Human Gene GNAS (ENST00000371075.7_7) from GENCODE V47lift37
  Description: GNAS complex locus, transcript variant 4 (from RefSeq NM_016592.5)
Gencode Transcript: ENST00000371075.7_7
Gencode Gene: ENSG00000087460.29_21
Transcript (Including UTRs)
   Position: hg19 chr20:57,414,803-57,486,247 Size: 71,445 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr20:57,415,162-57,415,899 Size: 738 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:57,414,803-57,486,247)mRNA (may differ from genome)Protein (245 aa)
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-  Comments and Description Text from UniProtKB
  ID: GNAS3_HUMAN
DESCRIPTION: RecName: Full=Neuroendocrine secretory protein 55; Short=NESP55; Contains: RecName: Full=LHAL tetrapeptide; Contains: RecName: Full=GPIPIRRH peptide; Flags: Precursor;
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle (By similarity). Secreted (By similarity). Note=Neuroendocrine secretory granules (By similarity).
PTM: Binds keratan sulfate chains (By similarity).
PTM: May be proteolytically processed to give rise to a number of active peptides.
DISEASE: Defects in GNAS are a cause of ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]; also known as adrenal Cushing syndrome due to AIMAH. A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and trunkal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
DISEASE: Genetic variations in GNAS are the cause of pseudohypoparathyroidism type 1B (PHP1B) [MIM:603233]. PHP1B is characterized by parathyroid hormone (PTH)-resistant hypocalcemia and hyperphosphatemia. Patients affected with PHP1B have normal activity of the product of GNAS, lack developmental defects characteristic of AHO, and typically show no other endocrine abnormalities besides resistance to PTH. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed.
DISEASE: Defects in GNAS are the cause of GNAS hyperfunction (GNASHYP) [MIM:139320]. This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms.
MISCELLANEOUS: This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
MISCELLANEOUS: The 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.
SIMILARITY: Belongs to the NESP55 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNAS
Diseases sorted by gene-association score: mccune-albright syndrome, somatic, mosaic* (1680), pseudohypoparathyroidism ia* (1678), pseudohypoparathyroidism ic* (1650), osseous heteroplasia, progressive* (1578), pseudopseudohypoparathyroidism* (1397), acth-independent macronodular adrenal hyperplasia* (1241), pseudohypoparathyroidism, type ib* (976), pituitary adenoma, growth hormone-secreting* (650), brachydactyly* (445), cushing's syndrome* (443), monostotic fibrous dysplasia* (369), cushing syndrome due to macronodular adrenal hyperplasia* (350), gnas hyperfunction* (330), acromegaly* (313), hypocalcemia, autosomal dominant* (295), brachydactyly, type a1* (283), pituitary adenoma, acth-secreting* (233), obesity susceptibility, adrb2-related* (231), obesity susceptibility, adrb3-related* (231), obesity susceptibility, enpp1-related* (231), obesity susceptibility, ghrl-related* (231), obesity susceptibility, ucp1-related* (231), obesity* (104), osseus heteroplasia, progressive* (100), pseudohypoparathyroidism (73), fibrous dysplasia (59), mazabraud syndrome* (43), pituitary tumors (38), pituitary adenoma (26), hyperthyroidism (22), adenoma (20), precocious puberty (19), sagliker syndrome (18), ossifying fibroma (17), hyperphosphatemia (15), multinodular goiter (15), hypothyroidism, congenital, nongoitrous, 1 (15), villous adenoma (13), madelung deformity (13), hormone producing pituitary cancer (11), pancreatic intraductal papillary-mucinous neoplasm (11), endocrine gland cancer (10), osteitis fibrosa (10), primary pigmented nodular adrenocortical disease (10), tumor of exocrine pancreas (9), cholera (8), bone benign neoplasm (8), juxtacortical osteosarcoma (8), peripheral osteosarcoma (8), osteofibrous dysplasia (8), goiter (7), metal metabolism disorder (7), pituitary carcinoma (7), acrodysostosis (7), pilocytic astrocytoma of cerebellum (7), multiple endocrine neoplasia 1 (6), carney complex variant (6), antenatal bartter syndrome (6), connective tissue benign neoplasm (6), pituitary adenoma, prolactin-secreting (6), appendix cancer (6), phosphorus metabolism disease (5), multiple enchondromatosis, maffucci type (5), ovary serous adenocarcinoma (5), dowling-degos disease 1 (4), transverse colon cancer (4), colorectal cancer (4), cell type benign neoplasm (1), inherited metabolic disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 569.90 RPKM in Pituitary
Total median expression: 5536.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -151.80359-0.423 Picture PostScript Text
3' UTR -423.301454-0.291 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009434 - NESP55

Pfam Domains:
PF06390 - Neuroendocrine-specific golgi protein P55 (NESP55)

ModBase Predicted Comparative 3D Structure on O95467
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0007565 female pregnancy
GO:0009306 protein secretion
GO:0040015 negative regulation of multicellular organism growth
GO:0071107 response to parathyroid hormone

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030133 transport vesicle
GO:0031410 cytoplasmic vesicle
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF205101 - JP 2014500723-A/12604: Polycomb-Associated Non-Coding RNAs.
LF205103 - JP 2014500723-A/12606: Polycomb-Associated Non-Coding RNAs.
MA440678 - JP 2018138019-A/12604: Polycomb-Associated Non-Coding RNAs.
MA440680 - JP 2018138019-A/12606: Polycomb-Associated Non-Coding RNAs.
LF206049 - JP 2014500723-A/13552: Polycomb-Associated Non-Coding RNAs.
LF211874 - JP 2014500723-A/19377: Polycomb-Associated Non-Coding RNAs.
LF206050 - JP 2014500723-A/13553: Polycomb-Associated Non-Coding RNAs.
AK314549 - Homo sapiens cDNA, FLJ95373, Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.
BC036081 - Homo sapiens GNAS complex locus, mRNA (cDNA clone IMAGE:5302402), containing frame-shift errors.
AF105253 - Homo sapiens neuroendocrine secretory protein 55 mRNA, complete cds.
JD258080 - Sequence 239104 from Patent EP1572962.
JD566608 - Sequence 547632 from Patent EP1572962.
JD429019 - Sequence 410043 from Patent EP1572962.
LF350840 - JP 2014500723-A/158343: Polycomb-Associated Non-Coding RNAs.
JD222443 - Sequence 203467 from Patent EP1572962.
JD127413 - Sequence 108437 from Patent EP1572962.
JD445236 - Sequence 426260 from Patent EP1572962.
JD418863 - Sequence 399887 from Patent EP1572962.
LF350841 - JP 2014500723-A/158344: Polycomb-Associated Non-Coding RNAs.
LF350842 - JP 2014500723-A/158345: Polycomb-Associated Non-Coding RNAs.
AK315874 - Homo sapiens cDNA, FLJ79523 complete cds, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha.
AJ224867 - Homo sapiens mRNA for GNAS1 protein (IMAGE cDNA clone 359933 (827-k06)).
X56009 - Human GSA mRNA for alpha subunit of GsGTP binding protein.
AK026564 - Homo sapiens cDNA: FLJ22911 fis, clone KAT05860, highly similar to HSGSA2R Human mRNA for coupling protein G(s) alpha subunit (alpha-S2) (stimulatory regulatory component Gs of adenylyl cyclase).
AK225818 - Homo sapiens mRNA for guanine nucleotide binding protein, alpha stimulating activity polypeptide 1 isoform b variant, clone: FCC129A01.
BC089157 - Homo sapiens GNAS complex locus, mRNA (cDNA clone IMAGE:6647888), complete cds.
BC008855 - Homo sapiens GNAS complex locus, mRNA (cDNA clone IMAGE:4106768), complete cds.
BC108315 - Homo sapiens GNAS complex locus, mRNA (cDNA clone IMAGE:6092583), complete cds.
BC002722 - Homo sapiens GNAS complex locus, mRNA (cDNA clone IMAGE:3627815), complete cds.
BC104928 - Homo sapiens GNAS complex locus, mRNA (cDNA clone IMAGE:8143931), complete cds.
X04408 - Human mRNA for coupling protein G(s) alpha subunit (alpha-S2) (stimulatory regulatory component Gs of adenylyl cyclase).
X04409 - Human mRNA for coupling protein G(s) alpha-subunit (alpha-S1) (stimulatory regulatory component Gs of adenylyl cyclase).
X07036 - Human mRNA stimulatory GTP-binding protein alpha subunit.
AB385065 - Synthetic construct DNA, clone: pF1KB5212, Homo sapiens GNAS gene for guanine nucleotide-binding protein G, complete cds, without stop codon, in Flexi system.
EU832170 - Synthetic construct Homo sapiens clone HAIB:100067199; DKFZo008H0125 GNAS complex locus protein (GNAS) gene, encodes complete protein.
EU832264 - Synthetic construct Homo sapiens clone HAIB:100067293; DKFZo004H0126 GNAS complex locus protein (GNAS) gene, encodes complete protein.
CU678144 - Synthetic construct Homo sapiens gateway clone IMAGE:100017171 5' read GNAS mRNA.
CU679149 - Synthetic construct Homo sapiens gateway clone IMAGE:100017175 5' read GNAS mRNA.
KJ905761 - Synthetic construct Homo sapiens clone ccsbBroadEn_15431 GNAS gene, encodes complete protein.
HQ448266 - Synthetic construct Homo sapiens clone IMAGE:100071668; CCSB008993_02 GNAS complex locus (GNAS) gene, encodes complete protein.
KJ891258 - Synthetic construct Homo sapiens clone ccsbBroadEn_00652 GNAS gene, encodes complete protein.
KR710750 - Synthetic construct Homo sapiens clone CCSBHm_00016693 GNAS (GNAS) mRNA, encodes complete protein.
KR710751 - Synthetic construct Homo sapiens clone CCSBHm_00016697 GNAS (GNAS) mRNA, encodes complete protein.
KR710752 - Synthetic construct Homo sapiens clone CCSBHm_00016711 GNAS (GNAS) mRNA, encodes complete protein.
KR710753 - Synthetic construct Homo sapiens clone CCSBHm_00016735 GNAS (GNAS) mRNA, encodes complete protein.
KU178095 - Homo sapiens GNAS complex locus isoform 1 (GNAS) mRNA, partial cds.
KU178096 - Homo sapiens GNAS complex locus isoform 2 (GNAS) mRNA, partial cds, alternatively spliced.
BT009905 - Homo sapiens GNAS complex locus mRNA, complete cds.
AF064092 - Homo sapiens mutant guanine nucleotide-binding protein G(s), alpha subunit mRNA, complete cds.
AF088184 - Homo sapiens guanine nucleotide-binding protein Gs alpha subunit isoform L2 mRNA, complete cds.
AF493897 - Homo sapiens guanine nucleotide binding protein alpha s long (GNASL) mRNA, complete cds.
AF493898 - Homo sapiens guanine nucleotide binding protein alpha s short (GNASS) mRNA, complete cds.
BC066923 - Homo sapiens GNAS complex locus, mRNA (cDNA clone IMAGE:4814812), complete cds.
M14631 - Human guanine nucleotide-binding protein G-s, alpha subunit mRNA, partial cds.
AK315860 - Homo sapiens cDNA, FLJ79509 complete cds, highly similar to Guanine nucleotide-binding protein G(s)subunit alpha.
BC022875 - Homo sapiens, Similar to GNAS complex locus, clone IMAGE:4108909, mRNA, partial cds.
AK093534 - Homo sapiens cDNA FLJ36215 fis, clone THYMU2000684, highly similar to Guanine nucleotide-binding protein G-s-alpha-4.
M77026 - Homo sapiens adenyl cyclase mRNA.
LF350865 - JP 2014500723-A/158368: Polycomb-Associated Non-Coding RNAs.
AK054862 - Homo sapiens cDNA FLJ30300 fis, clone BRACE2003210, highly similar to GUANINE NUCLEOTIDE-BINDING PROTEIN G(S), ALPHA SUBUNIT.
JD407185 - Sequence 388209 from Patent EP1572962.
AK122771 - Homo sapiens cDNA FLJ16311 fis, clone SPLEN2010187, highly similar to GUANINE NUCLEOTIDE-BINDING PROTEIN G(S), ALPHA SUBUNIT.
JD053470 - Sequence 34494 from Patent EP1572962.
JD470183 - Sequence 451207 from Patent EP1572962.
LF350873 - JP 2014500723-A/158376: Polycomb-Associated Non-Coding RNAs.
JD222493 - Sequence 203517 from Patent EP1572962.
JD564227 - Sequence 545251 from Patent EP1572962.
JD346797 - Sequence 327821 from Patent EP1572962.
LF350875 - JP 2014500723-A/158378: Polycomb-Associated Non-Coding RNAs.
JD497214 - Sequence 478238 from Patent EP1572962.
JD024595 - Sequence 5619 from Patent EP1572962.
LF350876 - JP 2014500723-A/158379: Polycomb-Associated Non-Coding RNAs.
JD411168 - Sequence 392192 from Patent EP1572962.
LF350877 - JP 2014500723-A/158380: Polycomb-Associated Non-Coding RNAs.
AF088185 - Homo sapiens guanine nucleotide-binding protein Gs alpha subunit isoform L3 mRNA, complete cds.
JD185607 - Sequence 166631 from Patent EP1572962.
LF350878 - JP 2014500723-A/158381: Polycomb-Associated Non-Coding RNAs.
JD211591 - Sequence 192615 from Patent EP1572962.
LF350879 - JP 2014500723-A/158382: Polycomb-Associated Non-Coding RNAs.
JD347865 - Sequence 328889 from Patent EP1572962.
JD359538 - Sequence 340562 from Patent EP1572962.
JD389681 - Sequence 370705 from Patent EP1572962.
JD389682 - Sequence 370706 from Patent EP1572962.
LF350880 - JP 2014500723-A/158383: Polycomb-Associated Non-Coding RNAs.
JD303514 - Sequence 284538 from Patent EP1572962.
LF350881 - JP 2014500723-A/158384: Polycomb-Associated Non-Coding RNAs.
MA586417 - JP 2018138019-A/158343: Polycomb-Associated Non-Coding RNAs.
MA586418 - JP 2018138019-A/158344: Polycomb-Associated Non-Coding RNAs.
MA586419 - JP 2018138019-A/158345: Polycomb-Associated Non-Coding RNAs.
MA586442 - JP 2018138019-A/158368: Polycomb-Associated Non-Coding RNAs.
MA586450 - JP 2018138019-A/158376: Polycomb-Associated Non-Coding RNAs.
MA586452 - JP 2018138019-A/158378: Polycomb-Associated Non-Coding RNAs.
MA586453 - JP 2018138019-A/158379: Polycomb-Associated Non-Coding RNAs.
MA586454 - JP 2018138019-A/158380: Polycomb-Associated Non-Coding RNAs.
MA586455 - JP 2018138019-A/158381: Polycomb-Associated Non-Coding RNAs.
MA586456 - JP 2018138019-A/158382: Polycomb-Associated Non-Coding RNAs.
MA586457 - JP 2018138019-A/158383: Polycomb-Associated Non-Coding RNAs.
MA586458 - JP 2018138019-A/158384: Polycomb-Associated Non-Coding RNAs.
MA441626 - JP 2018138019-A/13552: Polycomb-Associated Non-Coding RNAs.
MA447451 - JP 2018138019-A/19377: Polycomb-Associated Non-Coding RNAs.
MA441627 - JP 2018138019-A/13553: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_chrebpPathway - ChREBP regulation by carbohydrates and cAMP
h_erkPathway - Erk1/Erk2 Mapk Signaling pathway
h_gcrPathway - Corticosteroids and cardioprotection
h_bArrestin-srcPathway - Roles of �-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling
h_bArrestinPathway - �-arrestins in GPCR Desensitization
h_raccPathway - Ion Channels and Their Functional Role in Vascular Endothelium
h_agpcrPathway - Attenuation of GPCR Signaling
h_barr-mapkPathway - Role of �-arrestins in the activation and targeting of MAP kinases
h_CCR3Pathway - CCR3 signaling in Eosinophils

-  Other Names for This Gene
  Alternate Gene Symbols: B2RB88, E1P5G2, ENST00000371075.1, ENST00000371075.2, ENST00000371075.3, ENST00000371075.4, ENST00000371075.5, ENST00000371075.6, GNAS , GNAS1 , GNAS3_HUMAN, NM_016592, O95417, O95467, uc318iwi.1, uc318iwi.2
UCSC ID: ENST00000371075.7_7
RefSeq Accession: NM_016592.5
Protein: O95467 (aka GNAS3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNAS:
gnas-dis (Disorders of GNAS Inactivation)
mccune-albright (Fibrous Dysplasia / McCune-Albright Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.