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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
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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

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