Tbio Q5JWF2 Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

Protein Summary

Description

Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity). 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]

Uniprot Accession IDs

• Q5JWF2
• A2A2S3
• E1P5G3
• O75684
• O75685
• Q5JW67
• Q5JWF1
• Q9NY42

Gene Name

• GNAS

Ensembl ID

• ENST00000371100
• ENSP00000360141
• ENSG00000087460
• ENST00000371102
• ENSP00000360143

Symbol

• GNAS1
• AHO
• GSA
• GSP
• POH
• GPSA
• NESP
• SCG6
• SgVI
• GNAS1
• PITA3
• C20orf45

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0
biological term	0
cell line	0
cell type or tissue	0
cellular component	0

Protein Classes

PANTHER Classes

Protein / Enzyme Modulator / G-protein / Heterotrimeric G-protein / Guanine Nucleotide-binding Protein G(s) Subunit Alpha Isoforms Xlas

DTO Classes

Protein / Enzyme Modulator / G-protein / Heterotrimeric G-protein / Guanine Nucleotide-binding Protein G(s) Subunit Alpha Isoforms Xlas

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 955.82   (req: < 5)

Gene RIFs: 333   (req: <= 3)

Antibodies: 695   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 955.82   (req: >= 5)

Gene RIFs: 333   (req: > 3)

Antibodies: 695   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 33

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (380)

Explore Interacting Targets

1 – 10 of 380

• See Interactions on String-DB

GNG2

Tbio

Novelty:  0.04807242

Score:  0.993

Data Source:  STRINGDB

GNB1

Tbio

Novelty:  0.02477955

Score:  0.992

Data Source:  STRINGDB

GNG4

Tbio

Novelty:  0.14371438

Score:  0.984

Data Source:  STRINGDB

PRKAR1A

Tbio

Family:  Enzyme

Novelty:  0.00311432

Score:  0.979

Data Source:  STRINGDB

ADCY2

Tbio

Family:  Enzyme

Novelty:  0.01649836

Score:  0.978

Data Source:  STRINGDB

TSHR

Tclin

Family:  GPCR

Novelty:  0.00074972

Score:  0.97

Data Source:  STRINGDB

ADRB2

Tclin

Family:  GPCR

Novelty:  0.00041821

Score:  0.969

Data Source:  STRINGDB

GNB3

Tbio

Novelty:  0.0037117

Score:  0.969

Data Source:  STRINGDB

ADCY5

Tchem

Family:  Enzyme

Novelty:  0.00307839

Score:  0.968

Data Source:  STRINGDB

PTH

Tbio

Novelty:  0.00003263

Score:  0.968

Data Source:  STRINGDB

Nearest Tclin Targets (35)

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Upstream (34)

Downstream (1)

1 – 5 of 34

IGF1R

Tclin

Family:  Kinase

KEGG Distance:  1

Common Pathways:  5

1: Endocrine resistance

2: Long-term depression

3: Rap1 signaling pathway

4: Pathways in cancer

5: Ovarian steroidogenesis

PTGER4

Tclin

Family:  GPCR

KEGG Distance:  1

Common Pathways:  5

1: Inflammatory mediator regulation of TRP channels

2: Renin secretion

3: Pathways in cancer

4: Human papillomavirus infection

5: Human cytomegalovirus infection

PTGER2

Tclin

Family:  GPCR

KEGG Distance:  1

Common Pathways:  5

1: Inflammatory mediator regulation of TRP channels

2: cAMP signaling pathway

3: Renin secretion

4: Pathways in cancer

5: Human cytomegalovirus infection

F2R

Tclin

Family:  GPCR

KEGG Distance:  1

Common Pathways:  6

1: Platelet activation

2: Calcium signaling pathway

3: cAMP signaling pathway

4: Rap1 signaling pathway

more:  2 more common pathways

PTGIR

Tclin

Family:  GPCR

KEGG Distance:  1

Common Pathways:  2

1: Platelet activation

2: Vascular smooth muscle contraction

Pathways (83)

Reactome (23)

KEGG (48)

PathwayCommons (1)

WikiPathways (11)

Aquaporin-mediated transport (R-HSA-445717)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Aquaporin-mediated transport	55 targets	R-HSA-445717
Reactome	Class B/2 (Secretin family receptors)	97 targets	R-HSA-373080
Reactome	G alpha (i) signalling events	408 targets	R-HSA-418594
Reactome	G alpha (s) signalling events	577 targets	R-HSA-418555
Reactome	G alpha (z) signalling events	51 targets	R-HSA-418597

Name	Explore in Pharos	Explore in Source
Aquaporin-mediated transport	55 targets	R-HSA-445717
Class B/2 (Secretin family receptors)	97 targets	R-HSA-373080
G alpha (i) signalling events	408 targets	R-HSA-418594
G alpha (s) signalling events	577 targets	R-HSA-418555
G alpha (z) signalling events	51 targets	R-HSA-418597

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (39)

Functions (11)

Components (6)

Processes (22)

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Items per page:

10

1 – 10 of 11

GO Term	Evidence	Assigned by
beta-2 adrenergic receptor binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
corticotropin-releasing hormone receptor 1 binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
D1 dopamine receptor binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
G protein-coupled receptor binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
G-protein beta/gamma-subunit complex binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
GTPase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
insulin-like growth factor receptor binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
ionotropic glutamate receptor binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
mu-type opioid receptor binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
GTP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (22)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body height	EFO_0004339	1	2	8		91.7
mean platelet volume	EFO_0004584	2	2	12		83.2
type II diabetes mellitus	EFO_0001360	4	4	8	1.1	81.9
blood urea nitrogen measurement	EFO_0004741	3	3	12		73.8
creatinine measurement	EFO_0004518	2	2	8		70.4

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body height	EFO_0004339	8		91.7
mean platelet volume	EFO_0004584	12		83.2
type II diabetes mellitus	EFO_0001360	8	1.1	81.9
blood urea nitrogen measurement	EFO_0004741	12		73.8
creatinine measurement	EFO_0004518	8		70.4

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UniProt Keyword Find Similar Targets

No Header	No Header
ADP-ribosylation
Alternative splicing
Cell membrane
Coiled coil
Complete proteome
Cushing syndrome
Disease mutation
GTP-binding
Magnesium
Membrane

GWAS Trait Find Similar Targets

No Header	No Header
blood urea nitrogen measurement
BMI-adjusted hip circumference
BMI-adjusted waist circumference
body height
colorectal cancer
comparative body size at age 10, self-reported
creatinine measurement
diastolic blood pressure
glomerular filtration rate
glucose measurement

MGI Phenotype Find Similar Targets

No Header	No Header
adipose tissue phenotype
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
craniofacial phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype

IDG Resources

No IDG generated resources found

Orthologs (2)

1 – 2 of 2

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	guanine nucleotide-binding protein G(s) subunit alpha		694289
Mouse	GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus	MGI:95777	14683

Species	Name	OMA	EggNOG	Inparanoid
Macaque	guanine nucleotide-binding protein G(s) subunit alpha
Mouse	GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus

Publication Statistics

PubMed Score 955.82

PubMed score by year

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PubTator Score 1346.09

PubTator score by year

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Related Publications

Text Mined References (460)

GeneRif Annotations (333)

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PMID	Year	Title