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Aliases for GUCY1A2 Gene

Aliases for GUCY1A2 Gene

  • Guanylate Cyclase 1 Soluble Subunit Alpha 2 2 3
  • Guanylate Cyclase 1, Soluble, Alpha 2 2 3 5
  • GCS-Alpha-2 3 4
  • EC 4.6.1.2 4 61
  • GUC1A2 3 4
  • Guanylate Cyclase Soluble Subunit Alpha-2 3
  • GC-SA2 3
  • GUCSA2 4

External Ids for GUCY1A2 Gene

Previous HGNC Symbols for GUCY1A2 Gene

  • GUC1A2

Previous GeneCards Identifiers for GUCY1A2 Gene

  • GC11M108716
  • GC11M107914
  • GC11M106095
  • GC11M106063
  • GC11M102490
  • GC11M106548

Summaries for GUCY1A2 Gene

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 Subunit Alpha 2) is a Protein Coding gene. Diseases associated with GUCY1A2 include Kabuki Syndrome 1. Among its related pathways are NO-dependent CFTR activation (normal and CF) and Platelet activation, signaling and aggregation. GO annotations related to this gene include GTP binding and phosphorus-oxygen lyase activity. An important paralog of this gene is GUCY1A3.

UniProtKB/Swiss-Prot for GUCY1A2 Gene

  • Has guanylyl cyclase on binding to the beta-1 subunit.

  • Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits.

Tocris 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. There are two main groups of guanylyl cyclase.

Gene Wiki entry for GUCY1A2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUCY1A2 Gene

Genomics for GUCY1A2 Gene

Regulatory Elements for GUCY1A2 Gene

Enhancers for GUCY1A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GUCY1A2 on UCSC Golden Path with GeneCards custom track

Promoters for GUCY1A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GUCY1A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GUCY1A2 Gene

Chromosome:
11
Start:
106,674,012 bp from pter
End:
107,018,524 bp from pter
Size:
344,513 bases
Orientation:
Minus strand

Genomic View for GUCY1A2 Gene

Genes around GUCY1A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCY1A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUCY1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCY1A2 Gene

Proteins for GUCY1A2 Gene

  • Protein details for GUCY1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33402-GCYA2_HUMAN
    Recommended name:
    Guanylate cyclase soluble subunit alpha-2
    Protein Accession:
    P33402
    Secondary Accessions:
    • A1L4C4
    • B7ZLT5

    Protein attributes for GUCY1A2 Gene

    Size:
    732 amino acids
    Molecular mass:
    81750 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta chain.
    Miscellaneous:
    • There are two types of guanylate cyclases: soluble forms and membrane-associated receptor forms.

    Alternative splice isoforms for GUCY1A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GUCY1A2 Gene

Post-translational modifications for GUCY1A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GUCY1A2 Gene

Domains & Families for GUCY1A2 Gene

Suggested Antigen Peptide Sequences for GUCY1A2 Gene

Graphical View of Domain Structure for InterPro Entry

P33402

UniProtKB/Swiss-Prot:

GCYA2_HUMAN :
  • Contains 1 guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • Contains 1 guanylate cyclase domain.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with GUCY1A2: view

Function for GUCY1A2 Gene

Molecular function for GUCY1A2 Gene

GENATLAS Biochemistry:
guanylate cyclase,soluble,alpha-2 subunit,79kDa,heterodimerizing with GUCY1B1
UniProtKB/Swiss-Prot CatalyticActivity:
GTP = 3,5-cyclic GMP + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by nitric oxide in the presence of magnesium or manganese ions.
UniProtKB/Swiss-Prot Function:
Has guanylyl cyclase on binding to the beta-1 subunit.
UniProtKB/Swiss-Prot Function:
Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits.

Enzyme Numbers (IUBMB) for GUCY1A2 Gene

Gene Ontology (GO) - Molecular Function for GUCY1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 NOT adenylate cyclase activity IBA --
GO:0004383 guanylate cyclase activity IEA --
GO:0005515 protein binding IEA --
GO:0005525 GTP binding IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with GUCY1A2: view
genes like me logo Genes that share phenotypes with GUCY1A2: view

Animal Models for GUCY1A2 Gene

MGI Knock Outs for GUCY1A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GUCY1A2 Gene

Localization for GUCY1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCY1A2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GUCY1A2 Gene COMPARTMENTS Subcellular localization image for GUCY1A2 gene
Compartment Confidence
cytosol 4
plasma membrane 4
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GUCY1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0008074 guanylate cyclase complex, soluble IBA --
genes like me logo Genes that share ontologies with GUCY1A2: view

Pathways & Interactions for GUCY1A2 Gene

genes like me logo Genes that share pathways with GUCY1A2: view

Gene Ontology (GO) - Biological Process for GUCY1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006182 cGMP biosynthetic process IEA --
GO:0007165 signal transduction TAS 1683630
GO:0030828 positive regulation of cGMP biosynthetic process IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with GUCY1A2: view

No data available for SIGNOR curated interactions for GUCY1A2 Gene

Drugs & Compounds for GUCY1A2 Gene

(19) Drugs for GUCY1A2 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Riociguat Approved Pharma Target, agonist, stimulator Soluble guanylate cyclase (sGC) stimulator 0
Nitric Oxide Approved Pharma stimulator, Target, inducer 585
Isosorbide Mononitrate Approved Pharma Target, inducer 0
Phosphoric acid Approved Pharma 0
Manganese Approved Nutra 33

(1) Additional Compounds for GUCY1A2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8

(4) Tocris Compounds for GUCY1A2 Gene

Compound Action Cas Number
A 350619 hydrochloride Soluble guanylyl cyclase (sGC) activator 1217201-17-6
Guanylin (human) Endogenous activator of intestinal guanylyl cyclase 183200-12-6
NS 2028 Potent soluble guanylyl cyclase (sGC) inhibitor 204326-43-2
Zinc protoporphyrin IX Heme oxygenase and guanylyl cyclase inhibitor 15442-64-5

(8) ApexBio Compounds for GUCY1A2 Gene

Compound Action Cas Number
A 350619 hydrochloride Activator of soluble guanylyl cyclase (sGC) 1217201-17-6
BAY 41-2272 Activator of soluble guanylyl cyclase (sGC) 256376-24-6
BPIPP 325746-94-9
CFM 1571 hydrochloride sGC activator 1215548-30-3
Cinaciguat Soluble guanylate cyclase (sGC) activators 329773-35-5
Guanylin (human) 183200-12-6
NS 2028 204326-43-2
Riociguat Soluble guanylate cyclase (sGC) stimulator 625115-55-1
genes like me logo Genes that share compounds with GUCY1A2: view

Transcripts for GUCY1A2 Gene

mRNA/cDNA for GUCY1A2 Gene

Unigene Clusters for GUCY1A2 Gene

Guanylate cyclase 1, soluble, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUCY1A2 Gene

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

Relevant External Links for GUCY1A2 Gene

GeneLoc Exon Structure for
GUCY1A2
ECgene alternative splicing isoforms for
GUCY1A2

Expression for GUCY1A2 Gene

mRNA expression in normal human tissues for GUCY1A2 Gene

Protein differential expression in normal tissues from HIPED for GUCY1A2 Gene

This gene is overexpressed in Fetal Brain (19.7), Frontal cortex (13.5), Uterus (11.0), and Bone (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GUCY1A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GUCY1A2 Gene:

GUCY1A2

SOURCE GeneReport for Unigene cluster for GUCY1A2 Gene:

Hs.24321

mRNA Expression by UniProt/SwissProt for GUCY1A2 Gene:

P33402-GCYA2_HUMAN
Tissue specificity: Isoform 1 is expressed in fetal brain, liver, colon, endothelium and testis. Isoform 2 is expressed only in liver, colon and endothelium.
genes like me logo Genes that share expression patterns with GUCY1A2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for GUCY1A2 Gene

Orthologs for GUCY1A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GUCY1A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GUCY1A2 34
  • 91.74 (n)
  • 93.97 (a)
GUCY1A2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GUCY1A2 34
  • 89.98 (n)
  • 92.49 (a)
GUCY1A2 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gucy1a2 34
  • 87.03 (n)
  • 90.55 (a)
Gucy1a2 16
Gucy1a2 35
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GUCY1A2 34
  • 99.08 (n)
  • 99.21 (a)
GUCY1A2 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gucy1a2 34
  • 87.17 (n)
  • 91.23 (a)
oppossum
(Monodelphis domestica)
Mammalia GUCY1A2 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY1A2 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCY1A2 34
  • 80.57 (n)
  • 86.49 (a)
GUCY1A2 35
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCY1A2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy1a2 34
  • 76.01 (n)
  • 81.97 (a)
zebrafish
(Danio rerio)
Actinopterygii GUCY1A2 35
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gycalpha99B 36
  • 38 (a)
Gycalpha99B 34
  • 50.74 (n)
  • 43.64 (a)
Gycalpha99B 35
  • 36 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000280 34
  • 48.09 (n)
  • 41.1 (a)
worm
(Caenorhabditis elegans)
Secernentea gcy-31 36
  • 34 (a)
gcy-37 36
  • 25 (a)
gcy-5 35
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
Species where no ortholog for GUCY1A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUCY1A2 Gene

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

Paralogs for GUCY1A2 Gene

Paralogs for GUCY1A2 Gene

(4) SIMAP similar genes for GUCY1A2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GUCY1A2: view

Variants for GUCY1A2 Gene

Sequence variations from dbSNP and Humsavar for GUCY1A2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_036420 A colorectal cancer sample
VAR_036421 A colorectal cancer sample
rs989017 -- 106,814,735(+) TACAC(A/C)GTCAT intron-variant
rs1026399 -- 106,998,537(-) ATCCA(A/G)TCAGT intron-variant
rs1116707 -- 106,837,086(+) atttc(A/G)tcacc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GUCY1A2 Gene

Variant ID Type Subtype PubMed ID
dgv147e201 CNV deletion 23290073
dgv2154n54 CNV loss 21841781
dgv2155n54 CNV loss 21841781
dgv2156n54 CNV loss 21841781
dgv2157n54 CNV loss 21841781
dgv2158n54 CNV loss 21841781
dgv2159n54 CNV loss 21841781
dgv2160n54 CNV loss 21841781
dgv239n67 CNV loss 20364138
dgv41e19 CNV gain 19470904
dgv718n106 CNV deletion 24896259
esv1005254 CNV insertion 20482838
esv1074601 CNV insertion 17803354
esv1117785 CNV insertion 17803354
esv1462632 CNV deletion 17803354
esv1671016 CNV insertion 17803354
esv2222990 CNV deletion 18987734
esv2590906 CNV deletion 19546169
esv2620868 CNV insertion 19546169
esv2661753 CNV deletion 23128226
esv2663324 CNV deletion 23128226
esv2667580 CNV deletion 23128226
esv2669729 CNV deletion 23128226
esv2675821 CNV deletion 23128226
esv2745032 CNV deletion 23290073
esv2745033 CNV deletion 23290073
esv2745034 CNV deletion 23290073
esv2745035 CNV deletion 23290073
esv2745036 CNV deletion 23290073
esv2745037 CNV deletion 23290073
esv2745038 CNV deletion 23290073
esv2745040 CNV deletion 23290073
esv28258 CNV loss 19812545
esv3310453 CNV novel sequence insertion 20981092
esv3360866 CNV insertion 20981092
esv3548307 CNV deletion 23714750
esv3548309 CNV deletion 23714750
esv3548311 CNV deletion 23714750
esv3579899 CNV loss 25503493
esv3627636 CNV loss 21293372
esv3627638 CNV loss 21293372
esv3892097 CNV loss 25118596
esv5504 CNV gain 19470904
esv9628 CNV loss 19470904
esv997476 CNV deletion 20482838
nsv1052674 CNV loss 25217958
nsv1070068 CNV deletion 25765185
nsv1070986 CNV deletion 25765185
nsv1119907 CNV deletion 24896259
nsv1121479 CNV deletion 24896259
nsv1125532 CNV tandem duplication 24896259
nsv1129523 CNV tandem duplication 24896259
nsv1132350 CNV duplication 24896259
nsv1138069 CNV deletion 24896259
nsv1150373 CNV insertion 26484159
nsv38495 CNV insertion 16902084
nsv39525 CNV insertion 16902084
nsv39784 CNV deletion 16902084
nsv474 CNV deletion 18451855
nsv474897 CNV novel sequence insertion 20440878
nsv478969 CNV novel sequence insertion 20440878
nsv498770 CNV loss 21111241
nsv514589 CNV loss 21397061
nsv527620 CNV loss 19592680
nsv556228 CNV loss 21841781
nsv556229 CNV loss 21841781
nsv556230 CNV loss 21841781
nsv556231 CNV loss 21841781
nsv958618 CNV deletion 24416366
nsv972067 CNV duplication 23825009
nsv983210 CNV deletion 23825009

Variation tolerance for GUCY1A2 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GUCY1A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCY1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUCY1A2 Gene

Disorders for GUCY1A2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GUCY1A2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GUCY1A2

Genetic Association Database (GAD)
GUCY1A2
Human Genome Epidemiology (HuGE) Navigator
GUCY1A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUCY1A2
genes like me logo Genes that share disorders with GUCY1A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GUCY1A2 Gene

Publications for GUCY1A2 Gene

  1. Molecular cloning and expression of a new alpha-subunit of soluble guanylyl cyclase. Interchangeability of the alpha-subunits of the enzyme. (PMID: 1683630) Harteneck C. … Schultz G. (FEBS Lett. 1991) 2 3 4 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 65
  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. (PMID: 7673142) Behrends S. … Koesling D. (J. Biol. Chem. 1995) 3 4 65
  5. HIV-1 protein Tat produces biphasic changes in NMDA-evoked increases in intracellular Ca2+ concentration via activation of Src kinase and nitric oxide signaling pathways. (PMID: 24666322) Krogh K.A. … Thayer S.A. (J. Neurochem. 2014) 3 65

Products for GUCY1A2 Gene

Sources for GUCY1A2 Gene

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