Property Summary

NCBI Gene PubMed Count 402
PubMed Score 1308.32
PubTator Score 1344.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (9)

Disease Target Count P-value
pilocytic astrocytoma 3086 9.50314152155622E-14
adult high grade glioma 2148 1.6278335214291E-7
ovarian cancer 8492 5.0395594643614E-6
atypical teratoid / rhabdoid tumor 4369 9.02619156876114E-6
Pick disease 1893 2.24433548599501E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 4.62603294707992E-5
glioblastoma 5572 1.33090894632428E-4
medulloblastoma, large-cell 6234 1.92248515370764E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00257898346048937
osteosarcoma 7933 0.00298162880616813
astrocytic glioma 2241 0.00300412611756285
interstitial cystitis 2299 0.00474729296582845
cystic fibrosis 1670 0.00481628026107923
ependymoma 2514 0.00495659787516791
tuberculosis and treatment for 3 months 327 0.00642569862828695
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00730354610569597
medulloblastoma 1524 0.00999181359512322
oligodendroglioma 2849 0.0137964740153987
Alzheimer's disease 644 0.0145742616654345
aldosterone-producing adenoma 664 0.0173512000562344
invasive ductal carcinoma 2950 0.0312980615572418
ductal carcinoma in situ 1745 0.0340130846848883
progressive supranuclear palsy 674 0.0446866866721818
Disease Target Count Z-score Confidence
Kidney disease 397 0.0 2.0
Disease Target Count Z-score Confidence
Cancer 2346 3.949 2.0
Cushing's syndrome 47 3.583 1.8
Obesity 616 3.466 1.7

Expression

Synonym

Accession P84996 A2A2S4
Symbols AHO
GSA
GSP
POH
GPSA
NESP
SCG6
SgVI
GNAS1
C20orf45

Gene

  Ortholog (2)

Species Source
Macaque OMA EggNOG
Mouse EggNOG Inparanoid

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.
More...

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...