Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GNAS Gene

Aliases for GNAS Gene

  • GNAS Complex Locus 2 3
  • GNAS1 3 4 6
  • 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
  • PHP1A 3 6
  • PHP1B 3 6
  • PHP1C 3 6
  • GPSA 3 6
  • GSP 3 4
  • AHO 3 6
  • POH 3 6
  • Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas 3
  • Guanine Nucleotide Regulatory Protein 3
  • Neuroendocrine Secretory Protein 3
  • Protein ALEX 3
  • C20orf45 3
  • XLalphas 4
  • NESP55 4
  • NESP 3
  • SgVI 3
  • GSA 3

External Ids for GNAS Gene

Previous Symbols for GNAS Gene

  • GNAS1

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 gnas hyperfunction and monostotic fibrous dysplasia. Among its related pathways are GPCR Pathway and Ras signaling pathway. GO annotations related to this gene include GTP binding and GTPase 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) 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).

  • 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.

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-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 Gene

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

Genomics for GNAS Gene

Genomic Location for GNAS Gene

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

Regulatory Elements for GNAS Gene

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

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:
    • 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.
    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

  • Binds keratan sulfate chains.
  • May be proteolytically processed to give rise to a number of active peptides.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser153, Thr154, Ser158, Thr160, Ser170, Ser174, Ser176, Ser181, Thr182, and Ser187
  • Ubiquitination at Lys8, Lys53, Lys58, Lys91, Lys96, Lys181, Lys186, Lys211, Lys216, Lys274, Lys293, Lys300, Lys305, Lys307, Lys338, and Lys73
  • Modification sites at neXtProt
  • Ubiquitination at Lys696, Lys701, Lys734, Lys739, Lys824, Lys829, Lys854, Lys859, Lys917, Lys936, Lys943, Lys948, Lys950, and Lys981

No data available for DME Specific Peptides for GNAS Gene

Domains for GNAS Gene

UniProtKB/Swiss-Prot:

GNAS1_HUMAN
Family:
  • Belongs to the ALEX family.:
    • P84996
  • Belongs to the G-alpha family. G(s) subfamily.:
    • Q5JWF2
    • P63092
  • Belongs to the NESP55 family.:
    • O95467
genes like me logo Genes that share domains with GNAS: view

No data available for Gene Families for GNAS Gene

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) 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 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) - 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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
extracellular 5
plasma membrane 5
cytoskeleton 3
cytosol 3
golgi apparatus 3
nucleus 3
peroxisome 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 for GNAS Gene

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

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

Compounds for GNAS Gene

(5) Tocris Compounds for GNAS Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG [51116-01-9]
Gallein Inhibitor of betagamma signaling [2103-64-2]
G-Protein antagonist peptide Inhibits G protein activation by GPCRs [143675-79-0]
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]
Suramin hexasodium salt Non-selective P2 antagonist [129-46-4]

(5) HMDB Compounds for GNAS Gene

Compound Synonyms Cas Number PubMed IDs
Guanine
  • GUN
73-40-5
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
Keratan
  • Kerato sulfate
69992-87-6

(2) Drugbank Compounds for GNAS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE
target
Forskolin
64657-11-0 target

(50) Novoseek inferred chemical compound relationships for GNAS Gene

Compound -log(P) Hits PubMed IDs
nesp 96 180
pphp 90 25
octreotide 52.3 6
gdp 50.3 11
guanosine 5-o-(3-thiotriphosphate) 48.2 3

(1) PharmGKB related drug/compound annotations for GNAS Gene

Drug/compound Annotation
dobutamine CA
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:

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 (4.2).

Integrated Proteomics: protein expression 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 expressions with GNAS: view

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
chimpanzee
(Pan troglodytes)
Mammalia GNAS 36
  • 99.24 (n)
  • 99.43 (a)
GNAS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNAS 36
  • 92.27 (n)
  • 94.79 (a)
GNAS 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAS 36
  • 92.88 (n)
  • 95.05 (a)
GNAS 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnas 36
  • 84.13 (n)
  • 78 (a)
Gnas 16
Gnas 37
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 84 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 44 (a)
ManyToMany
-- 37
  • 48 (a)
ManyToMany
-- 37
  • 43 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Gnas 36
  • 83.9 (n)
  • 78.11 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 88 (a)
ManyToMany
GNAS 36
  • 76.87 (n)
  • 92.19 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 59 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gnas 36
  • 76.6 (n)
  • 86.72 (a)
Str.5971 36
zebrafish
(Danio rerio)
Actinopterygii BX569798.1 37
  • 30 (a)
ManyToMany
gna15.4 37
  • 31 (a)
ManyToMany
gnal 37
  • 76 (a)
ManyToMany
gnas 36
  • 73.53 (n)
  • 85.09 (a)
si:ch211-207c7.2 37
  • 37 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GNAS_ANOGA 36
  • 63.96 (n)
  • 74.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta G-salpha60A 36
  • 64.19 (n)
  • 74.1 (a)
G-salpha60A 37
  • 70 (a)
OneToMany
Galpha73B 38
  • 38 (a)
G-salpha60A 38
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea gsa-1 36
  • 64.48 (n)
  • 68.03 (a)
gsa-1 37
  • 67 (a)
OneToMany
gsa-1 38
  • 67 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA1 37
  • 25 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1818 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Relevant External Links for GNAS Gene

HapMap Linkage Disequilibrium report
GNAS
Human Gene Mutation Database (HGMD)
GNAS
Locus Specific Mutation Databases (LSDB)
GNAS

Disorders for GNAS Gene

(8) OMIM Diseases for GNAS Gene (139320)

UniProtKB/Swiss-Prot

GNAS1_HUMAN
  • 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.
  • 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.
  • 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.
  • 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:11583302, ECO:0000269 PubMed:12719376}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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. {ECO:0000269 PubMed:21488135}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.
  • 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.

(91) Novoseek inferred disease relationships for GNAS Gene

Disease -log(P) Hits PubMed IDs
pseudohypoparathyroidism 96 53
pseudohypoparathyroidism, type ib 91.5 18
fibrous dysplasia polyostotic 89.4 4
osteoma cutis 87.8 13
tsh resistance 87.8 2

Relevant External Links for GNAS

Genetic Association Database (GAD)
GNAS
Human Genome Epidemiology (HuGE) Navigator
GNAS
genes like me logo Genes that share disorders with GNAS: view

Publications for GNAS Gene

  1. Bidirectional imprinting of a single gene: human GNAS1 encodes distinct maternally, paternally and biallelically derived proteins. (PMID: 9860993) Hayward B.E. … Bonthron D.T. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  2. An imprinted antisense transcript at the human GNAS1 locus. (PMID: 10749992) Hayward B.E. … Bonthron D.T. (Hum. Mol. Genet. 2000) 3 4 23
  3. Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. (PMID: 10729789) Weiss U. … Fischer-Colbrie R. (Neuroendocrinology 2000) 3 4 23
  4. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. (PMID: 12621129) De Sanctis L. … Dianzani I. (Pediatr. Res. 2003) 3 23 49
  5. Genetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders. (PMID: 15147378) GonzA!lez-Conejero R. … Vicente V. (Br. J. Haematol. 2004) 3 23 49

Products for GNAS Gene

Sources for GNAS Gene

Back to Top

Content