Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:GNAS1
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Albright_hereditary_osteodystrophy
pseudohypoparathyroidism |
| gptkbp:encodes |
gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha
|
| gptkbp:Entrez_Gene_ID |
2778
|
| gptkbp:expressedIn |
multiple tissues
|
| gptkbp:function |
signal transduction
|
| gptkbp:HGNC_ID |
4392
|
| https://www.w3.org/2000/01/rdf-schema#label |
Gnas
|
| gptkbp:imprint |
maternal and paternal alleles have different expression
|
| gptkbp:imprintedGene |
yes
|
| gptkbp:locatedOnChromosome |
chromosome 20q13.32 (human)
|
| gptkbp:mutationAssociatedWith |
hormone resistance syndromes
|
| gptkbp:OMIM |
139320
|
| gptkbp:orthologInMouse |
gptkb:Gnas
|
| gptkbp:UniProtID |
P63092
|
| gptkbp:bfsParent |
gptkb:Celldömölk
gptkb:Körmend |
| gptkbp:bfsLayer |
6
|