LMPD Database

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LMP006612

UniProt Annotations

Entry Information
Gene NameGNAS complex locus
Protein EntryGNAS2_HUMAN
UniProt IDP63092
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=Nesp55 {ECO
DiseaseACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM
DiseaseGNAS hyperfunction (GNASHYP) [MIM
DiseasePseudohypoparathyroidism 1B (PHP1B) [MIM
MiscellaneousThe GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically derived and the Nesp55 isoforms are maternally derived.
MiscellaneousThis protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
PtmBinds keratan sulfate chains.
PtmMay be proteolytically processed to give rise to a number of active peptides.
SimilarityBelongs to the NESP55 family.
Subcellular LocationCytoplasmic vesicle, secretory vesicle {ECO