The Human Protein Atlas

GENE INFORMATION

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Gene name	GNAS (HGNC Symbol)
Synonyms	GNAS1, GNASXL, GPSA, NESP, NESP55, SCG6
Description	GNAS complex locus (HGNC Symbol)
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]
Chromosome	20 (Chromosome progress)
Cytoband	q13.32
Chromosome location (bp)	57414773 - 57486247
Ensembl	ENSG00000087460 (version 69.37)
Entrez gene	2778
UniProt	P63092, P84996, O95467, Q5JWF2
neXtProt	NX_P63092, NX_P84996, NX_O95467, NX_Q5JWF2
Antibodypedia	GNAS antibodies

PROTEIN VIEW

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GNAS-001		GNAS-002		GNAS-009		GNAS-014		GNAS-015		GNAS-017		GNAS-018		GNAS-021		GNAS-022		GNAS-023		GNAS-025		GNAS-035		GNAS-036		GNAS-037		GNAS-038		GNAS-049		GNAS-050		GNAS-058		GNAS-201

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
GNAS-001	ENSP00000360141 ENST00000371100	Q5JWF2 Show all » « Hide Q5JWF2 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas B0AZR9 [Target identity:32%; Query identity:100%] GNAS complex locus, isoform CRA_b; cDNA, FLJ79509, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha; cDNA, FLJ79523, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha	Show » « Hide Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0001501 [skeletal system development] GO:0001894 [tissue homeostasis] GO:0001958 [endochondral ossification] GO:0003924 [GTPase activity] GO:0004871 [signal transducer activity] GO:0005515 [protein binding] GO:0005525 [GTP binding] GO:0005624 [membrane fraction] GO:0005829 [cytosol] GO:0005834 [heterotrimeric G-protein complex] GO:0006112 [energy reserve metabolic process] GO:0006184 [GTP catabolic process] GO:0006306 [DNA methylation] GO:0007189 [adenylate cyclase-activating G-protein coupled receptor signaling pathway] GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007606 [sensory perception of chemical stimulus] GO:0007610 [behavior] GO:0009791 [post-embryonic development] GO:0016020 [membrane] GO:0031234 [extrinsic to internal side of plasma membrane] GO:0031683 [G-protein beta/gamma-subunit complex binding] GO:0031852 [mu-type opioid receptor binding] GO:0035116 [embryonic hindlimb morphogenesis] GO:0035255 [ionotropic glutamate receptor binding] GO:0035264 [multicellular organism growth] GO:0040032 [post-embryonic body morphogenesis] GO:0042493 [response to drug] GO:0043588 [skin development] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045672 [positive regulation of osteoclast differentiation] GO:0046872 [metal ion binding] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0051216 [cartilage development] GO:0071514 [genetic imprinting]	1037	111	No	0
GNAS-002	ENSP00000323571 ENST00000313949	O95467 Show all » « Hide O95467 [Direct mapping] Neuroendocrine secretory protein 55 LHAL tetrapeptide GPIPIRRH peptide A2A2S1 [Target identity:67%; Query identity:100%] GNAS complex locus; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short A2A2S2 [Target identity:45%; Query identity:100%] GNAS complex locus	Show » « Hide Mutated genes in cancer Potential transmembrane proteins THUMBUP predicted membrane proteins Potentially secreted proteins Secreted proteins predicted by MDSP Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0003674 [molecular_function] GO:0005576 [extracellular region] GO:0007565 [female pregnancy] GO:0009306 [protein secretion] GO:0030133 [transport vesicle]	245	28	Yes	0
