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    GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 2977, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GUCY1A2provided by HGNC
    Official Full Name
    guanylate cyclase 1 soluble subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:4684
    See related
    Ensembl:ENSG00000152402 MIM:601244; AllianceGenome:HGNC:4684
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GC-SA2; GUC1A2
    Summary
    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]
    Expression
    Broad expression in endometrium (RPKM 8.8), placenta (RPKM 7.4) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GUCY1A2 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (106674019..107018476, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (106680493..107025581, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (106544745..106889202, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369474 Neighboring gene Sharpr-MPRA regulatory region 7280 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:106265787-106266986 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:106332263-106333462 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:106448190-106449389 Neighboring gene uncharacterized LOC124902744 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:106540739-106541269 Neighboring gene uncharacterized LOC112268081 Neighboring gene TSPY like 1 pseudogene Neighboring gene RecQ like helicase pseudogene Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 pseudogene Neighboring gene uncharacterized LOC105369475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:106827863-106828467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3869 Neighboring gene Sharpr-MPRA regulatory region 1938 Neighboring gene uncharacterized LOC105369477 Neighboring gene argininosuccinate synthetase 1 pseudogene 13 Neighboring gene uncharacterized LOC124902745

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Interfacial residues promote an optimal alignment of the catalytic center in human soluble guanylate cyclase: heterodimerization is required but not sufficient for activity. Seeger F, et al. Biochemistry, 2014 Apr 8. PMID 24669844, Free PMC Article
    2. Role of soluble guanylyl cyclase-cyclic GMP signaling in tumor cell proliferation. Mujoo K, et al. Nitric Oxide, 2010 Jan 1. PMID 19948239, Free PMC Article
    3. On the activation of soluble guanylyl cyclase by nitric oxide. Bellamy TC, et al. Proc Natl Acad Sci U S A, 2002 Jan 8. PMID 11752394, Free PMC Article
    4. Expression and tissue localization of soluble guanylyl cyclase in the human placenta using novel antibodies directed against the alpha(2) subunit. Bamberger AM, et al. J Clin Endocrinol Metab, 2001 Feb. PMID 11158065
    5. Tissue distribution of the human soluble guanylate cyclases. Budworth J, et al. Biochem Biophys Res Commun, 1999 Oct 5. PMID 10512742

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circadian gene ARNTL initiates circGUCY1A2 transcription to suppress non-small cell lung cancer progression via miR-200c-3p/PTEN signaling.
      Title: Circadian gene ARNTL initiates circGUCY1A2 transcription to suppress non-small cell lung cancer progression via miR-200c-3p/PTEN signaling.
    2. The data support a novel regulatory mechanism whereby sGC activity is tuned by distinct domain interactions that either promote or inhibit catalytic activity.
      Title: Interfacial residues promote an optimal alignment of the catalytic center in human soluble guanylate cyclase: heterodimerization is required but not sufficient for activity.
    3. The CO binding affinity of soluble guanylate cyclase alpha 2 subunit is threefold greater than that of human soluble guanylate cyclase alpha 1 subunit.
      Title: Structural and functional insights into the heme-binding domain of the human soluble guanylate cyclase α2 subunit and heterodimeric α2β1.
    4. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Gene-environment interaction in the etiology of mathematical ability using SNP sets.
    5. The sGC alpha 1observed in OVCAR-3 and MDA-MB-468 cancer cells which correlated well with the sGC activity and a marked increase in cGMP levels upon exposure to the combination of a NO donor and a sGC activator.
      Title: Role of soluble guanylyl cyclase-cyclic GMP signaling in tumor cell proliferation.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    8. No significant changes were found in sGC subunit mRNAs in people with schizophrenia or in controls.
      Title: Expression of nNOS and soluble guanylate cyclase in schizophrenic brain.
    9. Soluble guanylyl cyclase (sGC) is the major cellular receptor for the intercellular messenger nitric oxide (NO) and mediates a wide range of physiological effects through elevation of intracellular cGMP levels
      Title: On the activation of soluble guanylyl cyclase by nitric oxide.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat potentiates NMDA-evoked (Ca2+)I responses involve LRP and a Src family kinase via the NOS/sGC/PKG pathway PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cGMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cGMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nitric oxide mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of nitric oxide mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to oxygen levels IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of guanylate cyclase complex, soluble IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    guanylate cyclase soluble subunit alpha-2
    Names
    GCS-alpha-2
    guanylate cyclase 1, soluble, alpha 2
    NP_000846.1
    NP_001243353.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_000855.3 → NP_000846.1  guanylate cyclase soluble subunit alpha-2 isoform 2

      See identical proteins and their annotated locations for NP_000846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AP003078, AP005014, CA774108, X63282
      Consensus CDS
      CCDS8335.1
      UniProtKB/Swiss-Prot
      A1L4C4, B7ZLT5, P33402
      Related
      ENSP00000431245.2, ENST00000526355.7
      Conserved Domains (3) summary
      pfam00211
      Location:514 → 698
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07700
      Location:159 → 270
      HNOB; Haem-NO-binding
      pfam07701
      Location:316 → 503
      HNOBA; Heme NO binding associated

    2. NM_001256424.2 → NP_001243353.1  guanylate cyclase soluble subunit alpha-2 isoform 1

      See identical proteins and their annotated locations for NP_001243353.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP003078, AP005014, CA774108, Z50053
      Consensus CDS
      CCDS58170.1
      UniProtKB/Swiss-Prot
      P33402
      Related
      ENSP00000282249.2, ENST00000282249.6
      Conserved Domains (4) summary
      smart00044
      Location:485 → 705
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:514 → 729
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07700
      Location:159 → 270
      HNOB; Haem-NO-binding
      pfam07701
      Location:316 → 503
      HNOBA; Heme NO binding associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      106674019..107018476 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      106680493..107025581 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P33402.1 GenPept UniProtKB/Swiss-Prot:P33402

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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