Human Gene GUCY1B2 (uc010tgo.2) Description and Page Index
  Description: Homo sapiens guanylate cyclase 1, soluble, beta 2 (pseudogene) (GUCY1B2), non-coding RNA.
Transcript (Including UTRs)
   Position: hg19 chr13:51,590,244-51,654,998 Size: 64,755 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr13:51,590,302-51,603,789 Size: 13,488 Coding Exon Count: 7 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:51,590,244-51,654,998)mRNA (may differ from genome)Protein (374 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
HGNCLynxMGIPubMedStanford SOURCEUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GUCY1B2
CDC HuGE Published Literature: GUCY1B2
Positive Disease Associations: Apolipoprotein A-I , bipolar disorder , Cholesterol , Echocardiography
Related Studies:
  1. Apolipoprotein A-I
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. bipolar disorder
    Djurovic S et al. 2010, A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample., Journal of affective disorders 126 : 312-6 2010. [PubMed 20451256]
    We detected weak but reproducible association with markers in several genes, in proximity to susceptibility loci found in previous GWAS studies of bipolar disorder. Further work is required to study their localization, expression, and regulation and international meta-analytic efforts will help to further elucidate their role.
  3. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.59 RPKM in Spleen
Total median expression: 2.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -260.90729-0.358 Picture PostScript Text
3' UTR -17.2058-0.297 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001054 - A/G_cyclase
IPR011645 - Haem_no_assoc-bd

Pfam Domains:
PF00211 - Adenylate and Guanylate cyclase catalytic domain
PF07701 - Heme NO binding associated

SCOP Domains:
55073 - Adenylyl and guanylyl cyclase catalytic domain

ModBase Predicted Comparative 3D Structure on Q5T8J7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  AK296746 - Homo sapiens cDNA FLJ60650 complete cds, highly similar to Guanylate cyclase soluble subunit beta-2 (EC4.6.1.2).
AF038499 - Homo sapiens soluble guanylyl cyclase subunit beta 2 (GUCY1B2) mRNA, complete cds.
JD062989 - Sequence 44013 from Patent EP1572962.
JD378499 - Sequence 359523 from Patent EP1572962.
JD440256 - Sequence 421280 from Patent EP1572962.
JD350692 - Sequence 331716 from Patent EP1572962.
JD251540 - Sequence 232564 from Patent EP1572962.
DQ577890 - Homo sapiens piRNA piR-46002, complete sequence.
JD343227 - Sequence 324251 from Patent EP1572962.
JD485363 - Sequence 466387 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY3DJ-7 - cyclic GMP biosynthesis

BioCarta from NCI Cancer Genome Anatomy Project
h_raccPathway - Ion Channels and Their Functional Role in Vascular Endothelium

-  Other Names for This Gene
  Alternate Gene Symbols: AK296746, Q5T8J7, Q5T8J7_HUMAN, RP11-40A8.2-004
UCSC ID: uc010tgo.2
RefSeq Accession: NR_003923
Protein: Q5T8J7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK296746.1
exon count: 12CDS single in 3' UTR: no RNA size: 1912
ORF size: 1125CDS single in intron: no Alignment % ID: 99.74
txCdsPredict score: 1378.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 73# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.