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Aliases for GNAS Gene

Aliases for GNAS Gene

  • GNAS Complex Locus 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity Polypeptide 1 2 3
  • Adenylate Cyclase-Stimulating G Alpha Protein 3 4
  • Alternative Gene Product Encoded By XL-Exon 3 4
  • Extra Large Alphas Protein 3 4
  • G Protein Subunit Alpha S 2 3
  • Secretogranin VI 2 3
  • GNAS1 3 4
  • GSP 3 4
  • Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas 3
  • Guanine Nucleotide Regulatory Protein 3
  • Neuroendocrine Secretory Protein 3
  • Protein SCG6 (Secretogranin VI) 3
  • Protein ALEX 3
  • Protein GNAS 3
  • C20orf45 3
  • XLalphas 4
  • NESP55 4
  • PITA3 3
  • GPSA 3
  • NESP 3
  • SCG6 3
  • SgVI 3
  • AHO 3
  • GSA 3
  • POH 3

External Ids for GNAS Gene

Previous HGNC Symbols for GNAS Gene

  • GNAS1

Previous GeneCards Identifiers for GNAS Gene

  • GC20P057143
  • GC20P057103
  • GC20P058053
  • GC20P058101
  • GC20P058102
  • GC20P056848
  • GC20P057414
  • GC20P054201

Summaries for GNAS Gene

Entrez Gene Summary for GNAS Gene

  • 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]

CIViC summary for GNAS Gene

GeneCards Summary for GNAS Gene

GNAS (GNAS Complex Locus) is a Protein Coding gene. Diseases associated with GNAS include Mccune-Albright Syndrome and Osseous Heteroplasia, Progressive. Among its related pathways are Akt Signaling and Ovarian steroidogenesis. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAL.

UniProtKB/Swiss-Prot for GNAS Gene

  • May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.

  • 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).

  • Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).

Tocris Summary for GNAS Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAS Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAS Gene

Genomics for GNAS Gene

GeneHancer (GH) Regulatory Elements for GNAS Gene

Promoters and enhancers for GNAS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J058887 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.2 +52.8 52838 9.3 SMAD1 MLX ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZBTB7B IRF4 GNAS PIEZO1P2 ENSG00000270279 ENSG00000227282 ANKRD60 LOC101927932 NELFCD PPP4R1L ENSG00000270951 GC20M058910
GH20J058839 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 650.7 -0.1 -106 0.3 CTCF KLF17 ZIC2 RAD21 HIC1 ZFHX2 GLIS2 ZNF366 PATZ1 VEZF1 GNAS ENSG00000268333 GNAS-AS1
GH20J058840 Enhancer 0.8 ENCODE dbSUPER 650.7 +0.9 937 0.4 ZBTB10 SUZ12 ZBTB8A HIC1 ZNF335 ZFHX2 ZBTB33 ZBTB26 EGR2 EZH2 ENSG00000276722 ENSG00000276859 GC20P058844 GNAS GNAS-AS1
GH20J059003 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.6 +166.3 166334 6.1 HDGF PKNOX1 SMAD1 ZFP64 DMAP1 IRF4 SLC30A9 ZNF207 ZNF143 SP5 CTSZ NELFCD ATP5F1E LOC101927932 GNAS PPP4R1L GC20M058985
GH20J059039 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 +202.5 202467 4.8 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 PRELID3B SLMO2-ATP5E NELFCD PPP4R1L ZNF831 LOC101927932 GNAS ENSG00000254419 ATP5F1E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNAS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNAS gene promoter:
  • AP-1

Genomic Locations for GNAS Gene

Genomic Locations for GNAS Gene
chr20:58,839,718-58,911,195
(GRCh38/hg38)
Size:
71,478 bases
Orientation:
Plus strand
chr20:57,414,773-57,486,250
(GRCh37/hg19)
Size:
71,478 bases
Orientation:
Plus strand

Genomic View for GNAS Gene

Genes around GNAS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAS Gene

Proteins for GNAS Gene

  • Protein details for GNAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JWF2-GNAS1_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
    Protein Accession:
    Q5JWF2
    Secondary Accessions:
    • A2A2S3
    • E1P5G3
    • O75684
    • O75685
    • Q5JW67
    • Q5JWF1
    • Q9NY42

    Protein attributes for GNAS Gene

    Size:
    1037 amino acids
    Molecular mass:
    111025 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts through its N-terminal region with ALEX which is produced from the same locus in a different open reading frame. This interaction may inhibit its adenylyl cyclase-stimulating activity (By similarity). Interacts with MAGED2 (PubMed:27120771).
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
    • 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.
    SequenceCaution:
    • Sequence=CAB83215.1; Type=Frameshift; Positions=40; Evidence={ECO:0000305}; Sequence=CAM28315.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for GNAS Gene

  • Protein details for GNAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P84996-ALEX_HUMAN
    Recommended name:
    Protein ALEX
    Protein Accession:
    P84996
    Secondary Accessions:
    • A2A2S4

    Protein attributes for GNAS Gene

    Size:
    626 amino acids
    Molecular mass:
    67948 Da
    Quaternary structure:
    • Interacts with the N-terminal region of the XLas isoforms of guanine nucleotide-binding protein G(s) subunit alpha.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces guanine nucleotide-binding protein G(s) subunit alpha from an overlapping reading frame.
  • Protein details for GNAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63092-GNAS2_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
    Protein Accession:
    P63092
    Secondary Accessions:
    • A6NI00
    • E1P5G5
    • P04895
    • Q12927
    • Q14433
    • Q32P26
    • Q5JWD2
    • Q5JWD4
    • Q5JWD5
    • Q6NR75
    • Q6NXS0
    • Q8TBC0
    • Q96H70

    Protein attributes for GNAS Gene

    Size:
    394 amino acids
    Molecular mass:
    45665 Da
    Quaternary structure:
    • Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with CRY1; the interaction may block GPCR-mediated regulation of cAMP concentrations (PubMed:20852621). Interacts with ADCY5 and stimulates its adenylyl cyclase activity (PubMed:17110384, PubMed:26206488). Interacts with ADCY6 and stimulates its adenylyl cyclase activity (PubMed:17110384). Interacts with ADCY2 (By similarity).
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
    • 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.

    Three dimensional structures from OCA and Proteopedia for GNAS Gene

    Alternative splice isoforms for GNAS Gene

  • Protein details for GNAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95467-GNAS3_HUMAN
    Recommended name:
    Neuroendocrine secretory protein 55
    Protein Accession:
    O95467
    Secondary Accessions:
    • B2RB88
    • E1P5G2
    • O95417

    Protein attributes for GNAS Gene

    Size:
    245 amino acids
    Molecular mass:
    28029 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
    • 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.

    Alternative splice isoforms for GNAS Gene

neXtProt entry for GNAS Gene

Post-translational modifications for GNAS Gene

  • Binds keratan sulfate chains.
  • May be proteolytically processed to give rise to a number of active peptides.
  • Ubiquitination at Lys73, isoforms=3, 4, 2300, and isoforms=3, 4, 28
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser174 and isoforms=160

No data available for DME Specific Peptides for GNAS Gene

Domains & Families for GNAS Gene

Gene Families for GNAS Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P84996

UniProtKB/Swiss-Prot:

GNAS3_HUMAN :
  • Belongs to the ALEX family.
Family:
  • Belongs to the ALEX family.
  • Belongs to the G-alpha family. G(s) subfamily.
  • Belongs to the NESP55 family.
genes like me logo Genes that share domains with GNAS: view

Function for GNAS Gene

Molecular function for GNAS Gene

UniProtKB/Swiss-Prot Function:
May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.
UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).

Phenotypes From GWAS Catalog for GNAS Gene

Gene Ontology (GO) - Molecular Function for GNAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA --
GO:0003674 molecular_function ND --
GO:0003924 GTPase activity IEA,IBA --
GO:0004871 obsolete signal transducer activity IEA --
GO:0005159 insulin-like growth factor receptor binding IBA --
genes like me logo Genes that share ontologies with GNAS: view
genes like me logo Genes that share phenotypes with GNAS: view

Human Phenotype Ontology for GNAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAS Gene

MGI Knock Outs for GNAS:

Animal Model Products

CRISPR Products

miRNA for GNAS Gene

miRTarBase miRNAs that target GNAS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAS

Clone Products

  • Addgene plasmids for GNAS

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAS Gene

Localization for GNAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAS Gene

Cell membrane; Peripheral membrane protein. Apical cell membrane.
Cell membrane; Peripheral membrane protein. Cell projection, ruffle. Note=Predominantly associated with cell membrane ruffles. {ECO:0000250}.
Cell membrane; Lipid-anchor.
Cytoplasmic vesicle, secretory vesicle. Secreted. Note=Neuroendocrine secretory granules. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAS gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
golgi apparatus 5
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol ISS,IDA --
genes like me logo Genes that share ontologies with GNAS: view

Pathways & Interactions for GNAS Gene

genes like me logo Genes that share pathways with GNAS: view

SIGNOR curated interactions for GNAS Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001894 tissue homeostasis IEA --
GO:0001958 endochondral ossification IEA --
GO:0003091 renal water homeostasis TAS --
GO:0006112 energy reserve metabolic process IEA --
genes like me logo Genes that share ontologies with GNAS: view

Drugs & Compounds for GNAS Gene

(37) Drugs for GNAS Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dobutamine Approved Pharma Partial agonist, Agonist 130
Guanine Experimental Pharma 0
2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE Experimental Pharma Target 0
Colforsin Experimental, Investigational Pharma Target 3
Guanosine diphosphate Experimental Pharma 0

(26) Additional Compounds for GNAS Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • kerato 6'-Sulfate
69992-87-6
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1

(5) Tocris Compounds for GNAS Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAS: view

Transcripts for GNAS Gene

Unigene Clusters for GNAS Gene

GNAS complex locus:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAS

Clone Products

  • Addgene plasmids for GNAS

Alternative Splicing Database (ASD) splice patterns (SP) for GNAS Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^
SP1: - - - - - - - - - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - -
SP6:
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - -
SP9: - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - - - - - -
SP14:
SP15: - - - - - - - - - - - - -
SP16: - -
SP17:
SP18: - - - - - - - - - - - - - -
SP19:
SP20: - - - - - - -
SP21: - - - -
SP22:

ExUns: 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - -
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for GNAS Gene

GeneLoc Exon Structure for
GNAS
ECgene alternative splicing isoforms for
GNAS

Expression for GNAS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNAS Gene

This gene is overexpressed in Pituitary (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNAS Gene



Protein tissue co-expression partners for GNAS Gene

NURSA nuclear receptor signaling pathways regulating expression of GNAS Gene:

GNAS

SOURCE GeneReport for Unigene cluster for GNAS Gene:

Hs.125898

Evidence on tissue expression from TISSUES for GNAS Gene

  • Pancreas(5)
  • Nervous system(5)
  • Liver(4.8)
  • Muscle(4.8)
  • Bone(4.7)
  • Intestine(4.7)
  • Lung(4.7)
  • Eye(4.6)
  • Bone marrow(4.5)
  • Kidney(4.5)
  • Stomach(4.5)
  • Skin(4.4)
  • Blood(4)
  • Thyroid gland(3.9)
  • Adrenal gland(3.5)
  • Heart(3.4)
  • Gall bladder(3)
  • Lymph node(2.8)
  • Spleen(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GNAS: view

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GNAS Gene

Orthologs for GNAS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNAS 34 33
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GNAS 34 33
  • 92.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GNAS 34 33
  • 92.27 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gnas 16 34 33
  • 84.13 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Gnas 33
  • 83.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 48 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
-- 34
  • 43 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 88 (a)
ManyToMany
GNAS 33
  • 76.87 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gnas 33
  • 76.6 (n)
Str.5971 33
zebrafish
(Danio rerio)
Actinopterygii gnal 34
  • 76 (a)
ManyToMany
gnas 33
  • 73.53 (n)
si:ch211-207c7.2 34
  • 37 (a)
ManyToMany
gna15.4 34
  • 31 (a)
ManyToMany
BX569798.1 34
  • 30 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta G-salpha60A 34 35 33
  • 64.19 (n)
OneToMany
Galpha73B 35
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta GNAS_ANOGA 33
  • 63.96 (n)
worm
(Caenorhabditis elegans)
Secernentea gsa-1 34 35 33
  • 64.48 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA1 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
OneToMany
Cin.1818 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1818 33
Species where no ortholog for GNAS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAS Gene

ENSEMBL:
Gene Tree for GNAS (if available)
TreeFam:
Gene Tree for GNAS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNAS: view image

Paralogs for GNAS Gene

Paralogs for GNAS Gene

(19) SIMAP similar genes for GNAS Gene using alignment to 16 proteins:

  • ALEX_HUMAN
  • GNAS1_HUMAN
  • GNAS2_HUMAN
  • GNAS3_HUMAN
  • A2A2R6_HUMAN
  • A2A2S1_HUMAN
  • B0AZR9_HUMAN
  • H0UI78_HUMAN
  • H0Y7E8_HUMAN
  • H0Y7F4_HUMAN
  • H0Y7Z6_HUMAN
  • Q5FWY2_HUMAN
  • Q5JWD1_HUMAN
  • Q5JWE9_HUMAN
  • S4R3E3_HUMAN
  • S4R3V9_HUMAN

Pseudogenes.org Pseudogenes for GNAS Gene

genes like me logo Genes that share paralogs with GNAS: view

Variants for GNAS Gene

Sequence variations from dbSNP and Humsavar for GNAS Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1057518907 pathogenic, Brachydactyly syndrome, Cognitive impairment, Hypocalcemia, Obesity, Round face, Short stature, Subcutaneous nodule, Tetany 58,891,811(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant
rs11554273 pathogenic, likely-pathogenic, PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC, Polyostotic fibrous dysplasia, somatic, mosaic, Cushing's syndrome, McCune-Albright syndrome, Sex cord-stromal tumor, Neoplasm, Squamous cell carcinoma of the head and neck, Hepatocellular carcinoma, Colorectal Neoplasms, Pancreatic adenocarcinoma, Adenocarcinoma of lung, Uterine cervical neoplasms, Neoplasm of the breast, Adrenocortical carcinoma, Adenocarcinoma of stomach, Malignant melanoma of skin, PITUITARY ADENOMA 3, MULTIPLE TYPES, McCune-Albright syndrome (MAS) [MIM:174800], McCune-Albright syndrome (MAS) [MIM:174800], ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] 58,909,365(+) C/A/G/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs121913494 pathogenic, likely-pathogenic, PITUITARY ADENOMA 3, MULTIPLE TYPES, McCune-Albright syndrome, Neoplasm 58,909,541(+) A/G/T 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs121913495 pathogenic, likely-pathogenic, McCune-Albright syndrome, Cushing's syndrome, Sex cord-stromal tumor, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach, Adrenocortical carcinoma, Colorectal Neoplasms, Hepatocellular carcinoma, Pancreatic adenocarcinoma, Neoplasm, Malignant melanoma of skin, Uterine cervical neoplasms, Adenocarcinoma of lung, Neoplasm of the breast, PITUITARY ADENOMA 3, MULTIPLE TYPES, ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080], McCune-Albright syndrome (MAS) [MIM:174800], Non-MAS endocrine tumors 58,909,366(+) G/A/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs137854530 pathogenic, likely-pathogenic, Pseudohypoparathyroidism type 1A, not provided 58,891,727(+) A/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, initiator_codon_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GNAS Gene

Variant ID Type Subtype PubMed ID
dgv7625n54 CNV loss 21841781
dgv7626n54 CNV gain 21841781
dgv7627n54 CNV gain 21841781
esv27992 CNV loss 19812545
nsv1072551 CNV deletion 25765185
nsv1133509 CNV deletion 24896259
nsv459031 CNV loss 19166990
nsv459032 CNV loss 19166990
nsv473736 CNV novel sequence insertion 20440878
nsv474420 CNV novel sequence insertion 20440878
nsv586352 CNV loss 21841781
nsv586353 CNV loss 21841781
nsv586358 CNV gain 21841781
nsv586367 CNV loss 21841781
nsv828763 CNV loss 20364138

Variation tolerance for GNAS Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.64; 56.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNAS Gene

Human Gene Mutation Database (HGMD)
GNAS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAS Gene

Disorders for GNAS Gene

MalaCards: The human disease database

(74) MalaCards diseases for GNAS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards