Property Summary

NCBI Gene PubMed Count 402
Grant Count 229
R01 Count 106
Funding $27,064,973.52
PubMed Score 1308.32
PubTator Score 1344.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (84)

Disease Z-score Confidence
Pseudohypoparathyroidism 17 7.852 3.9
McCune Albright syndrome 19 7.231 3.6
Fibrous dysplasia 15 6.585 3.3
Brachydactyly 52 5.533 2.8
Adenoma 165 5.101 2.6
Hyperphosphatemia 32 5.024 2.5
Acrodysostosis 9 5.014 2.5
Fibrodysplasia ossificans progressiva 17 4.737 2.4
Carney complex 23 4.48 2.2
Acromegaly 40 4.103 2.1
Ossifying fibroma 13 4.08 2.0
Cancer 2,346 3.949 2.0
Pituitary adenoma 35 3.787 1.9
Beckwith-Wiedemann syndrome 46 3.641 1.8
Hypothyroidism 89 3.591 1.8
Cushing's syndrome 47 3.583 1.8
Hypoparathyroidism 29 3.517 1.8
Obesity 616 3.466 1.7
Primary pigmented nodular adrenocortical... 12  3.236 1.6
Multiple Endocrine Neoplasia Type 1 30 3.161 1.6
Hyperthyroidism 50 3.146 1.6
ACTH-Secreting Pituitary Adenoma 4
Acth-Independent Macronodular Adrenal Hy... 1 
Adrenal Gland Neoplasms 11
Albright's hereditary osteodystrophy 3
Alzheimer's disease 644
Anoxia 33
Biliary calculi 4
Bone cancer 9 1.0
Cafe-au-Lait Spots 3
Carcinoma 2,147 1.0
Cholangiocarcinoma 32
Endocrine System Diseases 2
Fibrous Dysplasia, Monostotic 1
Growth Hormone-Secreting Pituitary Adeno... 5 
Hemorrhagic Disorders 3
Heterotopic Ossification 2
Hypertensive disease 193
Insulin Resistance 48
Intellectual disability 573
Kidney cancer 118 1.0
Kidney disease 396 2.0
Liver Diseases, Parasitic 9
McCune-Albright Syndrome 1
Neuroblastoma 78
Osteoma cutis 1
PSEUDOHYPOPARATHYROIDISM, TYPE IB 2
Pick disease 1,893
Pituitary-dependent Cushing's disease 8
Polycystic Ovary Syndrome 332
Polyostotic fibrous dysplasia 1
Precocious puberty 4
Pseudohypoaldosteronism 22
Pseudohypoparathyroidism Type 1B 2
Pseudohypoparathyroidism Type 1C 1
Pseudohypoparathyroidism, Type Ia 1
Pseudopseudohypoparathyroidism 3
Respiration Disorders 3
Sex Cord-Stromal Tumor 1
Substance Withdrawal Syndrome 52
Tachycardia 17
adult high grade glioma 2,148
aldosterone-producing adenoma 664
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
ependymoma 2,514
glioblastoma 5,572
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300 1.0
pilocytic astrocytoma 3,086
pituitary cancer 1,972 1.0
progressive supranuclear palsy 674
tuberculosis and treatment for 3 months 327

Expression

Synonym

Accession P84996 A2A2S4
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

MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLDSPVGSMQALR      1 - 70
PSAQHSWSPEPSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQTLLQEAQVLQGSPELLPRSP     71 - 140
KPSGLQRLAPEEATALPLRRLCHLSLMEKDLGTTAHPRGFPELSHKSTAAASSRQSRPRVRSASLPPRTR    141 - 210
LPSGSQAPSAAHPKRLSDLLLTSRAAAPGWRSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEP    211 - 280
QIRESEQRDPQLRRKQQRWKEPLMPRREEKYPLRGTDPLPPGQPQRIPLPGQPLQPQPILTPGQPQKIPT    281 - 350
PGQHQPILTPGHSQPIPTPGQPLPPQPIPTPGRPLTPQPIPTPGRPLTPQPIQMPGRPLRLPPPLRLLRP    351 - 420
GQPMSPQLRQTQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPPAPRSRLPIRLLRGLLARLPGG    421 - 490
ASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPDASAGFSIGEIAAAESPSATYSATFSCKPSGAASVD    491 - 560
LRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQRRNAVSSSTNNSRTKRWATCVRTACCF        561 - 626
//

Text Mined References (407)

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.
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?].
25894639 2015 Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
More...