Property Summary

NCBI Gene PubMed Count 402
PubMed Score 1308.32
PubTator Score 1344.65

Knowledge Summary

Patent

No data available

Synonym

Accession P63092 A6NI00 E1P5G5 P04895 Q12927 Q14433 Q32P26 Q5JWD2 Q5JWD4 Q5JWD5 Q6NR75 Q6NXS0 Q8TBC0 Q96H70
Symbols AHO
GSA
GSP
POH
GPSA
NESP
SCG6
SgVI
GNAS1
C20orf45

Gene

PDB

5G53  

Gene RIF (316)

PMID Text
27362234 functional evidence that G-protein coupling to the beta2AR stabilizes a 'closed' receptor conformation characterized by restricted access to and egress from the hormone-binding site
26701869 Known activating mutations in GNAS were detected in five cases (16.1%) of GH-secreting pituitary adenomas.
26333472 DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress
26248895 GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas.
26160192 Report a mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix.
25997889 paternal duplication of the chromosomal region comprising the GNAS locus appears to be a fairly common cause of sporadic Pseudohypoparathyroidism type Ib that is likely to occur with equal frequency in Caucasians and Asians.
25952723 Progressive osseous heteroplasia is caused by a heterozygous GNAS inactivating mutation and has been associated with paternal inheritance--{REVIEW}
25894639 GNAS-based mutations are associated with Progressive osseous heteroplasia with Albright hereditary osteodystrophy.
25882888 he GNAS locus on chromosome 20q13.3 gives rise to several, alternatively spliced transcripts, including the alphasubunit of the stimulatory G protein
25867268 Study demonstrated the presence of recurrent GNAS and KRAS mutations in gastric foveolar metaplasia and gastric heterotopia lesions in the duodenum.
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AA Sequence

MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNG      1 - 70
EGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDF     71 - 140
DFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFET    141 - 210
KFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNR    211 - 280
WLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRIST    281 - 350
ASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL                              351 - 394
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Text Mined References (417)

PMID Year Title
27362234 2016 Allosteric coupling from G protein to the agonist-binding pocket in GPCRs.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26823173 2016 Activation of the cAMP/protein kinase A signalling pathway by coronin 1 is regulated by cyclin-dependent kinase 5 activity.
26701869 2016 Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.
26333472 2015 DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.
26248895 2015 GNAS mutations are not detected in parosteal and low-grade central osteosarcomas.
26206488 2015 Adenylyl Cyclase 5 Regulation by G?? Involves Isoform-Specific Use of Multiple Interaction Sites.
26160192 2015 A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix.
25997889 2015 Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
25952723 2015 [Paternal GNAS mutations: Which phenotypes? What genetic counseling?].
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