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Aliases for GNAS Gene

Aliases for GNAS Gene

  • GNAS Complex Locus 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity Polypeptide 1 2 3
  • Adenylate Cyclase-Stimulating G Alpha Protein 3 4
  • Alternative Gene Product Encoded By XL-Exon 3 4
  • Extra Large Alphas Protein 3 4
  • Secretogranin VI 2 3
  • GNAS1 3 4
  • GSP 3 4
  • Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas 3
  • Guanine Nucleotide Regulatory Protein 3
  • Neuroendocrine Secretory Protein 3
  • C20orf45 3
  • XLalphas 4
  • NESP55 4
  • GPSA 3
  • NESP 3
  • SCG6 3
  • SgVI 3
  • AHO 3
  • GSA 3
  • POH 3

External Ids for GNAS Gene

Previous HGNC Symbols for GNAS Gene

  • GNAS1

Previous GeneCards Identifiers for GNAS Gene

  • GC20P057143
  • GC20P057103
  • GC20P058053
  • GC20P058101
  • GC20P058102
  • GC20P056848
  • GC20P057414
  • GC20P054201

Summaries for GNAS Gene

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 albright's hereditary osteodystrophy. Among its related pathways are Signaling by GPCR and GPCR Pathway. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAL.

UniProtKB/Swiss-Prot for GNAS Gene

  • 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.

  • Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).

  • Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).

Tocris 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 binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAS Gene

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

Genomics for GNAS Gene

Regulatory Elements for GNAS Gene

Transcription factor binding sites by QIAGEN in the GNAS gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GNAS Gene

Chromosome:
20
Start:
58,839,718 bp from pter
End:
58,911,195 bp from pter
Size:
71,478 bases
Orientation:
Plus strand

Genomic View for GNAS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAS Gene

Proteins for GNAS Gene

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

    Protein Symbol:
    O95467-GNAS3_HUMAN
    Recommended name:
    Neuroendocrine secretory protein 55
    Protein Accession:
    O95467
    Secondary Accessions:
    • B2RB88
    • E1P5G2
    • O95417

    Protein attributes for GNAS Gene

    Size:
    245 amino acids
    Molecular mass:
    28029 Da
    Quaternary structure:
    No Data Available
    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
    • This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.

    Alternative splice isoforms for GNAS Gene

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

    Protein Symbol:
    P63092-GNAS2_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
    Protein Accession:
    P63092
    Secondary Accessions:
    • A6NI00
    • E1P5G5
    • P04895
    • Q12927
    • Q14433
    • Q32P26
    • Q5JWD2
    • Q5JWD4
    • Q5JWD5
    • Q6NR75
    • Q6NXS0
    • Q8TBC0
    • Q96H70

    Protein attributes for GNAS Gene

    Size:
    394 amino acids
    Molecular mass:
    45665 Da
    Quaternary structure:
    • Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with CRY1; the interaction may block GPCR-mediated regulation of cAMP concentrations (PubMed:20852621). Interacts with ADCY5 and stimulates its adenylyl cyclase activity (PubMed:17110384, PubMed:26206488). Interacts with ADCY6 and stimulates its adenylyl cyclase activity (PubMed:17110384). Interacts with ADCY2 (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
    • This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame

    Alternative splice isoforms for GNAS Gene

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

    Protein Symbol:
    P84996-ALEX_HUMAN
    Recommended name:
    Protein ALEX
    Protein Accession:
    P84996
    Secondary Accessions:
    • A2A2S4

    Protein attributes for GNAS Gene

    Size:
    626 amino acids
    Molecular mass:
    67948 Da
    Quaternary structure:
    • Interacts with the N-terminal region of the XLas isoforms of guanine nucleotide-binding protein G(s) subunit alpha.
    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.
  • Protein details for GNAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JWF2-GNAS1_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
    Protein Accession:
    Q5JWF2
    Secondary Accessions:
    • A2A2S3
    • E1P5G3
    • O75684
    • O75685
    • Q5JW67
    • Q5JWF1
    • Q9NY42

    Protein attributes for GNAS Gene

    Size:
    1037 amino acids
    Molecular mass:
    111025 Da
    Quaternary structure:
    • 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:
    • 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
    • This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
    SequenceCaution:
    • Sequence=CAB83215.1; Type=Frameshift; Positions=40; Evidence={ECO:0000305}; Sequence=CAM28315.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for GNAS Gene

neXtProt entry for GNAS Gene

Proteomics data for GNAS Gene at MOPED

Post-translational modifications for GNAS Gene

No data available for DME Specific Peptides for GNAS Gene

Domains & Families for GNAS Gene

Gene Families for GNAS Gene

Graphical View of Domain Structure for InterPro Entry

P84996

UniProtKB/Swiss-Prot:

GNAS1_HUMAN :
  • Belongs to the ALEX family.
Family:
  • Belongs to the ALEX family.
  • Belongs to the G-alpha family. G(s) subfamily.
  • Belongs to the NESP55 family.
genes like me logo Genes that share domains with GNAS: view

Function for GNAS Gene

Molecular function for GNAS Gene

UniProtKB/Swiss-Prot 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 Function:
Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).

Gene Ontology (GO) - Molecular Function for GNAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003924 GTPase activity TAS 9159128
GO:0004016 adenylate cyclase activity TAS --
GO:0004871 signal transducer activity IDA 12391161
GO:0005159 insulin-like growth factor receptor binding IBA --
genes like me logo Genes that share ontologies with GNAS: view
genes like me logo Genes that share phenotypes with GNAS: view

Animal Models for GNAS Gene

MGI Knock Outs for GNAS:

Animal Model Products

miRNA for GNAS Gene

miRTarBase miRNAs that target GNAS

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAS Gene

Localization for GNAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAS Gene

Cytoplasmic vesicle, secretory vesicle. Secreted. Note=Neuroendocrine secretory granules. {ECO:0000250}.
Cell membrane; Lipid-anchor.
Cell membrane; Peripheral membrane protein. Cell projection, ruffle. Note=Predominantly associated with cell membrane ruffles. {ECO:0000250}.
Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNAS Gene COMPARTMENTS Subcellular localization image for GNAS gene
Compartment Confidence
cytosol 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GNAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA 20862257
GO:0005737 cytoplasm IDA 20862257
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with GNAS: view

Pathways & Interactions for GNAS Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • G-Protein-Coupled Receptor Signaling PathwayFinder in human,mouse,rat

SIGNOR curated interactions for GNAS Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development --
GO:0001894 tissue homeostasis IEA --
GO:0001958 endochondral ossification IEA --
GO:0003091 renal water homeostasis TAS --
GO:0006112 energy reserve metabolic process TAS --
genes like me logo Genes that share ontologies with GNAS: view

Drugs & Compounds for GNAS Gene

(34) Drugs for GNAS Gene - From: NovoSeek, HMDB, DrugBank, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dobutamine Approved Pharma Partial agonist, Agonist 99
Desipramine Approved Pharma 39
Dopamine Approved Pharma Full agonist, Agonist 2814
Fluoxetine Approved Pharma Inhibition, Inhibitor 217
Iloprost Approved, Investigational Pharma Full agonist, Agonist Others, Prostacyclin (PGI2) analog 73

(27) Additional Compounds for GNAS Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
69992-87-6
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
mastoparan
72093-21-1
Mastoparan X
72093-22-2
genes like me logo Genes that share compounds with GNAS: view

Transcripts for GNAS Gene

Unigene Clusters for GNAS Gene

GNAS complex locus:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GNAS

Flow Cytometry Products

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

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: - -
SP6:
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - -
SP9: - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - - - - - -
SP14:
SP15: - - - - - - - - - - - - -
SP16: - -
SP17:
SP18: - - - - - - - - - - - - - -
SP19:
SP20: - - - - - - -
SP21: - - - -
SP22:

ExUns: 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - -
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for GNAS Gene

GeneLoc Exon Structure for
GNAS
ECgene alternative splicing isoforms for
GNAS

Expression for GNAS Gene

mRNA expression in normal human tissues for GNAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNAS Gene

This gene is overexpressed in Pituitary (x4.2).

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



SOURCE GeneReport for Unigene cluster for GNAS Gene Hs.125898

genes like me logo Genes that share expression patterns with GNAS: view

Protein tissue co-expression partners for GNAS Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GNAS Gene

Orthologs for GNAS Gene

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

Orthologs for GNAS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GNAS 35
  • 92.27 (n)
  • 94.79 (a)
GNAS 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAS 35
  • 92.88 (n)
  • 95.05 (a)
GNAS 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnas 35
  • 84.13 (n)
  • 78 (a)
Gnas 16
Gnas 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNAS 35
  • 99.24 (n)
  • 99.43 (a)
GNAS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnas 35
  • 83.9 (n)
  • 78.11 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
ManyToMany
-- 36
  • 48 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GNAS 35
  • 76.87 (n)
  • 92.19 (a)
-- 36
  • 88 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gnas 35
  • 76.6 (n)
  • 86.72 (a)
Str.5971 35
zebrafish
(Danio rerio)
Actinopterygii gnas 35
  • 73.53 (n)
  • 85.09 (a)
BX569798.1 36
  • 30 (a)
ManyToMany
gna15.4 36
  • 31 (a)
ManyToMany
gnal 36
  • 76 (a)
ManyToMany
si:ch211-207c7.2 36
  • 37 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta G-salpha60A 37
  • 70 (a)
Galpha73B 37
  • 38 (a)
G-salpha60A 35
  • 64.19 (n)
  • 74.1 (a)
G-salpha60A 36
  • 70 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GNAS_ANOGA 35
  • 63.96 (n)
  • 74.61 (a)
worm
(Caenorhabditis elegans)
Secernentea gsa-1 37
  • 67 (a)
gsa-1 35
  • 64.48 (n)
  • 68.03 (a)
gsa-1 36
  • 67 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1818 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for GNAS:
  • 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)
  • 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 GNAS Gene

