Gnaq MGI Mouse Gene Detail - MGI:95776 - guanine nucleotide binding protein, alpha q polypeptide

Symbol

Gnaq
Name

guanine nucleotide binding protein, alpha q polypeptide
Synonyms

1110005L02Rik, 6230401I02Rik, Dsk1, Dsk10, G alpha q, Galphaq, Gq, GqI

Feature Type

protein coding gene
IDs

MGI:95776
NCBI Gene: 14682
Alliance

gene page
Transcription Start Sites

31 TSS

Sequence Map

Chr19:16110195-16364827 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 11.01 cM
Mapping Data

6 experiments

SNPs within 2kb

6346 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95776	protein coding gene	Chr19:16110048-16365884 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024958	protein coding gene	Chr19:13841129-14115382 (+)
A/J	MGP_AJ_G0024935	protein coding gene	Chr19:13047287-13304437 (+)
AKR/J	MGP_AKRJ_G0024905	protein coding gene	Chr19:13587304-13854709 (+)
BALB/cJ	MGP_BALBcJ_G0024934	protein coding gene	Chr19:13090705-13347423 (+)
C3H/HeJ	MGP_C3HHeJ_G0024692	protein coding gene	Chr19:13537105-13793735 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025376	protein coding gene	Chr19:14405272-14681932 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022795	protein coding gene	Chr19:13508644-13755692 (+)
CAST/EiJ	MGP_CASTEiJ_G0024160	protein coding gene	Chr19:13109622-13375900 (+)
CBA/J	MGP_CBAJ_G0024670	protein coding gene	Chr19:14840100-15124234 (+)
DBA/2J	MGP_DBA2J_G0024802	protein coding gene	Chr19:13088252-13345000 (+)
FVB/NJ	MGP_FVBNJ_G0024763	protein coding gene	Chr19:13017274-13267776 (+)
LP/J	MGP_LPJ_G0024886	protein coding gene	Chr19:13850236-14117642 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024790	protein coding gene	Chr19:14803065-15061011 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025431	protein coding gene	Chr19:13506795-13770812 (+)
PWK/PhJ	MGP_PWKPhJ_G0023909	protein coding gene	Chr19:12629235-12882051 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023714	protein coding gene	Chr19:12802227-13073644 (+)
WSB/EiJ	MGP_WSBEiJ_G0024228	protein coding gene	Chr19:13529901-13793663 (+)

Human Ortholog

GNAQ, G protein subunit alpha q

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GNAQ, G protein subunit alpha q
Synonyms

CMAL, CMC1, G-ALPHA-q, GAQ, SWS
Links

HGNC:4390

NCBI Gene ID: 2776

neXtProt AC: NX_P50148

UniProt: P50148
Chr Location

9q21.2; chr9:77716097-78031811 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: GNAQ
Gene Tree

Gnaq

Diseases

2 with Gnaq mouse models; 3 with human GNAQ associations

Human Disease

Mouse Models

congestive heart failure

IDs

View 2 models

dilated cardiomyopathy

IDs

View 3 models

familial multiple nevi flammei

IDs

Sturge-Weber syndrome

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

68 phenotypes from 11 alleles in 10 genetic backgrounds
87 phenotypes from multigenic genotypes
1 images
147 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

18
Chemically induced (ENU)

3
Endonuclease-mediated

2
Gene trapped

1
Targeted

6
Transgenic

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutant mice exhibit pigmentation anomalies affecting the ears, tail and footpads.

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All GO Annotations

81
GO References

36

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

791
Tissues

54
cDNA Data

18
Literature Summary

17

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gnaq

ZFIN gnaq

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All Sequences

43
RefSeq

2
UniProt

2
CCDS

CCDS29684.1

Ensembl

ENSMUSG00000024639 (Evidence)
NCBI Gene

14682

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024639	Ensembl Gene Model \| MGI Sequence Detail	254633	C57BL/6J	± kb
transcript	ENSMUST00000025541	Ensembl \| MGI Sequence Detail	5644	Not Applicable
polypeptide	ENSMUSP00000025541	Ensembl \| MGI Sequence Detail	359	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000008090 guanine nucleotide-binding protein G(q) subunit alpha

(term hierarchy)
PDB

2BCJ, 2RGN, 3AH8, 4EKC, 4EKD, 4GNK, 4QJ3, 4QJ4, 4QJ5, 5DO9, 7SQ2
EC

3.6.5.-
InterPro Domains

IPR000654 G-protein alpha subunit, group Q

IPR011025 G protein alpha subunit, helical insertion

IPR001019 Guanine nucleotide binding protein (G-protein), alpha subunit

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

P21279 1 site, 1 O-linked glycan (1 site)

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All nucleic 23

cDNA 18

Primer pair 3

Other 2

Microarray probesets 9

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MGD-MRK-10188, MGI:1915032, MGI:1919038, MGI:2147433, MGI:2147701, MGI:2450681, MGI:2450695

Summaries

All 252

Developmental Gene Expression 17

Diseases 4

Gene Ontology 36

Phenotypes 147
Earliest

J:43412 Strathmann M, et al., G protein diversity: a distinct class of alpha subunits is present in vertebrates and invertebrates. Proc Natl Acad Sci U S A. 1990 Dec;87(23):9113-7
Latest

J:345823 Izquierdo-Villalba I, et al., A mammalian-specific Alex3/Galpha(q) protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival. Sci Signal. 2024 Feb 6;17(822):eabq1007

TSS for Gnaq:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr155379	Chr19:16110026-16110085 (+)	-139 bp
Tssr155380	Chr19:16110110-16110137 (+)	-71 bp
Tssr155381	Chr19:16110138-16110159 (+)	-46 bp
Tssr155382	Chr19:16110176-16110274 (+)	30 bp
Tssr155383	Chr19:16110486-16110509 (+)	303 bp
Tssr155384	Chr19:16110665-16110692 (+)	484 bp
Tssr155385	Chr19:16118446-16118447 (+)	8,252 bp
Tssr155386	Chr19:16123450-16123464 (+)	13,262 bp
Tssr155387	Chr19:16126440-16126476 (+)	16,263 bp
Tssr155388	Chr19:16136096-16136139 (+)	25,923 bp
Tssr155389	Chr19:16202555-16202562 (+)	92,364 bp
Tssr155390	Chr19:16204318-16204328 (+)	94,128 bp
Tssr155391	Chr19:16293126-16293139 (+)	182,938 bp
Tssr155392	Chr19:16295416-16295442 (+)	185,234 bp
Tssr155393	Chr19:16295774-16295793 (+)	185,589 bp
Tssr155394	Chr19:16297898-16297917 (+)	187,713 bp
Tssr155395	Chr19:16305990-16306001 (+)	195,801 bp
Tssr155396	Chr19:16326887-16326901 (+)	216,699 bp
Tssr155397	Chr19:16326910-16326929 (+)	216,725 bp
Tssr155398	Chr19:16326977-16326994 (+)	216,791 bp
Tssr155399	Chr19:16336665-16336684 (+)	226,480 bp
Tssr155400	Chr19:16360979-16360994 (+)	250,792 bp
Tssr155401	Chr19:16361654-16361666 (+)	251,465 bp
Tssr155402	Chr19:16362219-16362235 (+)	252,032 bp
Tssr155403	Chr19:16363043-16363058 (+)	252,856 bp
Tssr155404	Chr19:16363102-16363116 (+)	252,914 bp
Tssr155405	Chr19:16363155-16363170 (+)	252,968 bp
Tssr155406	Chr19:16363229-16363239 (+)	253,039 bp
Tssr155407	Chr19:16363288-16363308 (+)	253,103 bp
Tssr155408	Chr19:16363315-16363331 (+)	253,128 bp
Tssr155409	Chr19:16364595-16364631 (+)	254,418 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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