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Gnas Gene Detail
Summary
  • Symbol
    Gnas
  • Name
    GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus
  • Synonyms
    Galphas, G alpha s, Gnas1, Gnasxl, Gsa, Gs alpha, Gs-alpha, Nesp, Nesp55, Nespl, neuroendocrine-specific Golgi protein p55 isoform 1, Oedsml, P1, P2, P3, SCG6, XLalphas
  • Feature Type
    protein coding gene
  • IDs
    MGI:95777
    NCBI Gene: 14683
  • Gene Overview
    MyGene.info: GNAS
Location & Maps
more
  • Sequence Map
    Chr2:174284320-174346744 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      62425 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 97.89 cM, cytoband E1-H3
  • Mapping Data
    40 experiments
Homology
more
  • Human Ortholog
    GNAS, GNAS complex locus
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GNAS, GNAS complex locus
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, POH, SCG6, SgVI
  • Links
    NCBI Gene ID: 2778

  • Chr Location
    20q13.3; chr20:58839740-58911195 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 55534
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: GNAS
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Gnas mouse models; 8 with human GNAS associations

Human Disease Mouse Models
       Pseudohypoparathyroidism, Type IA; PHP1A   OMIM: 103580 View 1 model
Pseudopseudohypoparathyroidism; PPHP   OMIM: 612463 View 1 model
       Schizophrenia; SCZD   OMIM: 181500 View 1 model
       Acth-Independent Macronodular Adrenal Hyperplasia; AIMAH1   OMIM: 219080
McCune-Albright Syndrome; MAS   OMIM: 174800
Osseous Heteroplasia, Progressive; POH   OMIM: 166350
Pituitary Adenoma, Growth Hormone-Secreting, 1; PAGH1   OMIM: 102200
Pseudohypoparathyroidism, Type IB; PHP1B   OMIM: 603233
Pseudohypoparathyroidism, Type Ic; PHP1C   OMIM: 612462
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    150 phenotypes from 18 alleles in 27 genetic backgrounds
    5 phenotypes from multigenic genotypes
    6 images
    71 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    32
  • Chemically induced (ENU)
    1
  • Gene trapped
    10
  • Targeted
    20
  • Transgenic
    1
  • Genomic Mutations
    1 involving Gnas
  • Incidental Mutations
Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016388 VEGA Gene Model | MGI Sequence Detail 62425 C57BL/6J ±  kb
transcript OTTMUST00000039462 VEGA | MGI Sequence Detail 3519 Not Applicable  
polypeptide OTTMUSP00000017632 VEGA | MGI Sequence Detail 1133 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    283 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000029511 GNAS gene translation product
  • InterPro Domains
    IPR000367 G-protein alpha subunit, group S
    IPR011025 G protein alpha subunit, helical insertion
    IPR001019 Guanine nucleotide binding protein (G-protein), alpha subunit
    IPR009434 Neuroendocrine secretory protein 55
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
less
  • All nucleic 55
    Genomic 4
    cDNA 44
    Primer pair 5
    Other 2

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-10189, MGD-MRK-10282, MGI:1336163, MGI:1336215, MGI:1918608, MGI:1925540, MGI:1931436, MGI:2183280, MGI:2442318
References
more
  • Summaries
    All 178
    Developmental Gene Expression 21
    Diseases 4
    Gene Ontology 20
    Phenotypes 71
  • Earliest
    J:8410 Sullivan KA, et al., Inhibitory and stimulatory G proteins of adenylate cyclase: cDNA and amino acid sequences of the alpha chains. Proc Natl Acad Sci U S A. 1986 Sep;83(18):6687-91
  • Latest
    J:233851 Zhu Y, et al., Ablation of the Stimulatory G Protein alpha-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D. Endocrinology. 2016 Feb;157(2):497-507

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory