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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GUCY1A2 Gene

protein-coding   GIFtS: 65
GCID: GC11M106591

Guanylate Cyclase 1, Soluble, Alpha 2


(Previous symbol: GUC1A2)
  See 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)
About This Section

Aliases
Guanylate Cyclase 1, Soluble, Alpha 21 2     GC-SA22
GUC1A21 2 3 5     Guanylate Cyclase Soluble Subunit Alpha-22
GCS-alpha-22 3     GUCSA23
EC 4.6.1.23 8     

External Ids:    HGNC: 46841   Entrez Gene: 29772   Ensembl: ENSG000001524027   OMIM: 6012445   UniProtKB: P334023   

Export aliases for GUCY1A2 gene to outside databases

Previous GC identifers: GC11M108716 GC11M107914 GC11M106095 GC11M106063 GC11M102490


(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 GUCY1A2 Gene:
Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and
pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta
subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2012)

GeneCards Summary for GUCY1A2 Gene: 
GUCY1A2 (guanylate cyclase 1, soluble, alpha 2) is a protein-coding gene. Diseases associated with GUCY1A2 include familial colorectal cancer, and colorectal cancer, and among its related super-pathways are Gap junction and cGMP effects. GO annotations related to this gene include guanylate cyclase activity and GTP binding. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot: GCYA2_HUMAN, P33402
Function: Has guanylyl cyclase on binding to the beta-1 subunit
Function: Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional
heterodimers with the beta subunits

summary for GUCY1A2 Gene:
Guanylyl Cyclases (GC) are a group of enzymes that, in the presence of a metal ion co-factor such as Mg2+ or
Mn2+, convert guanosine-5'-triphosphate (GTP) into 3',5'-guanosine monophosphate (cGMP) and pyrophosphate.
The second messenger cGMP participates in signaling by stimulating protein kinase G enzymes, altering the
conductance of cGMP-gated ion channels and changing the activity of cGMP-regulated phosphodiesterases. There
are two main groups of guanylyl cyclase; soluble GC (sGC), which are the receptor for nitric oxide (NO) and
transmembrane GC (pGC), which serves as a receptor for natriuretic peptides. Key physiological roles for
guanylyl cyclases include regulation of cell hyperplasia, hypertrophy, migration, extracellular matrix
production, cell differentiation and tumor progression. In addition, guanylyl cyclases mediate important
communication between the heart, intestine and kidney to regulate blood volume and Na+ balance.

Gene Wiki entry for GUCY1A2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GUCY1A2 gene promoter:
         Ik-3   Evi-1   CREB   IRF-2   Nkx6-1   POU2F1   FOXJ2 (long isoform)   POU2F1a   Cart-1   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGUCY1A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GUCY1A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GUCY1A2


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

Entrez Gene cytogenetic band: 11q21-q22   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q21-q22

GUCY1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GUCY1A2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M106591:  view genomic region     (about GC identifiers)

Start:
106,555,148 bp from pter      End:
106,889,250 bp from pter
Size:
334,103 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GCYA2_HUMAN, P33402 (See protein sequence)
Recommended Name: Guanylate cyclase soluble subunit alpha-2  
Size: 732 amino acids; 81750 Da
Subunit: Heterodimer of an alpha and a beta chain
Subcellular location: Cytoplasm
Miscellaneous: There are two types of guanylate cyclases: soluble forms and membrane-associated receptor forms
Secondary accessions: A1L4C4
Alternative splicing: 2 isoforms:  P33402-1   P33402-2   

Explore the universe of human proteins at neXtProt for GUCY1A2: NX_P33402

Explore proteomics data for GUCY1A2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P33402

  • 4/10 DME Specific Peptides for GUCY1A2 (P33402) (see all 10)
     VAQQLWQ  LSDIPIH  FSDIVGFT  AQDGLKKR 

    GUCY1A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GUCY1A2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000846.1  NP_001243353.1  

    ENSEMBL proteins: 
     ENSP00000431245   ENSP00000282249   ENSP00000344874  
    Reactome Protein details: P33402
    Human Recombinant Protein Products for GUCY1A2: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    GUCY1A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Soluble guanylyl cyclase α 2 subunit 
    Soluble guanylyl cyclase

