GNAQ (G protein subunit alpha q) - Rat Genome Database

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Gene: GNAQ (G protein subunit alpha q) Homo sapiens
Analyze
Symbol: GNAQ
Name: G protein subunit alpha q
RGD ID: 731425
HGNC Page HGNC:4390
Description: Enables GTPase activator activity. Involved in negative regulation of protein kinase activity; protein stabilization; and regulation of canonical Wnt signaling pathway. Located in extracellular exosome and lysosomal membrane. Implicated in Sturge-Weber syndrome; congestive heart failure; and familial multiple nevi flammei. Biomarker of lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMC1; G-ALPHA-q; GAQ; guanine nucleotide binding protein (G protein), q polypeptide; guanine nucleotide-binding protein alpha-q; guanine nucleotide-binding protein G(q) subunit alpha; heterotrimeric guanine nucleotide-binding protein alpha q subunit; SWS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GNAQP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38977,716,097 - 78,031,811 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl977,716,097 - 78,031,811 (-)EnsemblGRCh38hg38GRCh38
GRCh37980,331,013 - 80,646,727 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36979,525,009 - 79,836,012 (-)NCBINCBI36Build 36hg18NCBI36
Build 34977,564,746 - 77,875,746NCBI
Celera950,912,294 - 51,223,287 (-)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef950,167,421 - 50,477,535 (-)NCBIHuRef
CHM1_1980,482,435 - 80,793,672 (-)NCBICHM1_1
T2T-CHM13v2.0989,873,050 - 90,188,930 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
2-nitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-vinylcyclohexene dioxide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
aluminium atom  (ISO)
aluminium(0)  (ISO)
ammonium chloride  (ISO)
apocynin  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bromochloroacetic acid  (ISO)
caffeine  (ISO)
carbamazepine  (EXP)
cerium trichloride  (ISO)
chlorpyrifos  (ISO)
cicaprost  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (ISO)
cyproterone acetate  (EXP)
D-glucose  (ISO)
diazinon  (ISO)
diclofenac  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fingolimod hydrochloride  (EXP)
fluoxetine  (ISO)
folic acid  (ISO)
fulvestrant  (ISO)
gadolinium atom  (ISO)
glucose  (ISO)
hexane  (ISO)
hydrogen cyanide  (ISO)
hydrogen sulfide  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (EXP)
methyl methanesulfonate  (EXP)
N-ethyl-N-nitrosourea  (ISO)
nickel dichloride  (ISO)
omipalisib  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
potassium chromate  (EXP)
sodium fluoride  (ISO)
sphingosine 1-phosphate  (EXP)
streptozocin  (ISO)
strontium atom  (ISO)
succimer  (ISO)
tamibarotene  (EXP)
theophylline  (ISO)
trametinib  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tyrphostin AG 1478  (ISO)
urethane  (EXP)
UTP  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
action potential  (IBA,ISO)
activation of phospholipase C activity  (ISO,TAS)
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IBA,ISO)
adenylate cyclase-modulating G protein-coupled receptor signaling pathway  (IBA)
blood coagulation  (TAS)
blood coagulation  (TAS)
cranial skeletal system development  (ISO)
developmental pigmentation  (ISO)
embryonic digit morphogenesis  (ISO)
endothelin receptor signaling pathway  (ISO)
entrainment of circadian clock  (ISS)
forebrain neuron development  (ISO)
G protein-coupled acetylcholine receptor signaling pathway  (ISS)
G protein-coupled receptor signaling pathway  (IEA,ISO)
glutamate receptor signaling pathway  (IBA,ISO)
heart development  (ISO)
ion channel modulating, G protein-coupled receptor signaling pathway  (ISO)
ligand-gated ion channel signaling pathway  (ISO)
maternal behavior  (ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of potassium ion transport  (ISO)
negative regulation of protein kinase activity  (IMP)
neuron remodeling  (ISO)
phospholipase C-activating dopamine receptor signaling pathway  (IBA,ISO)
phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway  (ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (ISO)
phototransduction, visible light  (ISS)
positive regulation of insulin secretion  (ISO)
positive regulation of smooth muscle cell proliferation  (ISO)
post-embryonic development  (ISO)
protein stabilization  (IMP)
regulation of blood pressure  (ISO)
regulation of canonical Wnt signaling pathway  (IMP)
regulation of melanocyte differentiation  (ISO)
regulation of platelet activation  (ISS)
signal transduction  (IEA)
skeletal system development  (ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal choroid morphology  (IAGP)
Abnormal cranial nerve morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal visual accommodation  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of the upper limb  (IAGP)
Arachnoid hemangiomatosis  (IAGP)
Arrhythmia  (IAGP)
Arteriovenous malformation  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blindness  (IAGP)
Buphthalmos  (IAGP)
Capillary hemangioma  (IAGP)
Capillary malformation  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chiari malformation  (IAGP)
Choroidal hemangioma  (IAGP)
Choroidal melanoma  (IAGP)
Ciliary body melanoma  (IAGP)
Conjunctival telangiectasia  (IAGP)
Corneal dystrophy  (IAGP)
Dysphagia  (IAGP)
Edema  (IAGP)
Facial hemangioma  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Hearing abnormality  (IAGP)
Hemangiomatosis  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Heterochromia iridis  (IAGP)
Hydrocephalus  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperostosis  (IAGP)
Hyperreflexia  (IAGP)
Inferior lens subluxation  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Intellectual disability  (IAGP)
Intracranial hemorrhage  (IAGP)
Iris coloboma  (IAGP)
Iris melanoma  (IAGP)
Lower limb asymmetry  (IAGP)
Macrocephaly  (IAGP)
Melanoma  (IAGP)
Metamorphopsia  (IAGP)
Mydriasis  (IAGP)
Neoplasm of the lung  (IAGP)
Neurological speech impairment  (IAGP)
Nevus flammeus  (IAGP)
Ocular hypertension  (IAGP)
Ocular pain  (IAGP)
Optic atrophy  (IAGP)
Papule  (IAGP)
Photopsia  (IAGP)
Pulmonary embolism  (IAGP)
Retinal detachment  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Skin ulcer  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Uveal melanoma  (IAGP)
Venous insufficiency  (IAGP)
Venous thrombosis  (IAGP)
Visceral angiomatosis  (IAGP)
Visual loss  (IAGP)
Vitreous hemorrhage  (IAGP)
Zonular cataract  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Molecular properties of muscarinic acetylcholine receptors. Haga T Proc Jpn Acad Ser B Phys Biol Sci. 2013;89(6):226-56.
3. Science review: Vasopressin and the cardiovascular system part 1--receptor physiology. Holmes CL, etal., Crit Care. 2003 Dec;7(6):427-34. Epub 2003 Jun 26.
4. Pleiotropic AT1 receptor signaling pathways mediating physiological and pathogenic actions of angiotensin II. Hunyady L and Catt KJ, Mol Endocrinol. 2006 May;20(5):953-70. Epub 2005 Sep 1.
5. A functional polymorphism of the Galphaq (GNAQ) gene is associated with accelerated mortality in African-American heart failure. Liggett SB, etal., Hum Mol Genet. 2007 Nov 15;16(22):2740-50. doi: 10.1093/hmg/ddm229. Epub 2007 Aug 24.
6. Transient cardiac expression of constitutively active Galphaq leads to hypertrophy and dilated cardiomyopathy by calcineurin-dependent and independent pathways. Mende U, etal., Proc Natl Acad Sci U S A. 1998 Nov 10;95(23):13893-8.
7. Discovery of new membrane-associated proteins overexpressed in small-cell lung cancer. Ocak S, etal., J Thorac Oncol. 2014 Mar;9(3):324-36. doi: 10.1097/JTO.0000000000000090.
8. Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice. Offermanns S, etal., EMBO J 1998 Aug 3;17(15):4304-12.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Regulation of phosphoinositide-specific phospholipase C. Rhee SG Annu Rev Biochem. 2001;70:281-312.
16. Orexin receptor type-1 couples exclusively to pertussis toxin-insensitive G-proteins, while orexin receptor type-2 couples to both pertussis toxin-sensitive and -insensitive G-proteins. Zhu Y, etal., J Pharmacol Sci. 2003 Jul;92(3):259-66.
