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GNAS Gene

protein-coding   GIFtS: 73
GCID: GC20P057414

GNAS Complex Locus

(Previous names: guanine nucleotide binding protein (G protein), alpha stimulating...)
(Previous symbol: GNAS1)
  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)
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Aliases
GNAS Complex Locus1 2     PHP1C2 5
GNAS11 2 3 5     POH2 5
Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity
Polypeptide 11 2
     C20orf452
Secretogranin VI1 2     GSA2
Adenylate Cyclase-Stimulating G Alpha Protein2 3     NESP2
Alternative Gene Product Encoded By XL-Exon2 3     Guanine Nucleotide Regulatory Protein2
Extra Large Alphas Protein2 3     Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas2
GSP2 3     Neuroendocrine Secretory Protein2
AHO2 5     Protein ALEX2
GPSA2 5     NESP553
PHP1A2 5     XLalphas3
PHP1B2 5     

External Ids:    HGNC: 43921   Entrez Gene: 27782   Ensembl: ENSG000000874607   OMIM: 1393205   UniProtKB: P849963   
UniProtKB: Q5JWF23   UniProtKB: P630923   UniProtKB: O954673   

Export aliases for GNAS gene to outside databases

Previous GC identifers: GC20P057143 GC20P057103 GC20P058053 GC20P058101 GC20P058102 GC20P056848 GC20P054201


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GNAS Gene:
This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and
biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some
transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in
imprinted genes and correlates with transcript expression. An antisense transcript is produced from an
overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense
transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one
of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex.
Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory
G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand
interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript
variants encoding different isoforms have been found for this gene. Mutations in this gene result in
pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy,
pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous
dysplasia of bone, and some pituitary tumors. (provided by RefSeq, Aug 2012)

GeneCards Summary for GNAS Gene:
GNAS (GNAS complex locus) is a protein-coding gene. Diseases associated with GNAS include pseudohypoparathyroidism, and prolonged bleeding time, brachydactyly and mental retardation. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAL.

UniProtKB/Swiss-Prot: GNAS2_HUMAN, P63092
Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase: it
activates the cyclase in response to beta-adrenergic stimuli. Stimulates the Ras signaling pathway via RAPGEF2

summary for GNAS Gene:
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein
contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding
results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of
second messenger signalling cascades. There are several types of Galpha proteins; Galphas and Galphai bind
directly to adenylyl cyclase and stimulate or inhibit its activity, leading to an increase or decrease in
cAMP levels respectively.

Gene Wiki entry for GNAS (GNAS complex locus) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNAS gene promoter:
         AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GNAS promoter sequence
   Search Chromatin IP Primers for GNAS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNAS


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

Entrez Gene cytogenetic band: 20q13.3   Ensembl cytogenetic band:  20q13.32   HGNC cytogenetic band: 20q13.2-q13.3

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

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P057414:  view genomic region     (about GC identifiers)

Start:
57,414,773 bp from pter      End:
57,486,250 bp from pter
Size:
71,478 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALEX_HUMAN, P84996 (See protein sequence)
Recommended Name: Protein ALEX  
Size: 626 amino acids; 67948 Da
Subunit: Interacts with the N-terminal region of the XLas isoforms of guanine nucleotide-binding protein G(s)
subunit alpha (By similarity)
Miscellaneous: This protein is produced by a bicistronic gene which also produces guanine nucleotide-binding
protein G(s) subunit alpha from an overlapping reading frame
Secondary accessions: A2A2S4

UniProtKB/Swiss-Prot: GNAS1_HUMAN, Q5JWF2 (See protein sequence)

