of cone-rod dystrophy type 6 (CORD6) [MIM:601777]. CORDs are inherited retinaldystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment depositsvisible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followedby rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed byloss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa
20/28  diseases for GUCY2D (see all 28): About MalaCardscone-rod dystrophy cone-rod dystrophy 6 leber congenital amaurosis cone-rod dystrophy 5
retinitis leber congenital amaurosis 1 partial central choroid dystrophy dengue hemorrhagic fever
hemorrhagic fever pigmentary retinopathy hyperopia retinitis pigmentosa
fundus dystrophy cone dystrophy retinal degeneration scotoma
keratoconus choroidal dystrophy coloboma blindness
5 diseases from the University of Copenhagen DISEASES database for GUCY2D:Leber congenital amaurosis Retinal degeneration Fundus dystrophy Blindness
Partial central choroid dystrophy 10 Novoseek disease relationships for GUCY2D gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lebers congenital amaurosis |
97.5 |
23 |
12623820 (2), 15123990 (2), 9888789 (2), 8641699 (1) (see all 17) |
| cord6 |
96.1 |
5 |
10647719 (2), 11115851 (1), 11952088 (1), 10529237 (1) |
| cone-rod dystrophy |
95 |
34 |
10647719 (2), 11709018 (2), 12596936 (2), 17041576 (2) (see all 22) |
| retinitis pigmentosa |
77.6 |
11 |
16272259 (4), 10527670 (1), 15370538 (1), 18055816 (1) (see all 7) |
| retinal degeneration |
72.9 |
4 |
12623820 (1), 12187427 (1), 20012162 (1), 17699662 (1) |
| blindness |
58.3 |
2 |
16700630 (2) |
| retinopathy |
58 |
3 |
7806240 (1), 11952089 (1) |
| keratoconus |
38.9 |
1 |
19407021 (1) |
| hyperopia |
29.3 |
1 |
15643614 (1) |
| vision low |
26 |
1 |
17525851 (1) |
GeneTests: GUCY2D
Leber Congenital Amaurosis
Human Genome Epidemiology (HuGE) Navigator: GUCY2D (6 documents)
Export disorders for GUCY2D gene to outside databases
|
Publications
for GUCY2D gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GUCY2D gene, integrated from 9 sources (see all 160):
(articles sorted by number of sources associating them with GUCY2D) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Molecular cloning of a retina-specific membrane guanylyl cyclase. (PubMed id 1356371)1, 2, 3, 9 Shyjan A.W.... Lowe D.G. (1992)
- Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. (PubMed id 12552567)1, 2, 3, 9 Udar N....Small K.W. (2003)
- Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. (PubMed id 15123990)1, 2, 9 Tucker C.L.... Koenekoop R.K. (2004)
- Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. (PubMed id 9888789)1, 2, 9 Duda T....Sharma R.K. (1999)
- Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. (PubMed id 7806240)1, 2, 9 Oliveira L....Pittler S.J. (1994)
- Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. (PubMed id 12365911)1, 2, 9 Koenekoop R.K.... Maumenee I. (2002)
- Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. (PubMed id 9618177)1, 2, 9 Kelsell R.E.... Hunt D.M. (1998)
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PubMed id 17724218)1, 2, 9 Simonelli F....Banfi S. (2007)
- Mutational analysis and clinical correlation in Leber congenital amaurosis. (PubMed id 11035546)1, 2, 9 Dharmaraj S.R.... Maumenee I.H. (2000)
- Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. (PubMed id 8944027)1, 2, 9 Perrault I....Kaplan J. (1996)
|
External Searches for GUCY2D gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GUCY2D gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing GUCY2D gene
(According to HUGE)
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Specialized Databases showing GUCY2D gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for GUCY2D | Pharmacogenomics, SNPs, Pathways | | Mutations of the GUCY2D gene | http://www.retina-international.org/files/sci-news/gcmut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GUCY2D |
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| Patent Information for GUCY2D gene:
Search GeneIP for patents involving GUCY2D
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for GUCY2D gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for GUCY2D | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GUCY2D | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GUCY2D | | | OriGene Protein Over-expression Lysate for GUCY2D | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GUCY2D | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2D | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GUCY2D | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for GUCY2D | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for GUCY2D | | OriGene Custom Protein Services for GUCY2D | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GUCY2D | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GUCY2D | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GUCY2D | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GUCY2D | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GUCY2D | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GUCY2D |
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| | | | Search Tocris compounds for GUCY2D |
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 | | | GUCY2D Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUCY2D |
|  |  |  | | | | Search ThermoFisher Antibodies for GUCY2D |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GUCY2D |
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