Additional References at PubMed
PMID:1322796   PMID:1333286   PMID:1851174   PMID:2841328   PMID:7492305   PMID:7629074   PMID:7791744   PMID:7937899   PMID:8188646   PMID:8227063   PMID:8504751   PMID:8552586  
PMID:8655576   PMID:8664309   PMID:8825633   PMID:8836152   PMID:8863838   PMID:8923415   PMID:8982657   PMID:9061052   PMID:9152406   PMID:9175863   PMID:9198220   PMID:9238049  
PMID:9405622   PMID:9481484   PMID:9488690   PMID:9660808   PMID:9685625   PMID:9700850   PMID:9770463   PMID:10318854   PMID:10446129   PMID:10488065   PMID:10550060   PMID:10567430  
PMID:10598591   PMID:10633085   PMID:10727532   PMID:10728414   PMID:11076863   PMID:11118617   PMID:11194358   PMID:11253162   PMID:11278452   PMID:11375483   PMID:11408001   PMID:11443126  
PMID:11686331   PMID:11753430   PMID:11812005   PMID:11848441   PMID:11875076   PMID:11895442   PMID:11916537   PMID:11955952   PMID:11981043   PMID:12016230   PMID:12130679   PMID:12193606  
PMID:12399457   PMID:12477932   PMID:12496284   PMID:12509430   PMID:12626493   PMID:12629551   PMID:12650852   PMID:12652642   PMID:12670932   PMID:12670961   PMID:12704201   PMID:12711604  
PMID:12714438   PMID:12726995   PMID:12748287   PMID:12807915   PMID:12885252   PMID:14561750   PMID:14617636   PMID:14634662   PMID:14702039   PMID:15115661   PMID:15134434   PMID:15251452  
PMID:15322542   PMID:15383626   PMID:15466861   PMID:15471870   PMID:15489336   PMID:15611106   PMID:15694379   PMID:15698833   PMID:15735747   PMID:15782186   PMID:15794946   PMID:16038796  
PMID:16102047   PMID:16218966   PMID:16381901   PMID:16481068   PMID:16629901   PMID:16650966   PMID:16754659   PMID:16860758   PMID:16893886   PMID:16995904   PMID:17197445   PMID:17255364  
PMID:17307333   PMID:17498700   PMID:17535809   PMID:17552882   PMID:17606614   PMID:17846866   PMID:17897319   PMID:18096806   PMID:18240029   PMID:18322150   PMID:18326504   PMID:18424071  
PMID:18434368   PMID:18514160   PMID:18577758   PMID:18632858   PMID:18672896   PMID:18719078   PMID:18772143   PMID:18851832   PMID:18936096   PMID:18989526   PMID:18991294   PMID:19056867  
PMID:19074439   PMID:19074441   PMID:19078957   PMID:19199708   PMID:19332487   PMID:19390533   PMID:19426503   PMID:19445628   PMID:19551532   PMID:19654573   PMID:19718445   PMID:19903011  
PMID:19936769   PMID:20007712   PMID:20133939   PMID:20237586   PMID:20379146   PMID:20399743   PMID:20562673   PMID:20590159   PMID:20631239   PMID:20664004   PMID:20714830   PMID:20805136  
PMID:20865267   PMID:21056896   PMID:21072599   PMID:21083380   PMID:21125662   PMID:21304157   PMID:21366456   PMID:21464134   PMID:21487925   PMID:21515378   PMID:21592972   PMID:21873635  
PMID:21923740   PMID:21940795   PMID:21945171   PMID:21988832   PMID:22056876   PMID:22253748   PMID:22307269   PMID:22701657   PMID:22710260   PMID:22750945   PMID:22758774   PMID:22905097  
PMID:22939629   PMID:22940628   PMID:22977135   PMID:23066026   PMID:23159116   PMID:23315865   PMID:23353685   PMID:23376485   PMID:23533145   PMID:23572068   PMID:23572156   PMID:23599145  
PMID:23634288   PMID:23656586   PMID:23665327   PMID:23685997   PMID:23778528   PMID:23884432   PMID:23962128   PMID:23993961   PMID:23994616   PMID:24141786   PMID:24299002   PMID:24470488  
PMID:24595385   PMID:24882515   PMID:24927141   PMID:24970262   PMID:25280020   PMID:25304237   PMID:25316767   PMID:25363280   PMID:25374402   PMID:25420509   PMID:25433904   PMID:25653058  
PMID:25659154   PMID:25695059   PMID:25732870   PMID:25955651   PMID:26186194   PMID:26192947   PMID:26344197   PMID:26368812   PMID:26399561   PMID:26496610   PMID:26746047   PMID:26775782  
PMID:26778290   PMID:26823487   PMID:26859074   PMID:26865629   PMID:26887939   PMID:27058448   PMID:27089234   PMID:27265506   PMID:27330078   PMID:27498141   PMID:27566546   PMID:27919468  
PMID:28083870   PMID:28084343   PMID:28148497   PMID:28197018   PMID:28248732   PMID:28350126   PMID:28363951   PMID:28369206   PMID:28422819   PMID:28444874   PMID:28486107   PMID:28514442  
PMID:28571101   PMID:28584054   PMID:28700778   PMID:28705934   PMID:28809862   PMID:28842497   PMID:28854843   PMID:28982892   PMID:29059311   PMID:29107092   PMID:29117863   PMID:29209985  
PMID:29332123   PMID:29509190   PMID:29570931   PMID:29574926   PMID:29853161   PMID:29878304   PMID:29925530   PMID:29975248   PMID:29977933   PMID:30112971   PMID:30204251   PMID:30278445  
PMID:30315589   PMID:30321592   PMID:30327411   PMID:30352874   PMID:30422215   PMID:30442662   PMID:30446620   PMID:30537484   PMID:30552676   PMID:30558566   PMID:30639242   PMID:30654308  
PMID:30773340   PMID:30783010   PMID:30870248   PMID:30890659   PMID:31173078   PMID:31189994   PMID:31533929   PMID:31580399   PMID:31586073   PMID:31614358   PMID:31692010   PMID:31726051  
PMID:31906951   PMID:32064597   PMID:32126208   PMID:32420639   PMID:33003441   PMID:33361125   PMID:33550208   PMID:33568347   PMID:33639168   PMID:33707187   PMID:33807071   PMID:33845483  
PMID:33961781   PMID:34086670   PMID:34133934   PMID:34293268   PMID:34670408   PMID:34709727   PMID:35132089   PMID:35139144   PMID:35212356   PMID:35271311   PMID:35580369   PMID:35635655  
PMID:35676659   PMID:35997986   PMID:36440997  


Genomics

Comparative Map Data
GNAQ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38977,716,097 - 78,031,811 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl977,716,097 - 78,031,811 (-)EnsemblGRCh38hg38GRCh38
GRCh37980,331,013 - 80,646,727 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36979,525,009 - 79,836,012 (-)NCBINCBI36Build 36hg18NCBI36
Build 34977,564,746 - 77,875,746NCBI
Celera950,912,294 - 51,223,287 (-)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef950,167,421 - 50,477,535 (-)NCBIHuRef
CHM1_1980,482,435 - 80,793,672 (-)NCBICHM1_1
T2T-CHM13v2.0989,873,050 - 90,188,930 (-)NCBIT2T-CHM13v2.0
Gnaq
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391916,110,048 - 16,365,884 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1916,110,195 - 16,364,827 (+)EnsemblGRCm39 Ensembl
GRCm381916,132,684 - 16,388,520 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1916,132,831 - 16,387,463 (+)EnsemblGRCm38mm10GRCm38
MGSCv371916,207,321 - 16,461,943 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361916,199,850 - 16,454,472 (+)NCBIMGSCv36mm8
MGSCv361915,738,354 - 16,003,046 (+)NCBIMGSCv36mm8
Celera1916,873,630 - 17,041,492 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map1911.01NCBI
Gnaq
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21213,425,631 - 213,671,947 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1213,424,465 - 213,667,672 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1221,757,414 - 222,003,643 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01228,689,512 - 228,935,809 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01221,511,974 - 221,758,205 (+)NCBIRnor_WKY
Rnor_6.01233,382,778 - 233,622,584 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1233,382,708 - 233,622,786 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01240,497,178 - 240,736,860 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41219,520,998 - 219,764,401 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11219,685,020 - 219,928,420 (+)NCBI
Celera1210,763,138 - 211,002,668 (+)NCBICelera
Cytogenetic Map1q43NCBI
Gnaq
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555121,381,159 - 1,658,409 (+)NCBIChiLan1.0ChiLan1.0
GNAQ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1976,570,773 - 76,773,847 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl976,575,815 - 76,773,849 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0946,816,409 - 47,129,116 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GNAQ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1180,733,530 - 80,928,065 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl180,715,366 - 80,928,065 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha181,197,285 - 81,391,732 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0181,038,541 - 81,345,574 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl181,038,966 - 81,343,028 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1180,931,602 - 81,126,112 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0180,652,980 - 80,847,487 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0181,383,410 - 81,578,003 (+)NCBIUU_Cfam_GSD_1.0
LOC101971998
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947127,896,936 - 128,074,513 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650313,099,558 - 13,276,152 (-)EnsemblSpeTri2.0
SpeTri2.0NW_00493650313,098,517 - 13,276,106 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNAQ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1230,605,265 - 230,907,674 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11230,607,469 - 230,906,988 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21257,372,859 - 257,378,851 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GNAQ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11288,666,375 - 88,988,989 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1288,670,424 - 88,871,154 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603876,997,006 - 77,320,682 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gnaq
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248115,163,793 - 5,486,140 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248115,158,665 - 5,485,812 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GNAQ
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002072.5(GNAQ):c.627A>T (p.Gln209His) single nucleotide variant Familial multiple nevi flammei [RCV001526533]|not provided [RCV002254353] Chr9:77794571 [GRCh38]
Chr9:80409487 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) single nucleotide variant Angioosteohypertrophic syndrome [RCV001526638]|Capillary malformation [RCV000043593]|Capillary malformation [RCV000533476]|Familial multiple nevi flammei [RCV002294003]|Hemangiomatosis [RCV001526543]|Segmental undergrowth associated with capillary malformation [RCV001705695]|Sturge-Weber syndrome [RCV000043592]|not provided [RCV002254275] Chr9:77797577 [GRCh38]
Chr9:80412493 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic|other
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1 copy number loss See cases [RCV000052907] Chr9:73706686..80370629 [GRCh38]
Chr9:76321602..82985544 [GRCh37]
Chr9:75511422..82175364 [NCBI36]
Chr9:9q21.13-21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002072.4(GNAQ):c.321+25032A>C single nucleotide variant Lung cancer [RCV000108401] Chr9:77897129 [GRCh38]
Chr9:80512045 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.4(GNAQ):c.137-804A>G single nucleotide variant Lung cancer [RCV000108402] Chr9:77923149 [GRCh38]
Chr9:80538065 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1 copy number loss See cases [RCV000134378] Chr9:77828133..77845836 [GRCh38]
Chr9:80443049..80460752 [GRCh37]
Chr9:79632869..79650572 [NCBI36]
Chr9:9q21.2		 benign
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1 copy number loss See cases [RCV000140595] Chr9:77531690..78300187 [GRCh38]
Chr9:80146606..80915103 [GRCh37]
Chr9:79336426..80104923 [NCBI36]
Chr9:9q21.2		 likely pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002072.5(GNAQ):c.735+1G>T single nucleotide variant not provided [RCV001766941] Chr9:77794462 [GRCh38]
Chr9:80409378 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002072.5(GNAQ):c.625_626delinsTT (p.Gln209Leu) indel Uveal melanoma [RCV000441114] Chr9:77794572..77794573 [GRCh38]