GNAS-009	ENSP00000360143 ENST00000371102	Q5JWF2 Show all » « Hide Q5JWF2 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas	Show » « Hide Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0001894 [tissue homeostasis] GO:0001958 [endochondral ossification] GO:0003924 [GTPase activity] GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0005624 [membrane fraction] GO:0005829 [cytosol] GO:0005834 [heterotrimeric G-protein complex] GO:0006112 [energy reserve metabolic process] GO:0006184 [GTP catabolic process] GO:0006306 [DNA methylation] GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007606 [sensory perception of chemical stimulus] GO:0007610 [behavior] GO:0016020 [membrane] GO:0031234 [extrinsic to internal side of plasma membrane] GO:0031683 [G-protein beta/gamma-subunit complex binding] GO:0031852 [mu-type opioid receptor binding] GO:0035116 [embryonic hindlimb morphogenesis] GO:0035255 [ionotropic glutamate receptor binding] GO:0035264 [multicellular organism growth] GO:0040032 [post-embryonic body morphogenesis] GO:0042493 [response to drug] GO:0043588 [skin development] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045672 [positive regulation of osteoclast differentiation] GO:0046872 [metal ion binding] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0051216 [cartilage development] GO:0071514 [genetic imprinting]	1023	109.6	No	0
GNAS-014	ENSP00000360115 ENST00000371075	O95467 Show all » « Hide O95467 [Direct mapping] Neuroendocrine secretory protein 55 LHAL tetrapeptide GPIPIRRH peptide A2A2S1 [Target identity:67%; Query identity:100%] GNAS complex locus; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short A2A2S2 [Target identity:45%; Query identity:100%] GNAS complex locus	Show » « Hide Mutated genes in cancer Potential transmembrane proteins THUMBUP predicted membrane proteins Potentially secreted proteins Secreted proteins predicted by MDSP Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0003674 [molecular_function] GO:0005576 [extracellular region] GO:0007565 [female pregnancy] GO:0009306 [protein secretion] GO:0030133 [transport vesicle]	245	28	Yes	0
GNAS-015	ENSP00000360126 ENST00000371085	P63092 Show all » « Hide P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short B0AZR9 [Target identity:85%; Query identity:100%] GNAS complex locus, isoform CRA_b; cDNA, FLJ79509, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha; cDNA, FLJ79523, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha	Show » « Hide Candidate cancer biomarkers Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0003924 [GTPase activity] GO:0004016 [adenylate cyclase activity] GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0005622 [intracellular] GO:0005624 [membrane fraction] GO:0005737 [cytoplasm] GO:0005834 [heterotrimeric G-protein complex] GO:0005886 [plasma membrane] GO:0006112 [energy reserve metabolic process] GO:0006171 [cAMP biosynthetic process] GO:0006184 [GTP catabolic process] GO:0006833 [water transport] GO:0007190 [activation of adenylate cyclase activity] GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007596 [blood coagulation] GO:0007608 [sensory perception of smell] GO:0031224 [intrinsic to membrane] GO:0032588 [trans-Golgi network membrane] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0046907 [intracellular transport] GO:0050796 [regulation of insulin secretion] GO:0055085 [transmembrane transport] GO:0071377 [cellular response to glucagon stimulus] GO:0071380 [cellular response to prostaglandin E stimulus] GO:0071870 [cellular response to catecholamine stimulus]	394	45.7	No	0
GNAS-017	ENSP00000360136 ENST00000371095	P63092 Show all » « Hide P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	Show » « Hide Candidate cancer biomarkers Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0003924 [GTPase activity] GO:0004016 [adenylate cyclase activity] GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0005622 [intracellular] GO:0005624 [membrane fraction] GO:0005737 [cytoplasm] GO:0005834 [heterotrimeric G-protein complex] GO:0005886 [plasma membrane] GO:0006112 [energy reserve metabolic process] GO:0006171 [cAMP biosynthetic process] GO:0006184 [GTP catabolic process] GO:0006833 [water transport] GO:0007190 [activation of adenylate cyclase activity] GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007596 [blood coagulation] GO:0007608 [sensory perception of smell] GO:0031224 [intrinsic to membrane] GO:0032588 [trans-Golgi network membrane] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0046907 [intracellular transport] GO:0050796 [regulation of insulin secretion] GO:0055085 [transmembrane transport] GO:0071377 [cellular response to glucagon stimulus] GO:0071380 [cellular response to prostaglandin E stimulus] GO:0071870 [cellular response to catecholamine stimulus]	380	44.3	No	0
GNAS-018	ENSP00000346328 ENST00000354359	A6NI00 Show all » « Hide A6NI00 [Target identity:100%; Query identity:100%] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	Show » « Hide Mutated genes in cancer	Show » « Hide GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0005737 [cytoplasm] GO:0007186 [G-protein coupled receptor signaling pathway]	395	45.8	No	0
GNAS-021	ENSP00000345971 ENST00000338783	A2A2R6 Show all » « Hide A2A2R6 [Target identity:100%; Query identity:100%] GNAS complex locus; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	Show » « Hide Mutated genes in cancer	Show » « Hide GO:0004871 [signal transducer activity] GO:0007186 [G-protein coupled receptor signaling pathway] GO:0019001 [guanyl nucleotide binding]	61	7	No	0
GNAS-022	ENSP00000392000 ENST00000453292	A2A2S1 Show all » « Hide A2A2S1 [Target identity:100%; Query identity:100%] GNAS complex locus; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short A2A2S2 [Target identity:67%; Query identity:100%] GNAS complex locus	Show » « Hide Mutated genes in cancer		166	19	No	0
GNAS-023	ENSP00000416234 ENST00000419558	A2A2S2 Show all » « Hide A2A2S2 [Target identity:99%; Query identity:100%] GNAS complex locus	Show » « Hide Mutated genes in cancer		113	12.7	No	0
GNAS-025	ENSP00000360139 ENST00000371098	O95467 Show all » « Hide O95467 [Direct mapping] Neuroendocrine secretory protein 55 LHAL tetrapeptide GPIPIRRH peptide A2A2S1 [Target identity:67%; Query identity:100%] GNAS complex locus; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short A2A2S2 [Target identity:45%; Query identity:100%] GNAS complex locus	Show » « Hide Mutated genes in cancer Potential transmembrane proteins THUMBUP predicted membrane proteins Potentially secreted proteins Secreted proteins predicted by MDSP Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0003674 [molecular_function] GO:0005576 [extracellular region] GO:0007565 [female pregnancy] GO:0009306 [protein secretion] GO:0030133 [transport vesicle]	245	28	Yes	0
GNAS-035	ENSP00000265620 ENST00000265620	P63092 Show all » « Hide P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	Show » « Hide Candidate cancer biomarkers Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0003924 [GTPase activity] GO:0004016 [adenylate cyclase activity] GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0005622 [intracellular] GO:0005624 [membrane fraction] GO:0005737 [cytoplasm] GO:0005834 [heterotrimeric G-protein complex] GO:0005886 [plasma membrane] GO:0006112 [energy reserve metabolic process] GO:0006171 [cAMP biosynthetic process] GO:0006184 [GTP catabolic process] GO:0006833 [water transport] GO:0007190 [activation of adenylate cyclase activity] GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007596 [blood coagulation] GO:0007608 [sensory perception of smell] GO:0031224 [intrinsic to membrane] GO:0032588 [trans-Golgi network membrane] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0046907 [intracellular transport] GO:0050796 [regulation of insulin secretion] GO:0055085 [transmembrane transport] GO:0071377 [cellular response to glucagon stimulus] GO:0071380 [cellular response to prostaglandin E stimulus] GO:0071870 [cellular response to catecholamine stimulus]	379	44.2	No	0
GNAS-036	ENSP00000412424 ENST00000450130	Q5JWE8 Show all » « Hide Q5JWE8 [Target identity:99%; Query identity:100%] GNAS complex locus	Show » « Hide Mutated genes in cancer		199	22.7	No	0
GNAS-037	ENSP00000265621 ENST00000349036	Q5JWE9 Show all » « Hide Q5JWE9 [Target identity:100%; Query identity:100%] GNAS complex locus; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	Show » « Hide Mutated genes in cancer	Show » « Hide GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0007186 [G-protein coupled receptor signaling pathway]	193	21.9	No	0
GNAS-038	ENSP00000360122 ENST00000371081	Q5JWD1 Show all » « Hide Q5JWD1 [Target identity:100%; Query identity:100%] GNAS complex locus; Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	Show » « Hide Mutated genes in cancer	Show » « Hide GO:0004871 [signal transducer activity] GO:0007186 [G-protein coupled receptor signaling pathway] GO:0019001 [guanyl nucleotide binding]	87	9.6	No	0
GNAS-049	ENSP00000412356 ENST00000423897	Q5JW64 Show all » « Hide Q5JW64 [Target identity:98%; Query identity:100%] GNAS complex locus	Show » « Hide Mutated genes in cancer		93	10.4	No	0
GNAS-050	ENSP00000302237 ENST00000306120	P84996 Show all » « Hide P84996 [Direct mapping] Protein ALEX	Show » « Hide Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0001726 [ruffle] GO:0005886 [plasma membrane]	625	67.8	No	0
GNAS-058	ENSP00000360140 ENST00000371099	Q5JWF2 Show all » « Hide Q5JWF2 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas	Show » « Hide Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0001894 [tissue homeostasis] GO:0001958 [endochondral ossification] GO:0003924 [GTPase activity] GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0005624 [membrane fraction] GO:0005829 [cytosol] GO:0005834 [heterotrimeric G-protein complex] GO:0006112 [energy reserve metabolic process] GO:0006184 [GTP catabolic process] GO:0006306 [DNA methylation] GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007606 [sensory perception of chemical stimulus] GO:0007610 [behavior] GO:0016020 [membrane] GO:0031234 [extrinsic to internal side of plasma membrane] GO:0031683 [G-protein beta/gamma-subunit complex binding] GO:0031852 [mu-type opioid receptor binding] GO:0035116 [embryonic hindlimb morphogenesis] GO:0035255 [ionotropic glutamate receptor binding] GO:0035264 [multicellular organism growth] GO:0040032 [post-embryonic body morphogenesis] GO:0042493 [response to drug] GO:0043588 [skin development] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045672 [positive regulation of osteoclast differentiation] GO:0046872 [metal ion binding] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0051216 [cartilage development] GO:0071514 [genetic imprinting]	720	74.3	No	0
GNAS-201	ENSP00000304472 ENST00000306090	P63092 Show all » « Hide P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	Show » « Hide Candidate cancer biomarkers Mutated genes in cancer Mapped to UniProt SWISS-PROT UniProt - Evidence at protein level	Show » « Hide GO:0003924 [GTPase activity] GO:0004016 [adenylate cyclase activity] GO:0004871 [signal transducer activity] GO:0005525 [GTP binding] GO:0005622 [intracellular] GO:0005624 [membrane fraction] GO:0005737 [cytoplasm] GO:0005834 [heterotrimeric G-protein complex] GO:0005886 [plasma membrane] GO:0006112 [energy reserve metabolic process] GO:0006171 [cAMP biosynthetic process] GO:0006184 [GTP catabolic process] GO:0006833 [water transport] GO:0007190 [activation of adenylate cyclase activity] GO:0007191 [adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007596 [blood coagulation] GO:0007608 [sensory perception of smell] GO:0031224 [intrinsic to membrane] GO:0032588 [trans-Golgi network membrane] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0046907 [intracellular transport] GO:0050796 [regulation of insulin secretion] GO:0055085 [transmembrane transport] GO:0071377 [cellular response to glucagon stimulus] GO:0071380 [cellular response to prostaglandin E stimulus] GO:0071870 [cellular response to catecholamine stimulus]	380	44.3	No	0

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.