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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
GNAS 2778 GNAS complex locus  20NESP55, NESP, GNASXL, GPSA, SCG6 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
24498230   2014Cell line : -

Source : Colon Epithelial Tissue Bank

Sample Type : CRC Tumor

No. of Sample : 428

Stage : Stage I,II,III,IV

MSI analysis,Pyrosequencing, Sanger SequencingMutation-GNAS mutant colon tumors commonly have synchronous mutations in KRAS or BRAF, are right-sided in location, and are associated with a villous morphology.

25683705   2015Cell line : -

Source : -

Sample Type : CRC Tumor

No. of Sample : 311

Stage : -

PCRMutation-GNAS mutations in CRC correlated with a mucinous phenotype and were present in 20% of all mucinous adenocarcinomas evaluated in this study.genotyped 311 colorectal carcinomas (CRCs) for 471 mutation hot spots in 41 cancer-associated genes.


Gene Details



NC_000020.10 (57414756..57486250)

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Gene Type protein coding
Gene Family -
Description 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]  
Chromosome 20
Location 20q13.2-q1
Start 57414756  
End 57486250  
Strand +  
Gene Sequence

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Length 71495  
OMIM ID 139320   
HGNC ID HGNC:4392   
Unigene ID Hs.125898   
Ensembl ID ENSG00000087460   
PharmGKB ID PA175   

mRNA Information


mRNA ID NM_016592.3
Exon join(1..1147,55873..55945,59202..59246,63789..63846, 63933..64052,65644..65741,69423..69477,69611..69684, 69782..69840,69945..70065,70212..70342,70595..70662, 70944..71456)  
mRNA Sequence

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Length 2603  



CDS Information


   
Location390..1127
CDS Sequence

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CCDS ID CCDS13471.1



Protein Information


      
Protein IDNP_057676.1
Protein Name27898
Molecular Wt. (Da)245
Protein Sequence

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Length 0  
Uniprot IDQ9UBS0
Ensembl Protein ID ENSP00000308413  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation995
SPhosphorylation352
SPhosphorylation338
SPhosphorylation353
SPhosphorylation337
SPhosphorylation992
SPhosphorylation349
SPhosphorylation335
SPhosphorylation350
SPhosphorylation334

Enzyme Information


No matching records could be found.

PPi Information


No STRING Network could be found.

                                                                           
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
108ADCY252NP_065433.2in vitro9268375   
134ADORA142NP_000665.1in vivo10521440   
155ADRB3188NP_000016.1in vivo8011597   
2642GCGR678NP_000151.1in vivo1908089   
2792GNGT11805NP_068774.1in vitro15368366   


Pathway Information


                                                                                                                                                                                                                                                
Pathway Name Pathway ID
Adrenergic signaling in cardiomyocytes hsa04261
Alcoholism hsa05034
Aldosterone synthesis and secretion hsa04925
Amoebiasis hsa05146
Amphetamine addiction hsa05031
Bile secretion hsa04976
Calcium signaling pathway hsa04020
cAMP signaling pathway hsa04024
Chagas disease (American trypanosomiasis) hsa05142
Circadian entrainment hsa04713
Cocaine addiction hsa05030
Dilated cardiomyopathy hsa05414
Dopaminergic synapse hsa04728
Endocrine and other factor-regulated calcium reabsorption hsa04961
Estrogen signaling pathway hsa04915
Gap junction hsa04540
Gastric acid secretion hsa04971
Glucagon signaling pathway hsa04922
Glutamatergic synapse hsa04724
GnRH signaling pathway hsa04912
Inflammatory mediator regulation of TRP channels hsa04750
Insulin secretion hsa04911
Long-term depression hsa04730
Melanogenesis hsa04916
Morphine addiction hsa05032
Ovarian steroidogenesis hsa04913
Oxytocin signaling pathway hsa04921
Pancreatic secretion hsa04972
Pathways in cancer hsa05200
Phospholipase D signaling pathway hsa04072
Platelet activation hsa04611
Rap1 signaling pathway hsa04015
Regulation of lipolysis in adipocytes hsa04923
Renin secretion hsa04924
Salivary secretion hsa04970
Serotonergic synapse hsa04726
Thyroid hormone synthesis hsa04918
Vascular smooth muscle contraction hsa04270
Vasopressin-regulated water reabsorption hsa04962
Vibrio cholerae infection hsa05110


Structure Information


No matching records could be found.

Domain Information




ID Location Description
pfam063901-245  NESP55
cd0006641-388  G-alpha
cl2145541-388  P-loop_NTPase superfamily
cd00878204-298  Arf_Arl
pfam00025213-296  Arf
cd04160213-296  Arfrp1
cd04149217-296  Arf6
cd04156216-296  ARLTS1
cd04150212-296  Arf1_5_like
cd04161204-314  Arl2l1_Arl13_like
cd04155205-297  Arl3
smart00177213-296  ARF
PLN00223217-296  PLN00223
cd04157202-296  Arl6
cd00879216-296  Sar1
cd00882213-301  Ras_like_GTPase
cd04153212-296  Arl5_Arl8
PTZ00133217-296  PTZ00133
cd04154212-296  Arl2
cd04151217-296  Arl1
pfam08477213-295  Miro
cd04158195-296  ARD1
cd04159211-296  Arl10_like
COG2229214-296  Srp102
cd04152217-303  Arl4_Arl7
smart0027520-391  G_alpha
pfam0050340-383  G-alpha
TIGR00231209-317  small_GTP
smart00178214-295  SAR
COG1100215-301  Gem1
pfam10846177-364  DUF2722
cl12432177-364  DUF2722 superfamily
PHA03247125-345  PHA03247
PHA03247187-471  PHA03247
PHA03247207-572  PHA03247
PTZ00449177-357  PTZ00449
pfam04484178-261  DUF566
pfam09770186-405  PAT1
pfam09770266-493  PAT1
PRK10263213-389  PRK10263
PTZ00449252-405  PTZ00449
PRK14086188-363  dnaA
PRK12323148-396  PRK12323
cd00066684-1031  G-alpha
cl21455684-1031  P-loop_NTPase superfamily
cd00878847-941  Arf_Arl
pfam00025856-939  Arf
cd04160856-939  Arfrp1
cd04149860-939  Arf6
cd04150855-939  Arf1_5_like
cd04156859-939  ARLTS1
cd04155848-940  Arl3
cd04161847-957  Arl2l1_Arl13_like
smart00177856-939  ARF
PLN00223860-939  PLN00223
cd04157845-939  Arl6
cd00882856-944  Ras_like_GTPase
cd00879859-939  Sar1
cd04153855-939  Arl5_Arl8
PTZ00133860-939  PTZ00133
cd04154855-939  Arl2
cd04151860-939  Arl1
pfam08477856-938  Miro
cd04158838-939  ARD1
smart00275663-1034  G_alpha
pfam00503683-1026  G-alpha
PRK1232384-300  PRK12323
TIGR00231852-960  small_GTP
pfam0315429-353  Atrophin-1
smart00178857-938  SAR
COG1100858-944  Gem1


Ontology Information


   
HPRD ID4591
Molecular ClassG protein
Molecular FunctionStructural constituent of ribosome (GO:0003735)
Biological ProcessProtein metabolism (GO:0019538)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO