Gnas MGI Mouse Gene Detail - MGI:95777 - GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus

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
Alliance

gene page
Transcription Start Sites

31 TSS

Sequence Map

Chr2:174284320-174346744 bp, + strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 97.89 cM, cytoband E1-H3
Mapping Data

40 experiments

SNPs within 2kb

283 from dbSNP Build 142
Strain Annotations

18
PCR

2
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95777	protein coding gene	Chr2:174284306-174346744 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026964	protein coding gene	Chr2:180630364-180692546 (+)
A/J	MGP_AJ_G0026931	protein coding gene	Chr2:173019243-173082750 (+)
AKR/J	MGP_AKRJ_G0026902	protein coding gene	Chr2:178234685-178297274 (+)
BALB/cJ	MGP_BALBcJ_G0026940	protein coding gene	Chr2:173409894-173473065 (+)
C3H/HeJ	MGP_C3HHeJ_G0026682	protein coding gene	Chr2:178612042-178677336 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027387	protein coding gene	Chr2:185827607-185897724 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024756	protein coding gene	Chr2:166260882-166324606 (+)
CAST/EiJ	MGP_CASTEiJ_G0026141	protein coding gene	Chr2:179339358-179404333 (+)
CBA/J	MGP_CBAJ_G0026659	protein coding gene	Chr2:192746722-192811366 (+)
DBA/2J	MGP_DBA2J_G0026797	protein coding gene	Chr2:172119457-172184108 (+)
FVB/NJ	MGP_FVBNJ_G0026763	protein coding gene	Chr2:170742405-170805441 (+)
LP/J	MGP_LPJ_G0026898	protein coding gene	Chr2:180540747-180606553 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026782	protein coding gene	Chr2:195644796-195711054 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027444	protein coding gene	Chr2:178258034-178322320 (+)
PWK/PhJ	MGP_PWKPhJ_G0025877	protein coding gene	Chr2:171927066-171991286 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025677	protein coding gene	Chr2:177300546-177364210 (+)
WSB/EiJ	MGP_WSBEiJ_G0026213	protein coding gene	Chr2:179221635-179288390 (+)

Human Ortholog

GNAS, GNAS complex locus

Vertebrate Orthologs

10

Human Ortholog

GNAS, GNAS complex locus
Orthology source: HomoloGene, HGNC
Synonyms

AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI
Links

HGNC:4392

NCBI Gene ID: 2778

neXtProt AC: NX_O95467, NX_P63092, NX_P84996, NX_Q5JWF2

UniProt: O95467, P63092, P84996, Q5JWF2
Chr Location

20q13.32; chr20:58839681-58911196 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 55534
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: GNAS
Gene Tree

Gnas

Diseases

4 with Gnas mouse models; 4 with human GNAS associations

Human Disease

Mouse Models

Albright's hereditary osteodystrophy

IDs

View 2 models

pseudohypoparathyroidism

IDs

View 1 model

pseudopseudohypoparathyroidism

IDs

View 1 model

schizophrenia

IDs

View 1 model

McCune Albright syndrome

IDs

View 2 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

6 with disease annotations

References

5 with disease annotations

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Phenotype Summary

173 phenotypes from 18 alleles in 30 genetic backgrounds
22 phenotypes from multigenic genotypes
6 images
89 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

37
Chemically induced (ENU)

1
Gene trapped

10
Targeted

23
Transgenic

3
Genomic Mutations

1 involving Gnas
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

112
GO References

23

External Resources

FuncBase

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

78
Tissues

57
cDNA Data

37
Literature Summary

26

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gnas

ZFIN gnas

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Gnas interacts with 240 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

190
RefSeq

37
UniProt

12
CCDS

CCDS17149.1, CCDS17150.1, CCDS17151.1, CCDS38354.1, CCDS38355.1, CCDS38356.1, CCDS38357.1, CCDS50817.1

Ensembl

ENSMUSG00000027523 (Evidence)
NCBI Gene

14683

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027523	Ensembl Gene Model \| MGI Sequence Detail	62425	C57BL/6J	± kb
transcript	ENSMUST00000080493	Ensembl \| MGI Sequence Detail	3519	Not Applicable
polypeptide	ENSMUSP00000079341	Ensembl \| MGI Sequence Detail	1133	Not Applicable

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UniProt

12 Sequences
Protein Ontology

PR:000029511 GNAS gene translation product

(term hierarchy)
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

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All nucleic 58

Genomic 4

cDNA 45

Primer pair 6

Other 3

Microarray probesets 7

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MGD-MRK-10189, MGD-MRK-10282, MGI:1336163, MGI:1336215, MGI:1918608, MGI:1925540, MGI:1931436, MGI:2183280, MGI:2442318

Summaries

All 216

Developmental Gene Expression 26

Diseases 5

Gene Ontology 23

Phenotypes 89
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:268740 Patra KC, et al., Mutant GNAS drives pancreatic tumourigenesis by inducing PKA-mediated SIK suppression and reprogramming lipid metabolism. Nat Cell Biol. 2018 Jul;20(7):811-822

TSS for Gnas:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr789	Chr2:174284228-174284237 (+)	-87 bp
Tssr790	Chr2:174284268-174284293 (+)	-39 bp
Tssr22087	Chr2:174284312-174284326 (+)	-1 bp
Tssr22089	Chr2:174285273-174285284 (+)	959 bp
Tssr22090	Chr2:174285297-174285319 (+)	988 bp
Tssr22091	Chr2:174285352-174285364 (+)	1,038 bp
Tssr22105	Chr2:174298729-174298741 (+)	14,415 bp
Tssr22106	Chr2:174298921-174298938 (+)	14,610 bp
Tssr22122	Chr2:174327558-174327575 (+)	43,247 bp
Tssr22123	Chr2:174327726-174327729 (+)	43,408 bp
Tssr22124	Chr2:174327747-174327763 (+)	43,435 bp
Tssr22125	Chr2:174328200-174328211 (+)	43,886 bp
Tssr22127	Chr2:174329983-174329994 (+)	45,669 bp
Tssr22128	Chr2:174330012-174330047 (+)	45,710 bp
Tssr22129	Chr2:174330048-174330059 (+)	45,734 bp
Tssr22130	Chr2:174330067-174330098 (+)	45,763 bp
Tssr22131	Chr2:174330111-174330126 (+)	45,799 bp
Tssr22132	Chr2:174330186-174330197 (+)	45,872 bp
Tssr22133	Chr2:174336741-174336764 (+)	52,433 bp
Tssr22136	Chr2:174344379-174344403 (+)	60,071 bp
Tssr22137	Chr2:174345392-174345451 (+)	61,102 bp
Tssr22138	Chr2:174345488-174345516 (+)	61,182 bp
Tssr22139	Chr2:174346000-174346033 (+)	61,697 bp
Tssr22140	Chr2:174346254-174346314 (+)	61,964 bp
Tssr22141	Chr2:174346317-174346333 (+)	62,005 bp
Tssr792	Chr2:174346334-174346350 (+)	62,022 bp
Tssr22142	Chr2:174346357-174346370 (+)	62,044 bp
Tssr22143	Chr2:174346452-174346515 (+)	62,164 bp
Tssr22144	Chr2:174346567-174346580 (+)	62,254 bp
Tssr22145	Chr2:174346596-174346601 (+)	62,279 bp
Tssr22146	Chr2:174346602-174346638 (+)	62,300 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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