    5 InterPro protein domains:
     IPR011644 Heme_NO-bd
     IPR024096 NO_sig/Golgi_transp_ligand-bd
     IPR011645 Haem_no_assoc-bd
     IPR001054 A/G_cyclase
     IPR018297 A/G_cyclase_CS

    Graphical View of Domain Structure for InterPro Entry P33402

    ProtoNet protein and cluster: P33402

    UniProtKB/Swiss-Prot: GCYA2_HUMAN, P33402
    Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family
    Similarity: Contains 1 guanylate cyclase domain


    GUCY1A2 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GCYA2_HUMAN, P33402
    Function: Has guanylyl cyclase on binding to the beta-1 subunit
    Function: Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional
    heterodimers with the beta subunits
    Catalytic activity: GTP = 3',5'-cyclic GMP + diphosphate
    Enzyme regulation: Activated by nitric oxide in the presence of magnesium or manganese ions

         Genatlas biochemistry entry for GUCY1A2:
    guanylate cyclase,soluble,alpha-2 subunit,79kDa,heterodimerizing with GUCY1B1

         Enzyme Number (IUBMB): EC 4.6.1.21 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004383guanylate cyclase activity IEA--
    GO:0005525GTP binding IEA--
    GO:0016849phosphorus-oxygen lyase activity ----
    GO:0020037heme binding IEA--
         
    GUCY1A2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for GUCY1A2:
     Decreased cilium length after   Increased cell death in HCC-19  Upregulation of Wnt/beta-caten 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gucy1a2):
     cardiovascular system  hematopoietic system  no phenotypic analysis 

    GUCY1A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gucy1a2tm1.1Dko for GUCY1A2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GUCY1A2 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GUCY1A2 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31
    2Nitric oxide stimulates guanylate cyclase
    Nitric oxide stimulates guanylate cyclase0.75
    Platelet homeostasis0.34
    3G-Beta Gamma Signaling
    CRHR Pathway0.44
    Relaxin Pathway0.37
    4Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    5Development Angiotensin activation of ERK
    Development EDNRB signaling0.54

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for GUCY1A2
        Development EDNRB signaling
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2

    5/10 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GUCY1A2 (see all 10)
        Sertoli-Sertoli Cell Junction Dynamics
    Relaxin Pathway
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CRHR Pathway

    3 GeneGo (Thomson Reuters) Pathways for GUCY1A2
        Development EDNRB signaling
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2
    NO-dependent CFTR activation (normal and CF)

    3        Reactome Pathways for GUCY1A2
        Hemostasis
    Platelet homeostasis
    Nitric oxide stimulates guanylate cyclase


    5/6         Kegg Pathways  (Kegg details for GUCY1A2) (see all 6):
        Purine metabolism
    Vascular smooth muscle contraction
    Gap junction
    Circadian entrainment
    Long-term depression


    GUCY1A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GUCY1A2

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

    5/86 Interacting proteins for GUCY1A2 (P334023 ENSP000003448744) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG1Q129593, ENSP000003457314I2D: score=3 STRING: ENSP00000345731
    DLG3Q927963, ENSP000003634804I2D: score=3 STRING: ENSP00000363480
    STUB1Q9UNE73, ENSP000002195484I2D: score=1 STRING: ENSP00000219548
    GUCY1B3Q021533, ENSP000002644244I2D: score=2 STRING: ENSP00000264424
    DLG2Q157003, ENSP000003652724I2D: score=3 STRING: ENSP00000365272
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006182cGMP biosynthetic process ----
    GO:0007165signal transduction TAS1683630
    GO:0007596blood coagulation TAS--
    GO:0009190cyclic nucleotide biosynthetic process ----
    GO:0030828positive regulation of cGMP biosynthetic process IEA--

    GUCY1A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for GUCY1A2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GUCY1A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    A 350619 hydrochlorideSoluble guanylyl cyclase (sGC) activator[538368-27-3]
    Zinc protoporphyrin IXHeme oxygenase and guanylyl cyclase inhibitor[15442-64-5]
    NS 2028Potent soluble guanylyl cyclase (sGC) inhibitor[204326-43-2]
    YC 1Soluble guanylyl cyclase (sGC) activator; induces G1 cell cycle arrest[170632-47-0]
    BAY 41-2272Soluble guanylyl cyclase (sGC) activator[256376-24-6]

    6 HMDB Compounds for GUCY1A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    2 DrugBank Compounds for GUCY1A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Isosorbide MononitrateIHD (see all 6)16051-77-7targetinducer1852778 20089135
    Nitric Oxide-- 10102-43-9targetinducer1852778 20089135

    Search CenterWatch for drugs/clinical trials and news about GUCY1A2 / GCYA2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for GUCY1A2 gene (2 alternative transcripts): 
    NM_000855.2  NM_001256424.1  

    Unigene Cluster for GUCY1A2:

    Guanylate cyclase 1, soluble, alpha 2
    Hs.24321  [show with all ESTs]
    Unigene Representative Sequence: NM_001256424
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526355(uc001pjg.1) ENST00000282249(uc010rvo.1 uc009yxn.1)
    ENST00000347596
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    Additional mRNA sequence: 

    AK001875.1 AK022090.1 AK025115.1 AK098142.1 BC036599.2 BC047463.1 BC130484.1 BC130488.1 
    BC144033.1 X63282.1 Z50053.1 

    8 DOTS entries:

    DT.113553  DT.306630  DT.309243  DT.95357805  DT.91889380  DT.40266946  DT.95193496  DT.120710184 

    24/35 AceView cDNA sequences (see all 35):

    AK098142 AI560889 BX279862 NM_000855 BQ011536 AI189708 AA664160 CB267250 
    AU133670 Z50053 AI633580 X63282 BX641588 AW874355 AI091501 AI401442 
    AA456659 AI417194 BU185177 BX091019 BE645219 AU154906 H49251 BF957519 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for GUCY1A2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                      
    SP2:                                      -               


    ECgene alternative splicing isoforms for GUCY1A2

    (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

    GUCY1A2 expression in normal human tissues (normalized intensities)      GUCY1A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTTATTTA
    GUCY1A2 Expression
    About this image


    GUCY1A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
     
     Blood (Hematopoietic System)
             cd49a+ cells   

    See GUCY1A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GUCY1A2

    SOURCE GeneReport for Unigene cluster: Hs.24321

    UniProtKB/Swiss-Prot: GCYA2_HUMAN, P33402
    Tissue specificity: Isoform 1 is expressed in fetal brain, liver, colon, endothelium and testis. Isoform 2 is
    expressed only in liver, colon and endothelium

        SABiosciences Expression via Pathway-Focused PCR Array including GUCY1A2: 
              Gap Junctions in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GUCY1A2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gucy1a21 , 5 guanylate cyclase 1, soluble, alpha 21, 5 87.03(n)1
    90.55(a)1
      9 (2.14 cM)5
    2348891  NM_001033322.21  NP_001028494.11 
     35323545 
    chicken
    (Gallus gallus)
    Aves GUCY1A21 guanylate cyclase 1, soluble, alpha 2 82.27(n)
    89.23(a)
      771678  XM_001233953.2  XP_001233954.1 
    lizard
    (Anolis carolinensis)
    Reptilia GUCY1A26
    Uncharacterized protein
    82(a)
    1 ↔ 1
    3(189977382-190176801)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003308751 guanylate cyclase soluble subunit alpha-2-like 75.86(n)
    89.27(a)
      100330875  XM_002667092.2  XP_002667138.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gycalpha99B1 , 3 optokinetic behavior guanylate cyclase3
    Guanylyl cyclase alpha-subunit at 99B1
    38(a)3
    50.11(n)1
    41.75(a)1
      3 99B73
    434931  NM_057740.41  NP_477088.21 
    worm
    (Caenorhabditis elegans)
    Secernentea gcy-313 guanylate cyclase 34(a)
    (best of 2)
      X(2456247-2457440)   --


    ENSEMBL Gene Tree for GUCY1A2 (if available)
    TreeFam Gene Tree for GUCY1A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GUCY1A2 gene
    ADCY52  ADCY22  GUCY2D2  GUCY2C2  NPR12  GUCY2F2  ADCY82  ADCY72  
    ADCY92  GUCY1B32  ADCY62  ADCY12  GUCY1A32  ADCY42  NPR22  ADCY32  
    4 SIMAP similar genes for GUCY1A2 using alignment to 2 protein entries:     GCYA2_HUMAN (see all proteins):
    GUCY1A3    NPR1    GUCY1B3    GUCY1B2

    GUCY1A2 for paralogs           About GeneDecksing



    (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) 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

    10/6491 SNPs in GUCY1A2 are shown (see all 6491)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364214
    A colorectal cancer sample4--see VAR_0364212 N T mis40--------
    VAR_0364204
    A colorectal cancer sample4--see VAR_0364202 E V mis40--------
    rs802562491,2
    F--102826742(+) AAGGAT/CTGGAG 2 -- us2k11Minor allele frequency- C:0.21WA 118
    rs596447441,2
    C--106539424(+) TTTTT-/T/TT  
            
    GAGAC
    2 -- int11NA 2
    rs792913561,2
    C--106544238(+) AGATAA/TCTCGA 2 -- ds50013Minor allele frequency- T:0.16CSA WA EA 240
    rs1824166291,2
    --106544457(+) GCCTTG/TTCTTT 2 -- ds50010--------
    rs1413594991,2
    C--106544463(+) TCTTT-/GTCATA 2 -- ds50010--------
    rs1865969831,2
    --106544501(+) AATTAG/TAATGT 2 -- ds50010--------
    rs1433059271,2
    --106544542(+) AGATAA/TTTCAT 2 -- ds50010--------
    rs112118521,2
    C,F,A--106544551(+) ATGTTT/AAAAAA 2 -- ds50013Minor allele frequency- A:0.10NA 124

    HapMap Linkage Disequilibrium report for GUCY1A2 (106555148 - 106805148 bp, first 250kb of GUCY1A2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/39 variations for GUCY1A2 (see all 39):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1462632CNV Deletion17803354
    esv2590906CNV Deletion19546169
    esv2745040CNV Deletion23290073
    esv997476CNV Deletion20482838
    esv2745038CNV Deletion23290073
    esv2669729CNV Deletion23128226
    esv2745033CNV Deletion23290073
    esv2661753CNV Deletion23128226
    esv2745036CNV Deletion23290073
    esv2675821CNV Deletion23128226

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601244    OMIM disorders: --

    3 diseases for GUCY1A2:    About MalaCards
    familial colorectal cancer    colorectal cancer    retinitis


    GUCY1A2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GUCY1A2
    Human Genome Epidemiology (HuGE) Navigator: GUCY1A2 (5 documents)

    Export disorders for GUCY1A2 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

    PubMed articles for GUCY1A2 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with GUCY1A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a new alpha-subunit of soluble guanylyl cyclase. Interchangeability of the alpha-subunits of the enzyme. (PubMed id 1683630)1, 2, 3 Harteneck C....Schultz G. (1991)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    4. A variant of the alpha 2 subunit of soluble guanylyl cyclase contains an insert homologous to a region within adenylyl cyclases and functions as a dominant negative protein. (PubMed id 7673142)1, 2 Behrends S.... Koesling D. (1995)
    5. Structural and functional insights into the heme-bindi ng domain of the human soluble guanylate cyclase a2 subunit and heterodimeric a2 b1. (PubMed id 22426988)1 Wang H....Tan X. (2012)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    7. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    8. Roles of nitric oxide, carbon monoxide, and hydrogen sulfide in the regulation of the hypothalamic-pituitary-adrenal axis. (PubMed id 20089135)7 Mancuso C....Preziosi P. (2010)
    9. Gene-Environment Interaction in the Etiology of Mathe matical Ability Using SNP Sets. (PubMed id 20978832)1 Docherty S.J....Plomin R. (2010)
    10. Role of soluble guanylyl cyclase-cyclic GMP signaling in tumor cell proliferation. (PubMed id 19948239)1 Mujoo K....Murad F. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 2977 HGNC: 4684 AceView: GUCY1A2 Ensembl:ENSG00000152402 euGenes: HUgn2977
    ECgene: GUCY1A2 Kegg: 2977 H-InvDB: GUCY1A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GUCY1A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GUCY1A2 gene:
    Search GeneIP for patents involving GUCY1A2

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



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    About This Section

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