Gnas MGI Mouse Gene Detail - MGI:95777

Symbol

Gnas
Name

GNAS complex locus
Synonyms

G alpha s, Galphas, 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
Alliance

gene page
Transcription Start Sites

63 TSS

Sequence Map

Chr2:174126113-174188537 bp, + strand
From NCBI annotation of GRCm39
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

1987 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	Chr2:174126113-174188537 (+)
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

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GNAS, GNAS complex locus
Synonyms

AHO, AIMAH1, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI
Links

HGNC:4392

NCBI Gene ID: 2778

UniProt: O95467, P63092, P84996, Q5JWF2
Chr Location

20q13.32; chr20:58839718-58911192 (+) GRCh38

MGI Vertebrate Homology

Gnas stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GNAS
Gene Tree

Gnas

Diseases

4 with Gnas mouse models; 12 with human GNAS associations

Human Disease

Mouse Models

pseudohypoparathyroidism

IDs

View 2 models

pseudohypoparathyroidism type 1A

IDs

View 2 models

pseudopseudohypoparathyroidism

IDs

View 1 model

schizophrenia

IDs

View 1 model

ACTH-independent macronodular adrenal hyperplasia 1

IDs

cholangiocarcinoma

IDs

hypertension

IDs

McCune Albright syndrome

IDs

obesity

IDs

pituitary adenoma 3

IDs

progressive osseous heteroplasia

IDs

pseudohypoparathyroidism type 1B

IDs

pseudohypoparathyroidism type 1C

IDs

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

Mutations/Alleles

4 with disease annotations

References

4 with disease annotations

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Phenotype Summary

210 phenotypes from 18 alleles in 32 genetic backgrounds
8 phenotypes from multigenic genotypes
6 images
126 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	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

36
Chemically induced (ENU)

1
Endonuclease-mediated

3
Gene trapped

7
Targeted

24
Transgenic

1
Genomic Mutations

1 involving Gnas
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

53 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

141
GO References

32

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

819
Tissues

65
cDNA Data

38
Literature Summary

31

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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All Sequences

211
RefSeq

39
UniProt

19
CCDS

CCDS17149.1, CCDS17150.1, CCDS17151.1, CCDS38354.1, CCDS38355.1, CCDS38356.1, CCDS38357.1, CCDS50817.1, CCDS89590.1, CCDS89591.1

Ensembl

ENSMUSG00000027523 (Evidence)
NCBI Gene

14683

			Length	Strain/Species	Flank
genomic	14683	NCBI Gene Model \| MGI Sequence Detail	62425	C57BL/6J	± kb
transcript	NM_001310083	RefSeq \| MGI Sequence Detail	3921	ZRU/MplStud
polypeptide	Q6R0H7	UniProt \| EBI \| MGI Sequence Detail	1133	Not Applicable

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UniProt

19 Sequences
Protein Ontology

PR:000029511 GNAS gene translation product

(term hierarchy)
PDB

7XW5
EC

3.6.5.-
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
GlyGen

Q6R0H7 6 sites, 1 O-linked glycan (1 site)

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All nucleic 63

Genomic 4

cDNA 46

Primer pair 10

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 272

Developmental Gene Expression 31

Diseases 4

Gene Ontology 32

Phenotypes 126
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:366442 Tsisanova E, et al., The ric-8b protein (resistance to inhibitors of cholinesterase 8b) is key to preserving contractile function in the adult heart. J Biol Chem. 2024 Jul;300(7):107470