Recommended Name: Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas  
Size: 1037 amino acids; 111025 Da
Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine
nucleotide binding site. Interacts through its N-terminal region with ALEX which is produced from the same locus
in a different open reading frame. This interaction may inhibit its adenylyl cyclase-stimulating activity (By
similarity)
Miscellaneous: This protein is produced by a bicistronic gene which also produces the ALEX protein from an
overlapping reading frame (By similarity)
Miscellaneous: The GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and
biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically
derived and the Nesp55 isoforms are maternally derived
Sequence caution: Sequence=CAB83215.1; Type=Frameshift; Positions=40; Sequence=CAM28315.1; Type=Erroneous gene
model prediction;
Secondary accessions: A2A2S3 E1P5G3 O75684 O75685 Q5JW67 Q5JWF1 Q9NY42
Alternative splicing: 7 isoforms:  Q5JWF2-1   Q5JWF2-2   Q5JWF2-3   P63092-1, P04895-1   P63092-3   P63092-2, P04895-2   O95467-1   (Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR)

UniProtKB/Swiss-Prot: GNAS2_HUMAN, P63092 (See protein sequence)

Recommended Name: Guanine nucleotide-binding protein G(s) subunit alpha isoforms short  
Size: 394 amino acids; 45665 Da
Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine
nucleotide binding site
Miscellaneous: This protein is produced by a bicistronic gene which also produces the ALEX protein from an
overlapping reading frame
Miscellaneous: The GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and
biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically
derived and the Nesp55 isoforms are maternally derived
Secondary accessions: A6NI00 E1P5G5 P04895 Q12927 Q14433 Q32P26 Q5JWD2 Q5JWD4 Q5JWD5 Q6NR75
Q6NXS0 Q8TBC0 Q96H70
Alternative splicing: 8 isoforms:  P63092-1, P04895-1   P63092-2, P04895-2   P63092-3   Q5JWF2-1   Q5JWF2-2   Q5JWF2-3   O95467-1   P63092-4   
(Gene prediction based on EST data)

UniProtKB/Swiss-Prot: GNAS3_HUMAN, O95467 (See protein sequence)

Recommended Name: Neuroendocrine secretory protein 55 precursor  
Size: 245 amino acids; 28029 Da
Miscellaneous: This protein is produced by a bicistronic gene which also produces the ALEX protein from an
overlapping reading frame
Miscellaneous: The GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and
biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically
derived and the Nesp55 isoforms are maternally derived
Secondary accessions: B2RB88 E1P5G2 O95417
Alternative splicing: 7 isoforms:  O95467-1   Q5JWF2-1   Q5JWF2-2   Q5JWF2-3   P63092-1, P04895-1   P63092-2, P04895-2   P63092-3   P63092-4   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GNAS: NX_O95467

Explore proteomics data for GNAS at MOPED

Post-translational modifications: 

  • Binds keratan sulfate chains (By similarity)1
  • May be proteolytically processed to give rise to a number of active peptides1
  • Glycosylation2 at Ser153, Thr154, Ser158, Thr160, Ser170, Ser174, Ser176, Ser181, Thr182, Ser187
  • Modification sites at PhosphoSitePlus

  • See GNAS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_000507.1  NP_001070956.1  NP_001070957.1  NP_001070958.1  NP_057676.1  NP_536350.2  NP_536351.1  

    ENSEMBL proteins: 
     ENSP00000323571   ENSP00000360139   ENSP00000360115   ENSP00000392000   ENSP00000416234  
     ENSP00000360141   ENSP00000360140   ENSP00000360143   ENSP00000302237   ENSP00000412424  
     ENSP00000265621   ENSP00000412356   ENSP00000474219   ENSP00000360136   ENSP00000360126  
     ENSP00000346328   ENSP00000265620   ENSP00000360122   ENSP00000345971   ENSP00000474802  
     ENSP00000304472  
    Reactome Protein details: P63092

    GNAS Human Recombinant Protein Products:

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    Novus Biologicals GNAS Protein
    Novus Biologicals GNAS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GNAS Antibody Products:

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    Novus Biologicals GNAS Antibodies
    Abcam antibodies for GNAS (P63092, O95467, P84996, Q5JWF2)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for GNAS
    LSBio Antibodies in human, mouse, rat for GNAS

    GNAS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GNAS
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR001019 Gprotein_alpha_su
     IPR000367 Gprotein_alpha_S
     IPR011025 GproteinA_insert
     IPR027417 P-loop_NTPase
     IPR009434 NESP55

    Graphical View of Domain Structure for InterPro Entry P84996
    Graphical View of Domain Structure for InterPro Entry Q5JWF2
    Graphical View of Domain Structure for InterPro Entry P63092
    Graphical View of Domain Structure for InterPro Entry O95467

    ProtoNet protein and cluster: P84996

    1 Blocks protein domain: IPB001901 Protein secE/sec61-gamma protein

    UniProtKB/Swiss-Prot: ALEX_HUMAN, P84996
    Similarity: Belongs to the ALEX family

    UniProtKB/Swiss-Prot: GNAS1_HUMAN, Q5JWF2
    Similarity: Belongs to the G-alpha family. G(s) subfamily

    UniProtKB/Swiss-Prot: GNAS2_HUMAN, P63092
    Similarity: Belongs to the G-alpha family. G(s) subfamily

    UniProtKB/Swiss-Prot: GNAS3_HUMAN, O95467
    Similarity: Belongs to the NESP55 family


    GNAS 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALEX_HUMAN, P84996
    Function: May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit
    alpha which is produced from the same locus in a different open reading frame

         UniProtKB/Swiss-Prot: GNAS1_HUMAN, Q5JWF2
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
    transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase: it
    activates the cyclase in response to beta-adrenergic stimuli. XLas isoforms interact with the same set of
    receptors as Gnas isoforms (By similarity)

         UniProtKB/Swiss-Prot: GNAS2_HUMAN, P63092
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
    transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase: it
    activates the cyclase in response to beta-adrenergic stimuli. Stimulates the Ras signaling pathway via RAPGEF2

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003924GTPase activity TAS9159128
    GO:0004016adenylate cyclase activity TAS--
    GO:0004871signal transducer activity IDA12391161
    GO:0005515protein binding IPI--
         
    GNAS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GNAS:
     Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 19 alleles(MGI details for Gnas) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    GNAS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GNAS: Gnastm1Jop Gnastm1Kel Gnastm2.1Lsw Gnastm3Kel Gnastm4Lsw Gnastm1Gwa
                                                         Gnastm2Kel Gnastm1.2Plag Gnastm1Lsw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNAS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNAS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNAS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNAS

    miRNA
    Products:
        
    miRTarBase miRNAs that target GNAS:
    hsa-mir-320a (MIRT044478), hsa-mir-615-3p (MIRT039683), hsa-mir-324-3p (MIRT042911), hsa-mir-155-5p (MIRT020904), hsa-mir-18a-3p (MIRT040832), hsa-mir-17-5p (MIRT051047), hsa-mir-320b (MIRT036192), hsa-mir-331-3p (MIRT043309), hsa-let-7b-5p (MIRT052019)

    Block miRNA regulation of human, mouse, rat GNAS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GNAS:
    hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidGNAS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GNAS
    Predesigned siRNA for gene silencing in human, mouse, rat GNAS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GNAS

    Clone
    Products:
         
    OriGene clones in human, mouse for GNAS (see all 40)
    OriGene ORF clones in mouse, rat for GNAS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): GNAS (NM_000516)
    Sino Biological Human cDNA Clone for GNAS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAS

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ALEX_HUMAN, P84996: Cell membrane; Peripheral membrane protein. Cell projection, ruffle (By similarity).
    Note=Predominantly associated with cell membrane ruffles (By similarity)
    GNAS1_HUMAN, Q5JWF2: Cell membrane; Peripheral membrane protein (By similarity)
    GNAS2_HUMAN, P63092: Cell membrane; Lipid-anchor (By similarity)
    GNAS3_HUMAN, O95467: Cytoplasmic vesicle, secretory vesicle (By similarity). Secreted (By similarity).
    Note=Neuroendocrine secretory granules (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton3
    cytosol3
    golgi apparatus3
    nucleus3
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol ISS--

    GNAS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GNAS About   (see all 58)  
    See pathways by source

    SuperPathContained pathways About
    1Ca-dependent events
    Beta 2 adrenergic dependent CFTR expression0.50
    Development Role of Activin A in cell differentiation and proliferation0.32
    Neurophysiological process PGE2 induced pain processing0.38
    PKA activation in glucagon signalling0.00
    Development Beta adrenergic receptors signaling via cAMP0.32
    2ADP signalling through P2Y purinoceptor 12
    Prostacyclin signalling through prostacyclin receptor0.79
    Class B/2 (Secretin family receptors)0.36
    Glucagon-type ligand receptors0.61
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.34
    G alpha (z) signalling events0.47
    3Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA signaling0.41
    Inflammatory mediator regulation of TRP channels0.37
    GnRH signaling pathway0.38
    Estrogen signaling pathway0.34
    4Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Glucagon signaling in metabolic regulation0.70
    Aquaporin-mediated transport0.85
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    5G Protein Signaling Pathways
    G Protein Signaling Pathways0.44
    Signal transduction cAMP signaling0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNAS (see all 70)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CDK5 Pathway
    ERK5 Signaling

    Selected GeneGo (Thomson Reuters) Pathways for GNAS (see all 23)
        Development A2A receptor signaling
    Signal transduction cAMP signaling
    Development Endothelin-1/EDNRA signaling
    Transcription PPAR Pathway
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    Selected BioSystems Pathways for GNAS (see all 8)
        Myometrial Relaxation and Contraction Pathways
    Estrogen signaling pathway
    Serotonin Receptor 4/6/7 and NR3C Signaling
    G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell


    Selected Reactome Pathways for GNAS (see all 9)
        Glucagon-type ligand receptors
    PKA activation in glucagon signalling
    Prostacyclin signalling through prostacyclin receptor
    G alpha (z) signalling events
    Glucagon-like Peptide-1 (GLP1) regulates insulin secretion

    4 PharmGKB Pathways for GNAS
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for GNAS) (see all 33):
        Rap1 signaling pathway
    Calcium signaling pathway
    Adrenergic signaling in cardiomyocytes
    Vascular smooth muscle contraction
    Gap junction


    GNAS for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GNAS: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GNAS

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

    Selected Interacting proteins for GNAS (P630921, 2 O954671, 2, 3 Q5JWF21, 2, 3 ENSP000003601414) via UniProtKB, MINT, STRING, and/or I2D (see all 749)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494071, 2EBI-4400880,EBI-743313 MINT-8408816 MINT-8408846 MINT-8408546 MINT-8408681 MINT-8408734
    IQGAP1P469402, ENSP000002681824MINT-7947479 STRING: ENSP00000268182
    SUMO1P631652, ENSP000003760764MINT-7947479 STRING: ENSP00000376076
    CDC5LQ994592, ENSP000003605324MINT-7947479 STRING: ENSP00000360532
    RUVBL1Q9Y2652, ENSP000003182974MINT-7947479 STRING: ENSP00000318297
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 47):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development ----
    GO:0001894tissue homeostasis IEA--
    GO:0001958endochondral ossification IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006171cAMP biosynthetic process TAS--

    GNAS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for GNAS available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GalleinInhibitor of betagamma signaling[2103-64-2]
    Suramin hexasodium saltNon-selective P2 antagonist[129-46-4]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    8-Bromo-cGMP, sodium salt cGMP analog; activates PKG[51116-01-9]
    Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

    5 HMDB Compounds for GNAS    About this table
    CompoundSynonyms CAS #PubMed Ids
    GuanineGUN (see all 26)73-40-5--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    KeratanKerato sulfate (see all 4)69992-87-6--

    2 DrugBank Compounds for GNAS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE-- --target--10592235
    Forskolin-- 64657-11-0target--10592235

    Selected Novoseek inferred chemical compound relationships for GNAS gene (see all 50)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nesp 96 239 11402086 (10), 11308270 (10), 11728981 (10), 10541299 (9) (see all 49)
    pphp 90 31 17803690 (5), 12621129 (3), 15579796 (3), 9876352 (3) (see all 12)
    octreotide 52.3 6 11502816 (1), 10443675 (1), 16402935 (1), 19164866 (1) (see all 6)
    gdp 50.3 19 9727013 (3), 8636123 (2), 11318657 (1), 9478963 (1) (see all 8)
    guanosine 5'-o-(3-thiotriphosphate) 48.2 4 9395396 (1), 9729456 (1), 10102993 (1)
    cyclic amp 48.1 18 11344215 (2), 17161328 (2), 17143315 (1), 9675303 (1) (see all 9)
    gtp 47.3 18 9729456 (2), 17727271 (2), 19189654 (1), 10102993 (1) (see all 10)
    guanine 45.5 10 17143315 (1), 10860717 (1), 7877135 (1), 7719019 (1) (see all 8)
    forskolin 39.7 7 9268376 (2), 9463474 (2), 12831842 (1), 10786926 (1)
    adenylate 39.3 14 9729456 (2), 8940106 (1), 9584831 (1), 11857923 (1) (see all 11)



    GNAS for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for GNAS gene (7 alternative transcripts): 
    NM_000516.4  NM_001077488.2  NM_001077489.2  NM_001077490.1  NM_016592.2  NM_080425.2  NM_080426.2  

    Unigene Cluster for GNAS:

    GNAS complex locus
    Hs.125898  [show with all ESTs]
    Unigene Representative Sequence: NM_001077490
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 57):
    ENST00000313949(uc021wfl.1 uc002xzt.3) ENST00000371098 ENST00000371075
    ENST00000453292 ENST00000419558 ENST00000491348 ENST00000472183 ENST00000462499
    ENST00000482112 ENST00000490374 ENST00000493744 ENST00000467227 ENST00000371100(uc002xzw.3)
    ENST00000371099 ENST00000371102 ENST00000464624(uc002xzv.3) ENST00000306120
    ENST00000481768
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GNAS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GNAS:
    hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidGNAS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GNAS
    Predesigned siRNA for gene silencing in human, mouse, rat GNAS
    Clone
    Products:
         
    OriGene clones in human, mouse for GNAS (see all 40)
    OriGene ORF clones in mouse, rat for GNAS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): GNAS (NM_000516)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAS
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GNAS
    OriGene qSTAR qPCR primer pairs in human, mouse for GNAS
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GNAS
      QuantiTect SYBR Green Assays in human, mouse, rat GNAS
      QuantiFast Probe-based Assays in human, mouse, rat GNAS

    Additional mRNA sequence: 

    AF064092.1 AF088184.1 AF088185.1 AF105253.1 AF493897.1 AF493898.1 AK026564.1 AK054862.1 
    AK093534.1 AK122771.1 AK225818.1 AK314549.1 AK315860.1 AK315874.1 BC002722.2 BC008855.2 
    BC022875.1 BC036081.1 BC066923.1 BC089157.1 BC104928.1 BC108315.1 BT009905.1 M14631.1 
    M77026.1 NR_003259.1 X04408.1 X04409.1 X07036.1 X56009.1 

    Selected DOTS entries (see all 168):

    DT.100735986  DT.95363959  DT.97853731  DT.95364018  DT.91993908  DT.91676972  DT.91709823  DT.100735960 
    DT.99926479  DT.100736021  DT.91836602  DT.100735944  DT.97869232  DT.100735940  DT.100736009  DT.95127091 
    DT.91656457  DT.100735990  DT.87006216  DT.100735989  DT.100735926  DT.99980938  DT.95293429  DT.100735932 

    Selected AceView cDNA sequences (see all 407):

    BM730091 BU069739 BM693274 BU069515 AL538143 BQ270652 BU726171 BQ271212 
    BM692680 BU949422 CD107259 BF526479 BM873341 CB857992 BM873774 BQ787812 
    CA439936 AA687442 BM873504 BM873642 BM508094 W92246 AL542562 BU785347 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GNAS (see all 22)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^
    SP1:              -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -           -           -     -                     
    SP2:                                                                                -     -     -     -     -           -           -     -                     
    SP3:                                                                                                        -           -           -     -                     
    SP4:                                                                                                        -           -     -     -     -                     
    SP5:                                                                                                                                -     -                     

    ExUns: 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b
    SP1:              -     -                                   -                                             
    SP2:              -     -                                   -                                             
    SP3:              -     -                                   -                                             
    SP4:              -     -                                   -                                             
    SP5:              -     -                                   -                                             


    ECgene alternative splicing isoforms for GNAS

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GNAS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAACAAAG
    GNAS Expression
    About this image


    GNAS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
    GNAS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNAS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.125898
        Pathway & Disease-focused RT2 Profiler PCR Array including GNAS: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GNAS
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    QuantiTect SYBR Green Assays in human, mouse, rat GNAS
    QuantiFast Probe-based Assays in human, mouse, rat GNAS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAS

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GNAS gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnas1 , 5 GNAS (guanine nucleotide binding protein, alpha stimulating) more1, 5 84.13(n)1
    78(a)1
      2 (97.89 cM)5
    146831  NM_010309.31  NP_034439.21 
     1742843205 
    chicken
    (Gallus gallus)
    Aves GNAS1 GNAS complex locus 76.87(n)
    92.19(a)
      419313  XM_417485.4  XP_417485.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    many ↔ many
    2(196941050-196942198)
    African clawed frog
    (Xenopus laevis)
    Amphibia X56091.12   -- 80.13(n)    X56091.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gnas1 GNAS complex locus 73.53(n)
    85.09(a)
      557353  XM_005172124.1  XP_005172181.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G-salpha60A1 , 3 G-protein coupled receptor protein
    signaling pathway more3
    G protein salpha 60A1
    70(a)
    (best of 2)3
    64.19(n)1
    74.1(a)1
      60A133
    378051  NM_166640.21  NP_726388.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gsa-11 , 3 guanine nucleotide-binding protein3
    gsa-11
    67(a)3
    64.48(n)1
    68.03(a)1
      I(1068998-1074345)3
    1716871  NM_058416.41  NP_490817.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPA16
    GTP-binding alpha subunit of the heterotrimeric G ...
    25(a)
    1 → many
    VIII(113499-114917) YHR005C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNAS gene
    GNAL2  
    18 SIMAP similar genes for GNAS using alignment to 16 protein entries:     ALEX_HUMAN (see all proteins):
    GSA    GNAL    GNAT2    GNAT3    GNA11    GNAT1
    GNAQ    GNAO1    GNA14    GNA13    GNAI2    GNAI3
    GNAI1    GNA12    GNAZ    GNA15    DKFZp686O0962    WUGSC

    GNAS for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GNAS
    PGOHUM00000242283


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GNAS (see all 1351)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617496981,2,,4
    CGNAS hyperfunction (GNASHYP)4 --57429627(+) CCCTGA/CCGCCC 5 D A T P mis1 int10--------
    rs1480335921,2,,4
    CGNAS hyperfunction (GNASHYP)4 --57429696(+) GGCCCC/GTGACG 5 P R L V mis1 int10--------
    rs115542731,2,,4
    CMcCune-Albright syndrome (MAS)4 other157484420(+) GCTGCA/C/G/
            
    GTGTC
    29 S R G C mis1 ut312NA 4
    VAR_0178494
    Albright hereditary osteodystrophy (AHO)4--see VAR_0178492 S R mis40--------
    VAR_0034394
    Albright hereditary osteodystrophy (AHO)4--see VAR_0034392 L P mis40--------
    VAR_0178484
    Albright hereditary osteodystrophy (AHO)4--see VAR_0178482 R H mis40--------
    VAR_0178504
    Albright hereditary osteodystrophy (AHO)4--see VAR_0178502 A S mis40--------
    VAR_0153884
    Albright hereditary osteodystrophy (AHO)4--see VAR_0153882 R W mis40--------
    VAR_0178444
    McCune-Albright syndrome (MAS)4--see VAR_0178442 R G mis40--------
    VAR_0318814
    Pseudohypoparathyroidism 1A (PHP1A)4--see VAR_0318812 K N mis40--------

    HapMap Linkage Disequilibrium report for GNAS (57414773 - 57486250 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GNAS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv459032CNV Loss19166990
    esv27992CNV Loss19812545
    nsv828763CNV Loss20364138
    nsv459031CNV Loss19166990
    nsv912963CNV Gain21882294

    Human Gene Mutation Database (HGMD): GNAS
    Locus Specific Mutation Databases (LSDB): GNAS

    Selected Site Specific Mutation Identification with PCR Assays for GNAS (see all 6):
    Cosmic IdAA Change
    27888p.Q227L
    27887p.R201C
    27899p.R201S
    27896p.Q227R
    27895p.R201H
    Selected Site Specific Cancer Mutation PCR Panels containing GNAS (see all 7):
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Oncogene and Tumor Suppressor Panel 384HT
    Lung and Colon Cancers (Expanded Panel) 384HT
    Thyroid Cancer
    Ovarian Cancer
    2 Copy Number PCR Panels containing GNAS:
    Oncogenes & Tumor Suppressor Genes 384HC
    Ovarian Cancer
    SeqTarget long-range PCR primers for resequencing GNAS
    DNA2.0 Custom Variant and Variant Library Synthesis for GNAS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 139320   
    OMIM disorders: 103580  174800  612462  166350  603233  102200  612463  219080  
    UniProtKB/Swiss-Prot: GNAS3_HUMAN, O95467
  • GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related
    bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the
    ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded
    activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect
    characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive
    production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome
    include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension,
    diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to
    parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects
    characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides
    resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most
    affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16
    appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have
    also been observed
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from
    the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with
    progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon
    and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease
    may be caused by mutations affecting the gene represented in this entry
  • GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related
    bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the
    ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded
    activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect
    characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive
    production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome
    include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension,
    diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to
    parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects
    characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides
    resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most
    affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16
    appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have
    also been observed
  • Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to
    parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary
    osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic
    calcification. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Albright hereditary osteodystrophy (AHO) [MIM:103580]: A disorder characterized by short stature,
    obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with
    pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]: A disorder characterized by end-organ resistance to
    parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary
    osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic
    calcification. Note=The disease is caused by mutations affecting the gene represented in this entry
  • McCune-Albright syndrome (MAS) [MIM:174800]: Characterized by polyostotic fibrous dysplasia, cafe-au-lait
    lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism,
    growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS
    alpha. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]: Pituitary adenomas include
    somatotropinoma and prolactinoma. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Progressive osseous heteroplasia (POH) [MIM:166350]: Rare autosomal dominant disorder characterized by
    extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of
    skeletal muscle and deep connective tissue. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect
    characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive
    production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome
    include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension,
    diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to
    parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects
    characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides
    resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most
    affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16
    appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have
    also been observed
  • GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related
    bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the
    ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded
    activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to
    parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary
    osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic
    calcification. Note=The disease is caused by mutations affecting the gene represented in this entry
  • ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect
    characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive
    production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome
    include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension,
    diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to
    parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects
    characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides
    resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most
    affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16
    appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have
    also been observed
  • GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related
    bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the
    ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded
    activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for GNAS (see all 138):    
    About MalaCards
    pseudohypoparathyroidism    prolonged bleeding time, brachydactyly and mental retardation    osteofibrous dysplasia    monostotic fibrous dysplasia
    pseudohypoparathyroidism type 1b    sagliker syndrome    mccune albright syndrome    osseus heteroplasia, progressive
    pseudopseudohypoparathyroidism    acromegaly    pseudohypoparathyroidism type 1c    mazabraud syndrome
    pituitary gland disease    acth-independent macronodular adrenal hyperplasia    fibrous dysplasia    albright's hereditary osteodystrophy
    gnas hyperfunction    progressive osseous heteroplasia    pituitary tumors    ossifying fibroma

    9 diseases from the University of Copenhagen DISEASES database for GNAS:
    Pseudohypoparathyroidism     McCune Albright syndrome     Fibrous dysplasia     Brachydactyly
    Adenoma     Hyperphosphatemia     Carney complex     Acrodysostosis
    Acromegaly

