Property Summary

NCBI Gene PubMed Count 402
PubMed Score 1308.32
PubTator Score 1344.65

Knowledge Summary

Patent

No data available

Synonym

Accession Q5JWF2 A2A2S3 E1P5G3 O75684 O75685 Q5JW67 Q5JWF1 Q9NY42
Symbols AHO
GSA
GSP
POH
GPSA
NESP
SCG6
SgVI
GNAS1
C20orf45

Gene

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

MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGP      1 - 70
PEVSRPNFQVLNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALME     71 - 140
PGAFSGARPGLGGYSPPPEEAMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKA    141 - 210
GSRGGYSPPPEETMPFELDGEGFGDDSPPPGLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGA    211 - 280
IGSPSQEAVRPPSNFTGSSPWMEISGPPFEIGSAPAGVDDTPVNMDSPPIALDGPPIKVSGAPDKRERAE    281 - 350
RPPVEEEAAEMEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPADPDSGATPEDPDSGTAPADP    351 - 420
DSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAAETRAAHVAPA    421 - 490
APDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRG    491 - 560
RRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRRRKPQRNLLRNFLVQAFGGCFGRSESPQPKA    561 - 630
SRSLKVKKVPLAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIV    631 - 700
KQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFR    701 - 770
VDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDL    771 - 840
LRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQ    841 - 910
EALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRA    911 - 980
KYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL                 981 - 1037
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Text Mined References (413)

PMID Year Title
27362234 2016 Allosteric coupling from G protein to the agonist-binding pocket in GPCRs.
27120771 2016 Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
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.
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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