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FLASH GENE

Symbol

GNAS

contributors: mct/npt - updated : 09-07-2019

HGNC name	GNAS complex locus
HGNC id	4392

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     predominantly   pancreas exocrine       highly   stomach       moderately Nervous brain       moderately Reproductive female system uterus cervix   moderately   female system breast mammary gland   moderately Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

IMPRINTING	maternally, paternally
text	maternally, paternally, and biallelically expressed proteins produced by different patterns of promoter use
	imprinting defects may affect Gs expression in imprinted tissues (renal proximal tubule and thyroid)
	expression in renal proximal tubules occurs predominantly from the maternal allele (important determinant of hormone resistance in kindreds with pseudohypoparathyroidism)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

ras-like GTPase domain with three regions named switches 1, 2 and 3 and including the sites for guanine nucleotide binding and effector interaction

secondary structure

an helical domain

conjugated

LipoP , Other

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

ortholog to murine Gnas

Homologene

FAMILY	G-alpha family
	G(s) subfamily
	NESP55 family

CATEGORY

regulatory , secretory , protooncogene , signaling , receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
text	GNAS and CCDC88A localize to EEA1 early endosomes

basic FUNCTION	putatively involved in secretory vesicle formation
	involved in hormonal regulation of adenylate cyclase: activation of the cyclase in response to beta-adrenergic stimuli
	proteolytically derived peptide (LSAL) antagonizing serotonergic receptor 5HT1RB
	involved as modulators or transducers in various transmembrane signaling systems
	primarily mediating the differential effects of parathyroid hormone on trabecular and cortical bone in osteoblasts
	negatively regulating chondrocyte differentiation and acting as critical signaling mediator of the PTH/PTH-rP receptor in growth plate chondrocytes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

composed of 3 units (beta, gamma and alpha chain containing the guanine nucleotide binding site)

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein	ALEX1
	GNAS facilitates EEA1 endosome maturation, limits EGFR signaling from EEA1 endosomes, and inhibits cell proliferation
	GNAS facilitates dissociation of EEA1 from membranes, which is a key step in EEA1 endosome maturation and EGFR signal down-regulation
	GNAS and CCDC88A functionally interact to facilitate endosome maturation, EGFR degradation, and down-regulation of EGFR proliferative signaling
	GPR174 can signal via GNAS to modulate B cell gene expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCAS , PHP1A , PHP1B , PHP1C , PPHP , POH , PAD , DEL20Q13

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   by partial and complete hypomethylation in Beckwith-Wiedemann syndrome (Bliek (2009)

Susceptibility

to severe malaria to vasovagal syncope

Variant & Polymorphism SNP	three SNP presenting significant associations with severe malaria were clustered at the 5-prime end (Auburn 2008)
	mutation T/C inside codon 131 causes the increased activation of adenyl cyclase, which plays an important role in cardiovascular regulation, and predisposes to vasovagal syncope (Lelonek 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS