Homo sapiens Gene: GNAS
Summary
InnateDB Gene IDBG-82827.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNAS
Gene Name GNAS complex locus
Synonyms AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH;
Species Homo sapiens
Ensembl Gene ENSG00000087460
Encoded Proteins
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
GNAS complex locus
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:58839718-58911192
Strand Forward strand
Band q13.32
Transcripts
ENST00000313949 ENSP00000323571
ENST00000306120 ENSP00000302237
ENST00000371102 ENSP00000360143
ENST00000371100 ENSP00000360141
ENST00000371099 ENSP00000360140
ENST00000306090 ENSP00000304472
ENST00000371098 ENSP00000360139
ENST00000371095 ENSP00000360136
ENST00000349036 ENSP00000265621
ENST00000371085 ENSP00000360126
ENST00000265620 ENSP00000265620
ENST00000371081 ENSP00000360122
ENST00000338783 ENSP00000345971
ENST00000354359 ENSP00000346328
ENST00000371075 ENSP00000360115
ENST00000453292 ENSP00000392000
ENST00000419558 ENSP00000416234
ENST00000450130 ENSP00000412424
ENST00000423897 ENSP00000412356
ENST00000491348
ENST00000472183
ENST00000482112
ENST00000462499
ENST00000490374
ENST00000493744
ENST00000467227
ENST00000464624
ENST00000481768
ENST00000464960
ENST00000488546
ENST00000481039
ENST00000468895
ENST00000467321
ENST00000477931
ENST00000485673
ENST00000470512
ENST00000464788
ENST00000469431
ENST00000478585
ENST00000480975
ENST00000480232
ENST00000484504
ENST00000461152
ENST00000488652
ENST00000476935
ENST00000492907
ENST00000483387
ENST00000487862
ENST00000496934
ENST00000476196
ENST00000494081
ENST00000487981
ENST00000493958
ENST00000479025
ENST00000475610
ENST00000604005 ENSP00000474219
ENST00000603546 ENSP00000474802
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 52 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 52 [view]
Protein-Protein 51 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0003924 GTPase activity
GO:0004016 adenylate cyclase activity
GO:0004871 signal transducer activity
GO:0005159 insulin-like growth factor receptor binding
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031698 beta-2 adrenergic receptor binding
GO:0031748 D1 dopamine receptor binding
GO:0031852 mu-type opioid receptor binding
GO:0035255 ionotropic glutamate receptor binding
GO:0046872 metal ion binding
GO:0051430 corticotropin-releasing hormone receptor 1 binding
Biological Process
GO:0001501 skeletal system development
GO:0001894 tissue homeostasis
GO:0001958 endochondral ossification
GO:0006112 energy reserve metabolic process
GO:0006171 cAMP biosynthetic process
GO:0006184 GTP catabolic process
GO:0006306 DNA methylation
GO:0006833 water transport
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway
GO:0007565 female pregnancy
GO:0007596 blood coagulation
GO:0007606 sensory perception of chemical stimulus
GO:0007608 sensory perception of smell
GO:0009306 protein secretion
GO:0009791 post-embryonic development
GO:0030819 positive regulation of cAMP biosynthetic process
GO:0032320 positive regulation of Ras GTPase activity
GO:0035116 embryonic hindlimb morphogenesis
GO:0035264 multicellular organism growth
GO:0040015 negative regulation of multicellular organism growth
GO:0040032 post-embryonic body morphogenesis
GO:0042493 response to drug
GO:0043588 skin development
GO:0043950 positive regulation of cAMP-mediated signaling
GO:0044281 small molecule metabolic process
GO:0045669 positive regulation of osteoblast differentiation
GO:0045672 positive regulation of osteoclast differentiation
GO:0046907 intracellular transport
GO:0048589 developmental growth
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0050796 regulation of insulin secretion
GO:0050890 cognition
GO:0051216 cartilage development
GO:0055085 transmembrane transport
GO:0060348 bone development
GO:0060789 hair follicle placode formation
GO:0070527 platelet aggregation
GO:0071107 response to parathyroid hormone
GO:0071377 cellular response to glucagon stimulus
GO:0071380 cellular response to prostaglandin E stimulus
GO:0071514 genetic imprinting
GO:0071870 cellular response to catecholamine stimulus
GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway
Cellular Component
GO:0001726 ruffle
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030133 transport vesicle
GO:0030425 dendrite
GO:0031224 intrinsic component of membrane
GO:0032588 trans-Golgi network membrane
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
TSH pathway
REACTOME
G alpha (s) signalling events pathway
Integration of energy metabolism pathway
Transmembrane transport of small molecules pathway
Vasopressin regulates renal water homeostasis via Aquaporins pathway
Signaling by Hedgehog pathway
Signaling by GPCR pathway
Prostacyclin signalling through prostacyclin receptor pathway
Glucagon signaling in metabolic regulation pathway
Signal Transduction pathway
GPCR downstream signaling pathway
G alpha (i) signalling events pathway
Hedgehog 'off' state pathway
Glucagon-type ligand receptors pathway
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion pathway
Platelet homeostasis pathway
G alpha (z) signalling events pathway
GPCR ligand binding pathway
Regulation of insulin secretion pathway
PKA activation in glucagon signalling pathway
Metabolism pathway
Class B/2 (Secretin family receptors) pathway
Aquaporin-mediated transport pathway
Hemostasis pathway
KEGG
Calcium signaling pathway pathway
Vascular smooth muscle contraction pathway
Gap junction pathway
Long-term depression pathway
Taste transduction pathway
GnRH signaling pathway pathway
Melanogenesis pathway
Vasopressin-regulated water reabsorption pathway
Salivary secretion pathway
Gastric acid secretion pathway
Pancreatic secretion pathway
Bile secretion pathway
Vibrio cholerae infection pathway
Chagas disease (American trypanosomiasis) pathway
Amoebiasis pathway
Dilated cardiomyopathy pathway
INOH
GPCR signaling pathway
GPCR Adenosine A2A receptor signaling pathway pathway
GPCR Dopamine D1like receptor signaling pathway pathway
PID BIOCARTA
Regulation of spermatogenesis by crem [Biocarta view]
Role of ?-arrestins in the activation and targeting of map kinases [Biocarta view]
Signaling pathway from g-protein families [Biocarta view]
Corticosteroids and cardioprotection [Biocarta view]
Ccr3 signaling in eosinophils [Biocarta view]
Phospholipase c-epsilon pathway [Biocarta view]
Cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway [Biocarta view]
Attenuation of gpcr signaling [Biocarta view]
Transcription factor creb and its extracellular signals [Biocarta view]
Ss-arrestins in gpcr desensitization [Biocarta view]
Chrebp regulation by carbohydrates and camp [Biocarta view]
How progesterone initiates the oocyte maturation [Biocarta view]
Gata3 participate in activating the th2 cytokine genes expression [Biocarta view]
Activation of camp-dependent protein kinase pka [Biocarta view]
Regulation of ck1/cdk5 by type 1 glutamate receptors [Biocarta view]
Roles of ? arrestin dependent recruitment of src kinases in gpcr signaling [Biocarta view]
Ion channels and their functional role in vascular endothelium [Biocarta view]
Activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.125898 Hs.598953 Hs.694849
RefSeq NM_000516 NM_001077488 NM_001077489 NM_001077490 NM_016592 NM_080425 NM_080426 XM_006723782
HUGO
OMIM
CCDS CCDS13471 CCDS13472 CCDS42892 CCDS46622 CCDS46623 CCDS46624
HPRD 00761
IMGT
EMBL
GenPept
RNA Seq Atlas