AlphaFold predicted structure
GNAS · O95467
Mean pLDDT
59.8/ 100
Low
245 residues
Confidence breakdown
- Very high(≥ 90)5%
- Confident(70–90)20%
- Low(50–70)45%
- Very low(< 50)31%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GNAS
Chr 20q13.32GNAS complex locus
- Aliases:
- NESP55, NESP, GNASXL, GPSA, SCG6
- MANE:
- ENST00000371085.8
Annotations refreshed 8 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
UnknownCongenital hypothyroidism
UnknownDDG2P
UnknownFetal anomalies
UnknownIntellectual disability
UnknownLimb disorders
UnknownMosaic skin disorders - deep sequencing
UnknownNeurofibromatosis Type 1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
pseudohypoparathyroidism type 1A
0.84pseudohypoparathyroidism type 1C
0.82McCune-Albright syndrome
0.81Albright hereditary osteodystrophy
0.80pseudohypoparathyroidism type 1B
0.80ACTH-independent macronodular adrenal hyperplasia 1
0.79progressive osseous heteroplasia
0.77pseudopseudohypoparathyroidism
0.76pituitary adenoma 3, multiple types
0.66pseudohypoparathyroidism
0.65
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein ALEX
May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame
Diseases associated with GNAS
Curated MONDO disease pages that list GNAS among their top associated genes.