    GNAS for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GNAS gene (see all 91)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoparathyroidism 96 60 17299070 (4), 18394017 (3), 9876352 (3), 11788646 (2) (see all 39)
    pseudohypoparathyroidism, type ib 91.5 25 15800843 (2), 11588148 (2), 12970307 (2), 12619926 (2) (see all 13)
    fibrous dysplasia polyostotic 89.4 6 15183415 (1), 12756386 (1), 17982384 (1), 10646121 (1)
    osteoma cutis 87.8 15 14723729 (4), 20480732 (2), 12024004 (1), 11092391 (1) (see all 9)
    tsh resistance 87.8 5 12970307 (2)
    fibrous dysplasia 87.6 50 16264125 (5), 11272890 (4), 19575869 (3), 15183415 (2) (see all 31)
    pseudo-pseudohypoparathyroidism 78.7 3 11294659 (1), 12624854 (1), 17321228 (1)
    pituitary adenoma 78 50 11182759 (4), 19029774 (4), 14616888 (3), 18070145 (3) (see all 22)
    toxic adenoma 77.8 12 9867188 (3), 15181091 (2), 8768829 (1), 18694911 (1) (see all 9)
    hyperfunction 77.5 3 17566083 (1), 11297617 (1), 12719376 (1)

    Genetic Association Database (GAD): GNAS
    Human Genome Epidemiology (HuGE) Navigator: GNAS (60 documents)

    Export disorders for GNAS 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)
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    PubMed articles for GNAS gene, integrated from 10 sources (see all 679):
    (articles sorted by number of sources associating them with GNAS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. (PubMed id 10729789)1, 2, 9 Weiss U....Fischer-Colbrie R. (Neuroendocrinology 2000)
    2. An imprinted antisense transcript at the human GNAS1 locus. (PubMed id 10749992)1, 2, 9 Hayward B.E. and Bonthron D.T. (Hum. Mol. Genet. 2000)
    3. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. (PubMed id 12621129)1, 4, 9 De Sanctis L....Dianzani I. (Pediatr. Res. 2003)
    4. Bidirectional imprinting of a single gene: human GNAS1 encodes distinct maternally, paternally and biallelically derived proteins. (PubMed id 9860993)1, 2, 9 Hayward B.E.... Bonthron D.T. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    5. Mutations of GNAS and TSHR genes in subclinical toxic multinodular goiter. (PubMed id 20336923)1, 4, 9 Liu C....Zhou M. (Ann. Otol. Rhinol. Laryngol. 2010)
    6. GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma. (PubMed id 19287459)1, 4, 9 Delaney D....Flanagan A.M. (Mod. Pathol. 2009)
    7. Prevalence of TSH receptor and Gsalpha mutations in 45 autonomously functioning thyroid nodules in Japan. (PubMed id 19550078)1, 4, 9 Nishihara E....Miyauchi A. (Endocr. J. 2009)
    8. [Abnormal expression of c-myc, p53, p16 protein and GNAS1 gene mutation in fibrous dysplasia]. (PubMed id 19575869)1, 4, 9 Tang J....Jiang Z.M. (Zhonghua Bing Li Xue Za Zhi 2009)
    9. United detection GNAS and TSHR mutations in subclinical toxic multinodular goiter. (PubMed id 19826830)1, 4, 9 Liu C....Zhou M. (Eur Arch Otorhinolaryngol 2010)
    10. Genetic insight into syncopal tilted population with severe clinical presentation. (PubMed id 19243996)1, 4, 9 Lelonek M....Goch J.H. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 2778 HGNC: 4392 AceView: GNAS.1 Ensembl:ENSG00000087460 euGenes: HUgn2778
    ECgene: GNAS Kegg: 2778 H-InvDB: GNAS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GNAS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GNAS Genetics and Cytogenetics in Oncology and Haematology
    GNAS mutation dbhttp://www.le.ac.uk/genetics/maa7/GNAS1/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GNAS[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GNAS gene:
    Search GeneIP for patents involving GNAS

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



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