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GUCY2D Gene

protein-coding   GIFtS: 65
GCID: GC17P007905

Guanylate Cyclase 2D, Membrane (Retina-Specific)

(Previous name: cone rod dystrophy 6)
(Previous symbols: CORD6, LCA, GUC2D, GUC1A4)
  See GUCY2D-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Guanylate Cyclase 2D, Membrane (Retina-Specific)1 2     LCA12 5
CORD61 2 3 5     RCD22 5
GUC2D1 2 3 5     CORD52
GUC1A41 2 3     CYGD2
LCA1 2     ROS-GC12
Cone Rod Dystrophy 61 2     ROSGC2
Guanylate Cyclase 2D, Retinal2 3     retGC2
Rod Outer Segment Membrane Guanylate Cyclase2 3     Retinal Guanylyl Cyclase 12
RETGC-12 3     RETGC3
ROS-GC2 3     RETGC13
EC 4.6.1.23 8     EC 4.6.18

External Ids:    HGNC: 46891   Entrez Gene: 30002   Ensembl: ENSG000001325187   OMIM: 6001795   UniProtKB: Q028463   

Export aliases for GUCY2D gene to outside databases

Previous GC identifers: GC17P008372 GC17P008777 GC17P007848 GC17P008106 GC17P007846


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, membrane (retina-specific)) is a protein-coding gene. Diseases associated with GUCY2D include gucy2d-related leber congenital amaurosis, and cone-rod dystrophy 6. GO annotations related to this gene include receptor activity and identical protein binding. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846
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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidGUCY2D promoter sequence
   Search Chromatin IP Primers for GUCY2D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 17p13.1

GUCY2D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GUCY2D gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007905:  view genomic region     (about GC identifiers)

Start:
7,905,912 bp from pter      End:
7,923,658 bp from pter
Size:
17,747 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846 (See protein sequence)
Recommended Name: Retinal guanylyl cyclase 1 precursor  
Size: 1103 amino acids; 120059 Da
1 PDB 3D structure from and Proteopedia for GUCY2D:
1AWL (3D)    
Secondary accessions: Q6LEA7

Explore the universe of human proteins at neXtProt for GUCY2D: NX_Q02846

Explore proteomics data for GUCY2D at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn297
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GUCY2D (Q02846) (see all 30)
     ERTEELE  ASRMEST  SEPIEVV  AIRPATK 


    See GUCY2D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000171.1  
    ENSEMBL proteins: 
     ENSP00000254854  
    Reactome Protein details: Q02846

    GUCY2D Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: guanylate cyclase 2D, membrane (retina-specific)
    Receptor Guanylate Cyclase (RGC) family

    Selected InterPro protein domains (see all 8):
     IPR028082 Peripla_BP_I
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_dom
     IPR011645 Haem_no_assoc-bd
     IPR001054 A/G_cyclase

    Graphical View of Domain Structure for InterPro Entry Q02846

    ProtoNet protein and cluster: Q02846

    1 Blocks protein domain: IPB001828 Extracellular ligand-binding receptor

    UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846
    Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family
    Similarity: Contains 1 guanylate cyclase domain
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with GUCY2D           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GUC2D_HUMAN, Q02846
    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
    Catalytic activity: GTP = 3',5'-cyclic GMP + diphosphate
    Enzyme 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
    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): EC 4.6.1.21 2 EC 4.6.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004383guanylate cyclase activity IEA--
    GO:0004672protein kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0004872receptor activity TAS1356371
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with GUCY2D           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for GUCY2D:
     Decreased substrate adherent c  Increased cell spreading 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gucy2e):
     nervous system  vision/eye 

    Find genes that share phenotypes with GUCY2D           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gucy2etm1Gar for GUCY2D

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GUCY2D
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    hsa-miR-661 hsa-miR-615-5p hsa-miR-509-5p hsa-miR-509-3-5p
    SwitchGear 3'UTR luciferase reporter plasmidGUCY2D 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GUC2D_HUMAN, Q02846: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    plasma membrane4
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005640nuclear outer membrane TAS7777544
    GO:0005887integral component of plasma membrane TAS1356371
    GO:0097381photoreceptor disc membrane TAS--

    Find genes that share ontologies with GUCY2D           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GUCY2D About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    Visual signal transduction- Rods0.51
    Visual signal transduction- Cones0.39
    Phototransduction0.51
    2G-Beta Gamma Signaling
    CRHR Pathway0.44
    Relaxin Pathway0.37
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    4Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    5Olfactory Signaling Pathway
    Olfactory transduction0.82


    Find genes that share SuperPaths with GUCY2D           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GUCY2D (see all 9)
        Sertoli-Sertoli Cell Junction Dynamics
    Relaxin Pathway
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CRHR Pathway

    2 BioSystems Pathways for GUCY2D
        Visual signal transduction- Cones
    Visual signal transduction- Rods

    1 Reactome Pathway for GUCY2D
        Inactivation, recovery and regulation of the phototransduction cascade


    3 Kegg Pathways  (Kegg details for GUCY2D):
        Purine metabolism
    Olfactory transduction
    Phototransduction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GUCY2D
    Interactions:

        GeneGlobe Interaction Network for GUCY2D

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GUCY2D (Q028462, 3 ENSP000002548544) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062412, 3, ENSP000003576564MINT-8111283 I2D: score=3 STRING: ENSP00000357656
    GUCA1AP430803, ENSP000000534694I2D: score=1 STRING: ENSP00000053469
    GUCA1BQ9UMX63, ENSP000002303614I2D: score=1 STRING: ENSP00000230361
    GUCA2BQ166613, ENSP000003616624I2D: score=1 STRING: ENSP00000361662
    S100BP042713, ENSP000002917004I2D: score=1 STRING: ENSP00000291700
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006182cGMP biosynthetic process ----
    GO:0006468protein phosphorylation ----
    GO:0007168receptor guanylyl cyclase signaling pathway TAS1356371
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--

    Find genes that share ontologies with GUCY2D           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GUCY2D (GUC2D)

    5 HMDB Compounds for GUCY2D    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    9 Novoseek inferred 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)



    Find genes that share compounds with GUCY2D           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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_000180
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254854(uc002gjt.2) ENST00000574510
    miRNA
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    Additional mRNA sequence: 

    AK125534.1 DQ426876.1 M92432.1 

    4 DOTS entries:

    DT.97832107  DT.101961149  DT.99950562  DT.91638961 

    7 AceView cDNA sequences:

    CK301185 NM_000180 M92432 BQ188824 BM688787 BM931704 BQ639990 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GUCY2D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTCTTCAA
    GUCY2D Expression
    About this image

    GUCY2D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GUCY2D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592109

    UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846
    Tissue specificity: Retina. Localized exclusively in the nuclei and inner segments of the rod and cone
    photoreceptor cells

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    In Situ
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GUCY2D gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gucy2e1 , 5 guanylate cyclase 2e1, 5 82.2(n)1
    85.22(a)1
      11 (42.51 cM)5
    149191  NM_008192.31  NP_032218.21 
     692181205 
    lizard
    (Anolis carolinensis)
    Reptilia GUCY2D6
    guanylate cyclase 2D, membrane (retina-specific)
    59(a)
    1 ↔ 1
    GL343400.1(896182-937908)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gucy2d1 guanylate cyclase 2D, membrane (retina-specific) 60.78(n)
    59.9(a)
      100496590  XM_002942632.2  XP_002942678.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gc31 guanylyl cyclase 3 58.3(n)
    54.67(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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GUCY2D gene
    ADCY52  ADCY22  GUCY2C2  NPR12  ADCY82  GUCY2F2  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

    Find genes that share paralogs with GUCY2D           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GUCY2D
    PGOHUM00000257844


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GUCY2D (see all 595)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2014145671,2,,4
    Leber congenital amaurosis 1 (LCA1)4 --7895505(+) GTTCAC/TGGTGG 2 T M mis10--------
    rs289336951,2,,4
    CCone-rod dystrophy 6 (CORD6)4 pathogenic17906994(+) CGGGAC/GCGCAC 2 D E mis10--------
    VAR_0671804
    Leber congenital amaurosis 1 (LCA1)4--see VAR_0671802 M R mis40--------
    VAR_0237704
    Leber congenital amaurosis 1 (LCA1)4--see VAR_0237702 C Y mis40--------
    VAR_0153734
    Cone-rod dystrophy 6 (CORD6)4--see VAR_0153732 R H mis40--------
    VAR_0091314
    Leber congenital amaurosis 1 (LCA1)4--see VAR_0091312 F S mis40--------
    VAR_0671824
    Leber congenital amaurosis 1 (LCA1)4--see VAR_0671822 S L mis40--------
    VAR_0091344
    Leber congenital amaurosis 1 (LCA1)4--see VAR_0091342 P S mis40--------
    VAR_0237714
    Leber congenital amaurosis 1 (LCA1)4--see VAR_0237712 L P mis40--------
    VAR_0671774
    Leber congenital amaurosis 1 (LCA1)4--see VAR_0671772 D H mis40--------

    HapMap Linkage Disequilibrium report for GUCY2D (7905912 - 7923658 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GUCY2D: --
    Human Gene Mutation Database (HGMD): GUCY2D
    Locus Specific Mutation Databases (LSDB): GUCY2D

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GUCY2D
    DNA2.0 Custom Variant and Variant Library Synthesis for GUCY2D

    (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.)
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    OMIM gene information: 600179   
    OMIM disorders: 204000  601777  
    UniProtKB/Swiss-Prot: GUC2D_HUMAN, Q02846
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for GUCY2D:    
    About MalaCards
    gucy2d-related leber congenital amaurosis    cone-rod dystrophy 6    leber congenital amaurosis 1    aipl1-related leber congenital amaurosis
    cone-rod dystrophy    rpe65-related leber congenital amaurosis    partial central choroid dystrophy    choriodal dystrophy, central areolar 2
    hyperopia    keratoconus    leber congenital amaurosis 17    cone-rod dystrophy 2
    leber congenital amaurosis

    5 diseases from the University of Copenhagen DISEASES database for GUCY2D:
    Leber congenital amaurosis     Retinal degeneration     Fundus dystrophy     Partial central choroid dystrophy
    Blindness

    Find genes that share disorders with GUCY2D           About GenesLikeMe

    10 Novoseek inferred 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
    GeneReviews: GUCY2D
    Genetic Association Database (GAD): GUCY2D
    Human Genome Epidemiology (HuGE) Navigator: GUCY2D (6 documents)

    Export disorders for GUCY2D gene to outside databases

    (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)
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    PubMed articles for GUCY2D gene, integrated from 10 sources (see all 165):
    (articles sorted by number of sources associating them with GUCY2D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a retina-specific membrane guanylyl cyclase. (PubMed id 1356371)1, 2, 3, 9 Shyjan A.W.... Lowe D.G. (Neuron 1992)
    2. 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. (Hum. Mutat. 2003)
    3. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PubMed id 17724218)1, 2, 4, 9 Simonelli F.... Banfi S. (Invest. Ophthalmol. Vis. Sci. 2007)
    4. 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. (Mol. Vis. 2004)
    5. 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. (Biochemistry 1999)
    6. Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. (PubMed id 7806240)1, 2, 9 Oliveira L....Pittler S.J. (Genomics 1994)
    7. 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. (Arch. Ophthalmol. 2002)
    8. 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. (Hum. Mol. Genet. 1998)
    9. Mutational analysis and clinical correlation in Leber congenital amaurosis. (PubMed id 11035546)1, 2, 9 Dharmaraj S.R.... Maumenee I.H. (Ophthalmic Genet. 2000)
    10. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PubMed id 19753312)1, 4, 9 Sundaresan P....Stone E.M. (Mol. Vis. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3000 HGNC: 4689 AceView: GUCY2D Ensembl:ENSG00000132518 euGenes: HUgn3000
    ECgene: GUCY2D Kegg: 3000 H-InvDB: GUCY2D

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GUCY2D Pharmacogenomics, SNPs, Pathways
    Mutations of the GUCY2D genehttp://www.retina-international.org/files/sci-news/gcmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GUCY2D[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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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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