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

Paralogs for GNAS Gene

Paralogs for GNAS Gene

Pseudogenes.org Pseudogenes for GNAS Gene

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

Variants for GNAS Gene

Sequence variations from dbSNP and Humsavar for GNAS Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs7121 -- 58,903,752(+) TACAT(C/T)CTGAG reference, synonymous-codon, utr-variant-3-prime, nc-transcript-variant
rs8386 -- 58,910,757(+) GAGAA(C/T)ATCCG reference, synonymous-codon, utr-variant-3-prime, nc-transcript-variant
rs8620 -- 58,909,186(+) GTGAT(C/T)AAGCA reference, synonymous-codon, utr-variant-3-prime, nc-transcript-variant
rs8986 -, - 58,910,783(+) CTGCC(G/T)TGACA reference, missense, utr-variant-3-prime, nc-transcript-variant
rs13831 -- 58,900,136(-) TCAGT(C/T)CATTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv912963 CNV Gain 21882294
nsv828763 CNV Loss 20364138
nsv459031 CNV Loss 19166990
nsv459032 CNV Loss 19166990
esv27992 CNV Loss 19812545

Variation tolerance for GNAS Gene

Residual Variation Intolerance Score: 71.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.64; 56.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAS Gene

HapMap Linkage Disequilibrium report
GNAS
Human Gene Mutation Database (HGMD)
GNAS

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

Disorders for GNAS Gene

MalaCards: The human disease database

(64) MalaCards diseases for GNAS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
pseudohypoparathyroidism
  • pseudohypoparathyroidism, type ia
albright's hereditary osteodystrophy
  • pseudohypoparathyroidism type 1a
pseudopseudohypoparathyroidism
  • normocalcemic pseudohypoparathyroidism [ambiguous]
acth-independent macronodular adrenal hyperplasia
  • acth-independent macronodular adrenocortical hyperplasia
pseudohypoparathyroidism ia
  • albright hereditary osteodystrophy
- elite association
Search GNAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAS1_HUMAN
  • ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [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. {ECO:0000269 PubMed:12727968}. 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. {ECO:0000269 PubMed:11450852, ECO:0000269 PubMed:11600516, ECO:0000269 PubMed:12624854, ECO:0000269 PubMed:15817905, ECO:0000269 PubMed:7523385, ECO:0000269 PubMed:8388883, ECO:0000269 PubMed:9328353, ECO:0000269 PubMed:9727013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:12719376}. Note=The disease is 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. {ECO:0000269 PubMed:11583302, ECO:0000269 PubMed:12719376}. Note=The disease is 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.
  • 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. {ECO:0000269 PubMed:10571700, ECO:0000269 PubMed:1594625, ECO:0000269 PubMed:1944469, ECO:0000269 PubMed:7751320}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pituitary adenoma, growth hormone-secreting, 1 (PAGH1) [MIM:102200]: A growth hormone-secreting, benign neoplasm of the anterior pituitary gland, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature. 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. {ECO:0000269 PubMed:14723729}. 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. {ECO:0000269 PubMed:11788646, ECO:0000269 PubMed:11926205, ECO:0000269 PubMed:12656668}. 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. {ECO:0000269 PubMed:11029463, ECO:0000269 PubMed:11067869, ECO:0000269 PubMed:11294659, ECO:0000269 PubMed:12858292, ECO:0000269 PubMed:14561710, ECO:0000269 PubMed:15592469, ECO:0000269 PubMed:15800843}. 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. {ECO:0000269 PubMed:11788646}. 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. {ECO:0000269 PubMed:21488135}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNAS

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

No data available for Genatlas for GNAS Gene

Publications for GNAS Gene

  1. Unusual phenotypical variations in a boy with McCune-Albright syndrome. (PMID: 20197676) Mamkin I. … Sultan C. (Horm Res Paediatr 2010) 23 67
  2. Absence of activating mutations of CXCR4 in pituitary tumours. (PMID: 19473177) Lee Y.H. … Lee E.J. (Clin. Endocrinol. (Oxf) 2010) 23 67
  3. Optimal hematocrit for maximal exercise performance in acute and chronic erythropoietin-treated mice. (PMID: 19966291) Schuler B. … Gassmann M. (Proc. Natl. Acad. Sci. U.S.A. 2010) 23 67
  4. Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. (PMID: 19658058) Thiele S. … Hiort O. (Exp. Clin. Endocrinol. Diabetes 2010) 23 67
  5. Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha). (PMID: 19423757) Aydin C. … Bastepe M. (Endocrinology 2009) 23 67

Products for GNAS Gene

Sources for GNAS Gene

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