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Merck

GNAS

GNAS complex locus

Synonyms:
AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PHP1A, PHP1B, PHP1C, POH
Species:
Human GNAS (2778), Mouse Gnas (14683), Rat Gnas (24896), domestic guinea pig Gnas (100732436), naked mole-rat Gnas (101716905), dog GNAS (403943), domestic cat GNAS (101098453), cow GNAS (281793), Zebrafish gnas (557353), chicken GNAS (419313)
UniProtKB ID:
P84996, A2A2S4
Gene ID:
  • Human(2778) Summary: 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]
  • Mouse(14683) GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus
  • Rat(24896) GNAS complex locus
  • domestic guinea pig(100732436) GNAS complex locus
  • naked mole-rat(101716905) GNAS complex locus
  • dog(403943) GNAS complex locus
  • domestic cat(101098453) GNAS complex locus
  • cow(281793) GNAS complex locus
  • Zebrafish(557353) GNAS complex locus
  • chicken(419313) GNAS complex locus

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Antibodies

Product Number
Description
Species Reactivity
Application
SAB2100941
Anti-GNAS antibody produced in rabbit, affinity isolated antibody,
Species Reactivity
bovine, dog, guinea pig, horse, human, mouse, rat
Application
immunohistochemistry
western blot