TSS for Gnas:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr789	Chr2:174126021-174126030 (+)	-87 bp
Tssr790	Chr2:174126061-174126086 (+)	-39 bp
Tssr22087	Chr2:174126105-174126119 (+)	-1 bp
Tssr22088	Chr2:174126403-174126418 (+)	298 bp
Tssr22089	Chr2:174127066-174127077 (+)	959 bp
Tssr22090	Chr2:174127090-174127112 (+)	988 bp
Tssr22091	Chr2:174127145-174127157 (+)	1,038 bp
Tssr22092	Chr2:174131269-174131291 (+)	5,167 bp
Tssr22093	Chr2:174131294-174131309 (+)	5,189 bp
Tssr22094	Chr2:174131317-174131328 (+)	5,210 bp
Tssr22095	Chr2:174131337-174131375 (+)	5,243 bp
Tssr22096	Chr2:174131412-174131431 (+)	5,309 bp
Tssr22097	Chr2:174131436-174131470 (+)	5,340 bp
Tssr22098	Chr2:174131471-174131480 (+)	5,363 bp
Tssr22099	Chr2:174131577-174131649 (+)	5,500 bp
Tssr22100	Chr2:174131669-174131692 (+)	5,568 bp
Tssr22101	Chr2:174131708-174131814 (+)	5,648 bp
Tssr22103	Chr2:174137405-174137424 (+)	11,302 bp
Tssr22104	Chr2:174139120-174139146 (+)	13,020 bp
Tssr22105	Chr2:174140522-174140534 (+)	14,415 bp
Tssr22106	Chr2:174140714-174140731 (+)	14,610 bp
Tssr22107	Chr2:174144055-174144060 (+)	17,945 bp
Tssr22108	Chr2:174145902-174145905 (+)	19,791 bp
Tssr22109	Chr2:174146114-174146120 (+)	20,004 bp
Tssr22110	Chr2:174146127-174146141 (+)	20,021 bp
Tssr22111	Chr2:174146150-174146153 (+)	20,039 bp
Tssr22112	Chr2:174146154-174146165 (+)	20,047 bp
Tssr22113	Chr2:174146347-174146354 (+)	20,238 bp
Tssr22114	Chr2:174146355-174146364 (+)	20,247 bp
Tssr22115	Chr2:174146368-174146369 (+)	20,256 bp
Tssr22116	Chr2:174146394-174146399 (+)	20,284 bp
Tssr22117	Chr2:174146520-174146523 (+)	20,409 bp
Tssr22118	Chr2:174146548-174146551 (+)	20,437 bp
Tssr22119	Chr2:174150106-174150128 (+)	24,004 bp
Tssr22120	Chr2:174150238-174150315 (+)	24,164 bp
Tssr22121	Chr2:174151809-174151813 (+)	25,698 bp
Tssr22122	Chr2:174169351-174169368 (+)	43,247 bp
Tssr22123	Chr2:174169519-174169522 (+)	43,408 bp
Tssr22124	Chr2:174169540-174169556 (+)	43,435 bp
Tssr22125	Chr2:174169993-174170004 (+)	43,886 bp
Tssr22126	Chr2:174171155-174171204 (+)	45,067 bp
Tssr22127	Chr2:174171776-174171787 (+)	45,669 bp
Tssr22128	Chr2:174171805-174171840 (+)	45,710 bp
Tssr22129	Chr2:174171841-174171852 (+)	45,734 bp
Tssr22130	Chr2:174171860-174171891 (+)	45,763 bp
Tssr22131	Chr2:174171904-174171919 (+)	45,799 bp
Tssr22132	Chr2:174171979-174171990 (+)	45,872 bp
Tssr22133	Chr2:174178534-174178557 (+)	52,433 bp
Tssr791	Chr2:174181123-174181147 (+)	55,022 bp
Tssr22134	Chr2:174183604-174183661 (+)	57,520 bp
Tssr22135	Chr2:174185020-174185058 (+)	58,926 bp
Tssr22136	Chr2:174186172-174186196 (+)	60,071 bp
Tssr22137	Chr2:174187185-174187244 (+)	61,102 bp
Tssr22138	Chr2:174187281-174187309 (+)	61,182 bp
Tssr22139	Chr2:174187793-174187826 (+)	61,697 bp
Tssr22140	Chr2:174188047-174188107 (+)	61,964 bp
Tssr22141	Chr2:174188110-174188126 (+)	62,005 bp
Tssr792	Chr2:174188127-174188143 (+)	62,022 bp
Tssr22142	Chr2:174188150-174188163 (+)	62,044 bp
Tssr22143	Chr2:174188245-174188308 (+)	62,164 bp
Tssr22144	Chr2:174188360-174188373 (+)	62,254 bp
Tssr22145	Chr2:174188389-174188394 (+)	62,279 bp
Tssr22146	Chr2:174188395-174188431 (+)	62,300 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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