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GUCA1B Gene

protein-coding   GIFtS: 60
GCID: GC06M042151

Guanylate Cyclase Activator 1B (Retina)

  See GUCA1B-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 Activator 1B (Retina)1 2     RP482 5
GCAP22 3 5     Guanylate Cyclase-Activating Protein, Photoreceptor 22
GCAP 22 3     Guanylyl Cyclase-Activating Protein 22
GUCA22 5     Guanylate Cyclase Activator 1B3

External Ids:    HGNC: 46791   Entrez Gene: 29792   Ensembl: ENSG000001125997   OMIM: 6022755   UniProtKB: Q9UMX63   

Export aliases for GUCA1B gene to outside databases

Previous GC identifers: GC06M042154 GC06M042198 GC06M042199 GC06M042259 GC06M041870


(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 GUCA1B Gene:
The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases.
This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it
on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. (provided by RefSeq, Nov 2009)

GeneCards Summary for GUCA1B Gene:
GUCA1B (guanylate cyclase activator 1B (retina)) is a protein-coding gene. Diseases associated with GUCA1B include guca1b-related retinitis pigmentosa, and retinitis pigmentosa 48. GO annotations related to this gene include calcium sensitive guanylate cyclase activator activity and calcium ion binding. An important paralog of this gene is HPCA.

UniProtKB/Swiss-Prot: GUC1B_HUMAN, Q9UMX6
Function: Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2
when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in
recovery of the dark state of rod photoreceptors following light exposure

Gene Wiki entry for GUCA1B 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GUCA1B gene promoter:
         p300   Pax-2   Pax-2a   CUTL1   Tal-1beta   E47   HSF2   ZID   ITF-2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGUCA1B promoter sequence
   Search Chromatin IP Primers for GUCA1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GUCA1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

GUCA1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GUCA1B gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M042151:  view genomic region     (about GC identifiers)

Start:
42,151,022 bp from pter      End:
42,162,694 bp from pter
Size:
11,673 bases      Orientation:
minus 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: GUC1B_HUMAN, Q9UMX6 (See protein sequence)
Recommended Name: Guanylyl cyclase-activating protein 2  
Size: 200 amino acids; 23420 Da
Miscellaneous: Binds three calcium ions (By similarity)
Secondary accessions: Q9NU15

Explore the universe of human proteins at neXtProt for GUCA1B: NX_Q9UMX6

Explore proteomics data for GUCA1B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GUCA1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002089.4  
    ENSEMBL proteins: 
     ENSP00000230361  
    Reactome Protein details: Q9UMX6

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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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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    5 InterPro protein domains:
     IPR001125 Recoverin_like
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR015756 GCAP-2
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q9UMX6

    ProtoNet protein and cluster: Q9UMX6

    UniProtKB/Swiss-Prot: GUC1B_HUMAN, Q9UMX6
    Similarity: Contains 4 EF-hand domains


    Find genes that share domains with GUCA1B           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: GUC1B_HUMAN, Q9UMX6
    Function: Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2
    when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in
    recovery of the dark state of rod photoreceptors following light exposure

         Genatlas biochemistry entry for GUCA1B:
    guanylate cyclase-activating protein,only expressed in the retina,calmodulin family,regulating phosphoreceptor
    membrane guanylyl cyclase RETGC2 in a Ca2+ sensitive manner (but less effective than GCAP1 for stimulating
    RETGC1)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008048calcium sensitive guanylate cyclase activator activity IEA--
    GO:0030249guanylate cyclase regulator activity ----
         
    Find genes that share ontologies with GUCA1B           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Guca1b):
     vision/eye 

    Find genes that share phenotypes with GUCA1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GUCA1B: Guca1btm1Amd Guca1a/Guca1bGuca1a/tm1Jnc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GUCA1B
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    hsa-miR-1178 hsa-miR-588 hsa-miR-767-3p hsa-miR-3065-3p hsa-miR-765 hsa-miR-3162-5p hsa-miR-3160-3p hsa-miR-494
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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
    GUC1B_HUMAN, Q9UMX6: Cell membrane. Note=Membranes of outer segment
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    nucleus2
    golgi apparatus1
    mitochondrion1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ----
    GO:0001917photoreceptor inner segment IEA--
    GO:0097381photoreceptor disc membrane TAS--

    Find genes that share ontologies with GUCA1B           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 GUCA1B About   (see all 6)  
    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
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    3Olfactory Signaling Pathway
    Olfactory transduction0.82
    4Signaling by GPCR
    Signal Transduction0.58
    5Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods


    Find genes that share SuperPaths with GUCA1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GUCA1B
        Visual Cycle in Retinal Rods

    2 BioSystems Pathways for GUCA1B
        Visual signal transduction- Cones
    Visual signal transduction- Rods

    1 Reactome Pathway for GUCA1B
        Inactivation, recovery and regulation of the phototransduction cascade


    2 Kegg Pathways  (Kegg details for GUCA1B):
        Olfactory transduction
    Phototransduction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GUCA1B
    Interactions:

        GeneGlobe Interaction Network for GUCA1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for GUCA1B (Q9UMX63 ENSP000002303614) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GUCY2DQ028463, ENSP000002548544I2D: score=1 STRING: ENSP00000254854
    GUCY2FP518413, ENSP000002180064I2D: score=1 STRING: ENSP00000218006
    GUCA1AENSP000000534694STRING: ENSP00000053469
    GUCA1CENSP000002610474STRING: ENSP00000261047
    CNGA3ENSP000002726024STRING: ENSP00000272602
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007168receptor guanylyl cyclase signaling pathway TAS1327879
    GO:0007267cell-cell signaling TAS1409606
    GO:0007589body fluid secretion TAS1327879
    GO:0007601visual perception IEA--
    GO:0007602phototransduction ----

    Find genes that share ontologies with GUCA1B           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 GUCA1B (GUC1B)

    1 HMDB Compound for GUCA1B    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 Novoseek inferred chemical compound relationships for GUCA1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 85.2 45 17936244 (3), 19616509 (2), 9114059 (2), 15452722 (2) (see all 17)
    cgmp 62.7 4 12950265 (1), 9698373 (1), 10430891 (1), 15123990 (1)
    calcium 50.2 44 8702620 (7), 10383444 (6), 10196158 (4), 8662612 (3) (see all 14)
    cysteine 11.9 3 17368568 (2), 12390029 (1)



    Find genes that share compounds with GUCA1B           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 GUCA1B gene: 
    NM_002098.5  

    Unigene Cluster for GUCA1B:

    Guanylate cyclase activator 1B (retina)
    Hs.446529  [show with all ESTs]
    Unigene Representative Sequence: BX537393
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000230361(uc003orz.3)
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    hsa-miR-1178 hsa-miR-588 hsa-miR-767-3p hsa-miR-3065-3p hsa-miR-765 hsa-miR-3162-5p hsa-miR-3160-3p hsa-miR-494
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    Additional mRNA sequence: BX537393.1 

    2 DOTS entries:

    DT.99978776  DT.91904627 

    Selected AceView cDNA sequences (see all 36):

    BM689252 AA378172 AI424326 BE220617 BQ637863 BM686135 AW136419 BQ636025 
    CB988985 BQ447506 BM690083 BX111942 NM_002098 BM662840 AW002033 BQ638996 
    AA317761 BM701070 BM690003 BX490619 AI306391 BX537393 AI377509 H40682 

    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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    GUCA1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGGACCC
    GUCA1B Expression
    About this image


    GUCA1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    GUCA1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GUCA1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.446529

    UniProtKB/Swiss-Prot: GUC1B_HUMAN, Q9UMX6
    Tissue specificity: Retina. Cones and rod

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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 chordates.

    Orthologs for GUCA1B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Guca1b1 , 5 guanylate cyclase activator 1B1, 5 86.17(n)1
    88.5(a)1
      17 (23.04 cM)5
    1074771  NM_146079.11  NP_666191.11 
     473853935 
    chicken
    (Gallus gallus)
    Aves GUCA1B1 guanylate cyclase activator 1B (retina) 73.4(n)
    78.28(a)
      419864  NM_001007881.2  NP_001007882.1 
    lizard
    (Anolis carolinensis)
    Reptilia GUCA1B6
    guanylate cyclase activator 1B (retina)
    67(a)
    1 ↔ 1
    4(126191369-126214662)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004895091 guanylyl cyclase-activating protein 2-like 72.25(n)
    78.68(a)
      100489509  XM_002933507.2  XP_002933553.1 
    zebrafish
    (Danio rerio)
    Actinopterygii guca1b2 guanylate cyclase activator 1B 79.03(n)   140431  AY044456.1 


    ENSEMBL Gene Tree for GUCA1B (if available)
    TreeFam Gene Tree for GUCA1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GUCA1B gene
    HPCA2  KCNIP32  KCNIP42  KCNIP12  GUCA1A2  RCVRN2  HPCAL12  NCALD2  
    KCNIP22  HPCAL42  NCS12  GUCA1C2  VSNL12  
    Selected SIMAP similar genes for GUCA1B using alignment to 2 protein entries:     GUC1B_HUMAN (see all proteins) (see all similar genes):
    DKFZp686E1183    KRT13    JUP    KRT14    KRT16    KRT15
    KRT17    KRT19    keratin    KRT10    KRT18    KRT23
    KRT9    KRT40    GUCA1A    HPCAL4    NCALD    VSNL1

    Find genes that share paralogs with GUCA1B           About GenesLikeMe



    (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 GUCA1B (see all 485)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219091241,2,,4
    CRetinitis pigmentosa 48 (RP48)4 pathogenic142063787(-) AGAATA/GGAGAT 2 R G mis10--------
    rs1505622391,2
    Cuntested142063870(+) CTCGCC/TGGCAG 2 Q R mis11Minor allele frequency- T:0.00NA 4546
    rs1378539031,2
    C,Funtested142066787(-) ATCTCG/ATGCTG 2 /M /V mis11Minor allele frequency- A:0.01NA 4550
    rs352833161,2
    C--41877778(+) CATAC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00CSA 2
    rs1495046221,2
    C--42060972(+) TTTCT-/TTCTTCTC 1 -- ds50010--------
    rs1166066551,2
    F--42061007(+) TTTGAT/CGGAAT 1 -- ds50011Minor allele frequency- C:0.10WA 118
    rs1456155871,2
    --42061111(+) CTCCCA/GAGGAG 1 -- ds50010--------
    rs1484941951,2
    --42061140(+) GCCACC/TGCACC 1 -- ds50010--------
    rs1914641951,2
    --42061181(+) AGAGAC/TGGGGT 1 -- ds50010--------
    rs1426062041,2
    --42061239(+) CCACCC/TGCCTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GUCA1B (42151022 - 42162694 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GUCA1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510026CNV Loss20534489
    nsv830649CNV Loss17160897

    Human Gene Mutation Database (HGMD): GUCA1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GUCA1B
    DNA2.0 Custom Variant and Variant Library Synthesis for GUCA1B

    (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

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    OMIM gene information: 602275   
    OMIM disorders: 613827  
    UniProtKB/Swiss-Prot: GUC1B_HUMAN, Q9UMX6
  • Retinitis pigmentosa 48 (RP48) [MIM:613827]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for GUCA1B:    
    About MalaCards
    guca1b-related retinitis pigmentosa    retinitis pigmentosa 48    leber congenital amaurosis    retinitis pigmentosa

    2 diseases from the University of Copenhagen DISEASES database for GUCA1B:
    cone-rod dystrophy     Leber congenital amaurosis

    Find genes that share disorders with GUCA1B           About GenesLikeMe

    3 Novoseek inferred disease relationships for GUCA1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinopathy 42.8 1 15505030 (1)
    retinal degeneration 38.5 1 10507726 (1)
    retinitis pigmentosa 35.2 4 15452722 (1), 15505030 (1)

    Genetic Association Database (GAD): GUCA1B
    Human Genome Epidemiology (HuGE) Navigator: GUCA1B (3 documents)

    Export disorders for GUCA1B 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)
    About This Section

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    PubMed articles for GUCA1B gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with GUCA1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. (PubMed id 15452722)1, 2, 4, 9 Sato M.... Ohguro H. (Graefes Arch. Clin. Exp. Ophthalmol. 2005)
    2. The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). (PubMed id 9119368)1, 2, 3, 9 Surguchov A.... Baehr W. (Genomics 1997)
    3. Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies. (PubMed id 10507726)1, 2, 9 Payne A.M.... Bhattacharya S.S. (J. Med. Genet. 1999)
    4. A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. (PubMed id 15505030)1, 4, 9 Nishiguchi K.M.... Baehr W. (Invest. Ophthalmol. Vis. Sci. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. [Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa]. (PubMed id 15901556)1, 4 Zhang Q.J....Guo X.M. (Yi Chuan 2002)
    7. The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2. (PubMed id 9698373)1, 9 Laura R.P. and Hurley J.B. (Biochemistry 1998)
    8. Localization of guanylate cyclase-activating protein 2 in mammalian retinas. (PubMed id 9114059)1, 9 Otto-Bruc A....Palczewski K. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    9. Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. (PubMed id 21405999)1 Kitiratschky V.B....Kohl S. (Ophthalmic Genet. 2011)
    10. Expressed sequence tag analysis of human retina for the NEIBank project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. (PubMed id 12107411)1 Wistow G.... Peterson K. (Mol. Vis. 2002)

    (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: 2979 HGNC: 4679 AceView: GUCA1B Ensembl:ENSG00000112599 euGenes: HUgn2979
    ECgene: GUCA1B Kegg: 2979 H-InvDB: GUCA1B

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GUCA1B Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for GUCA1B gene:
    Search GeneIP for patents involving GUCA1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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