Chr9:80409488..80409489 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) single nucleotide variant Abnormality of cardiovascular system morphology [RCV001327979]|Melanoma [RCV000442822] Chr9:77794572 [GRCh38]
Chr9:80409488 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) single nucleotide variant Melanoma [RCV000425312]|Uveal melanoma [RCV000436033] Chr9:77794572 [GRCh38]
Chr9:80409488 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) single nucleotide variant Melanoma [RCV000426416]|Uveal melanoma [RCV000436244] Chr9:77794572 [GRCh38]
Chr9:80409488 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
GRCh37/hg19 9q21.2(chr9:80322373-80644551)x1 copy number loss See cases [RCV000447820] Chr9:80322373..80644551 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31		 pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_002072.5(GNAQ):c.-382G>A single nucleotide variant not provided [RCV001611960] Chr9:78031617 [GRCh38]
Chr9:80646533 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.548G>T (p.Arg183Leu) single nucleotide variant Segmental undergrowth associated with capillary malformation [RCV001706748] Chr9:77797577 [GRCh38]
Chr9:80412493 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_002072.5(GNAQ):c.525G>A (p.Thr175=) single nucleotide variant not provided [RCV000914634] Chr9:77797600 [GRCh38]
Chr9:80412516 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.705T>C (p.Tyr235=) single nucleotide variant not provided [RCV000898582] Chr9:77794493 [GRCh38]
Chr9:80409409 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.330A>G (p.Ala110=) single nucleotide variant not provided [RCV000924589] Chr9:77815762 [GRCh38]
Chr9:80430678 [GRCh37]
Chr9:9q21.2		 likely benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
NM_002072.5(GNAQ):c.736-18dup duplication not provided [RCV000947185]|not specified [RCV001701369] Chr9:77728671..77728672 [GRCh38]
Chr9:80343587..80343588 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.736-18_736-17dup duplication not provided [RCV000950175]|not specified [RCV001528697] Chr9:77728671..77728672 [GRCh38]
Chr9:80343587..80343588 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.136+8C>T single nucleotide variant not provided [RCV000942352] Chr9:78031092 [GRCh38]
Chr9:80646008 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.1017T>C (p.Phe339=) single nucleotide variant not provided [RCV000920130] Chr9:77721386 [GRCh38]
Chr9:80336302 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.162G>A (p.Thr54=) single nucleotide variant not provided [RCV000914474] Chr9:77922320 [GRCh38]
Chr9:80537236 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.13-21.31(chr9:78672613-83349616)x1 copy number loss not provided [RCV000848555] Chr9:78672613..83349616 [GRCh37]
Chr9:9q21.13-21.31		 uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_002072.5(GNAQ):c.735+34T>C single nucleotide variant not provided [RCV001620623] Chr9:77794429 [GRCh38]
Chr9:80409345 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.322-116G>T single nucleotide variant not provided [RCV001647788] Chr9:77815886 [GRCh38]
Chr9:80430802 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.890-5G>A single nucleotide variant not provided [RCV000909075] Chr9:77721518 [GRCh38]
Chr9:80336434 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.736-5del deletion not provided [RCV000956724]|not specified [RCV001701260] Chr9:77728672 [GRCh38]
Chr9:80343588 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.388G>A (p.Asp130Asn) single nucleotide variant not provided [RCV000912112] Chr9:77815704 [GRCh38]
Chr9:80430620 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.143G>T (p.Gly48Val) single nucleotide variant not provided [RCV002254468] Chr9:77922339 [GRCh38]
Chr9:80537255 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_002072.5(GNAQ):c.136+181CA[17] microsatellite not provided [RCV001695984] Chr9:78030887..78030888 [GRCh38]
Chr9:80645803..80645804 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.136+181CA[19] microsatellite not provided [RCV001689229] Chr9:78030887..78030888 [GRCh38]
Chr9:80645803..80645804 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.136+181CA[12] microsatellite not provided [RCV001621180] Chr9:78030888..78030895 [GRCh38]
Chr9:80645804..80645811 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.735+241G>C single nucleotide variant not provided [RCV001708429] Chr9:77794222 [GRCh38]
Chr9:80409138 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.606-304C>T single nucleotide variant not provided [RCV001693529] Chr9:77794896 [GRCh38]
Chr9:80409812 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.136+181CA[15] microsatellite not provided [RCV001680366] Chr9:78030888..78030889 [GRCh38]
Chr9:80645804..80645805 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.-387G>A single nucleotide variant not provided [RCV001669652] Chr9:78031622 [GRCh38]
Chr9:80646538 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.136+181CA[18] microsatellite not provided [RCV001671721] Chr9:78030887..78030888 [GRCh38]
Chr9:80645803..80645804 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.2(chr9:80410512-80877566)x3 copy number gain not provided [RCV001258440] Chr9:80410512..80877566 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.5(GNAQ):c.627A>C (p.Gln209His) single nucleotide variant Familial multiple nevi flammei [RCV001526532]|not provided [RCV002254352] Chr9:77794571 [GRCh38]
Chr9:80409487 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.2(chr9:80322373-80644551) copy number loss not specified [RCV002053859] Chr9:80322373..80644551 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NC_000009.11:g.(?_79792621)_(80944002_?)del deletion Neu-Laxova syndrome 2 [RCV001953529] Chr9:79792621..80944002 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_002072.5(GNAQ):c.765T>C (p.Phe255=) single nucleotide variant not provided [RCV002111705] Chr9:77728638 [GRCh38]
Chr9:80343554 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.255G>C (p.Thr85=) single nucleotide variant not provided [RCV002109344] Chr9:77922227 [GRCh38]
Chr9:80537143 [GRCh37]
Chr9:9q21.2		 benign
NM_002072.5(GNAQ):c.402T>C (p.Ser134=) single nucleotide variant not provided [RCV002172198] Chr9:77815690 [GRCh38]
Chr9:80430606 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.1029C>T (p.Ala343=) single nucleotide variant not provided [RCV002164044] Chr9:77721374 [GRCh38]
Chr9:80336290 [GRCh37]
Chr9:9q21.2		 likely benign
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9q21.2(chr9:80582026-80948266)x3 copy number gain not provided [RCV002474803] Chr9:80582026..80948266 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.5(GNAQ):c.303C>A (p.Tyr101Ter) single nucleotide variant Lung cancer [RCV002465267] Chr9:77922179 [GRCh38]
Chr9:80537095 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_002072.5(GNAQ):c.897G>C (p.Gln299His) single nucleotide variant Inborn genetic diseases [RCV002738970] Chr9:77721506 [GRCh38]
Chr9:80336422 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.5(GNAQ):c.322-13T>C single nucleotide variant not provided [RCV002781511] Chr9:77815783 [GRCh38]
Chr9:80430699 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.862C>A (p.Leu288Ile) single nucleotide variant Inborn genetic diseases [RCV002854472] Chr9:77728541 [GRCh38]
Chr9:80343457 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.5(GNAQ):c.230A>G (p.Lys77Arg) single nucleotide variant Inborn genetic diseases [RCV002934701] Chr9:77922252 [GRCh38]
Chr9:80537168 [GRCh37]
Chr9:9q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2314
Count of miRNA genes:993
Interacting mature miRNAs:1212
Transcripts:ENST00000286548, ENST00000397476, ENST00000411677
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D9S1123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,424,873 - 80,425,240UniSTSGRCh37
Build 36979,614,693 - 79,615,060RGDNCBI36
Celera951,001,963 - 51,002,330RGD
Cytogenetic Map9q13-q22UniSTS
Cytogenetic Map9q21UniSTS
HuRef950,255,803 - 50,256,170UniSTS
Marshfield Genetic Map977.56UniSTS
Marshfield Genetic Map977.56RGD
deCODE Assembly Map975.81UniSTS
Whitehead-RH Map9308.8UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9719.3UniSTS
RH68862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,427,387 - 80,427,514UniSTSGRCh37
Build 36979,617,207 - 79,617,334RGDNCBI36
Celera951,004,477 - 51,004,604RGD
Cytogenetic Map9q21UniSTS
HuRef950,258,312 - 50,258,439UniSTS
GeneMap99-GB4 RH Map9267.54UniSTS
NCBI RH Map9741.5UniSTS
SHGC-58639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,399,899 - 80,400,009UniSTSGRCh37
Build 36979,589,719 - 79,589,829RGDNCBI36
Celera950,976,989 - 50,977,099RGD
Cytogenetic Map9q21UniSTS
HuRef950,230,982 - 50,231,092UniSTS
TNG Radiation Hybrid Map927360.0UniSTS
G62798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,465,437 - 80,465,709UniSTSGRCh37
Build 36979,655,257 - 79,655,529RGDNCBI36
Celera951,042,525 - 51,042,797RGD
Cytogenetic Map9q21UniSTS
HuRef950,296,375 - 50,296,647UniSTS
TNG Radiation Hybrid Map927334.0UniSTS
SHGC-132278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,424,924 - 80,425,201UniSTSGRCh37
Build 36979,614,744 - 79,615,021RGDNCBI36
Celera951,002,014 - 51,002,291RGD
Cytogenetic Map9q21UniSTS
HuRef950,255,854 - 50,256,131UniSTS
TNG Radiation Hybrid Map927346.0UniSTS
SHGC-143088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,343,506 - 80,343,783UniSTSGRCh37
Build 36979,533,326 - 79,533,603RGDNCBI36
Celera950,920,607 - 50,920,885RGD
Cytogenetic Map9q21UniSTS
HuRef950,175,731 - 50,176,009UniSTS
TNG Radiation Hybrid Map927461.0UniSTS
SHGC-147581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,495,277 - 80,495,598UniSTSGRCh37
Build 36979,685,097 - 79,685,418RGDNCBI36
Celera951,072,368 - 51,072,690RGD
Cytogenetic Map9q21UniSTS
HuRef950,326,189 - 50,326,511UniSTS
TNG Radiation Hybrid Map927297.0UniSTS
WI-11656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,449,490 - 80,449,590UniSTSGRCh37
Build 36979,639,310 - 79,639,410RGDNCBI36
Celera951,026,577 - 51,026,677RGD
Cytogenetic Map9q21UniSTS
HuRef950,280,424 - 50,280,524UniSTS
GeneMap99-GB4 RH Map9266.01UniSTS
Whitehead-RH Map9308.8UniSTS
NCBI RH Map9719.3UniSTS
SHGC-56723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,506,165 - 80,506,400UniSTSGRCh37
Build 36979,695,985 - 79,696,220RGDNCBI36
Celera951,083,234 - 51,083,469RGD
Cytogenetic Map9q21UniSTS
HuRef950,337,058 - 50,337,293UniSTS
TNG Radiation Hybrid Map927306.0UniSTS
SHGC-85075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,334,882 - 80,335,152UniSTSGRCh37
GRCh372132,180,008 - 132,180,278UniSTSGRCh37
Build 362131,896,478 - 131,896,748RGDNCBI36
Celera2125,902,669 - 125,902,939RGD
Celera950,911,987 - 50,912,257UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21UniSTS
HuRef950,167,114 - 50,167,384UniSTS
HuRef2124,174,149 - 124,174,419UniSTS
TNG Radiation Hybrid Map927428.0UniSTS
RH69769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,616,533 - 80,616,711UniSTSGRCh37
Build 36979,806,353 - 79,806,531RGDNCBI36
Celera951,193,630 - 51,193,808RGD
Cytogenetic Map9q21UniSTS
HuRef950,447,851 - 50,448,029UniSTS
GeneMap99-GB4 RH Map9266.01UniSTS
NCBI RH Map9741.5UniSTS
STS-AA029953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,493,211 - 80,493,459UniSTSGRCh37
Build 36979,683,031 - 79,683,279RGDNCBI36
Celera951,070,302 - 51,070,550RGD
Cytogenetic Map9q21UniSTS
HuRef950,324,153 - 50,324,401UniSTS
GeneMap99-GB4 RH Map9266.32UniSTS
RH47080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,504,684 - 80,504,850UniSTSGRCh37
Build 36979,694,504 - 79,694,670RGDNCBI36
Celera951,081,753 - 51,081,919RGD
Cytogenetic Map9q21UniSTS
HuRef950,335,577 - 50,335,743UniSTS
GeneMap99-GB4 RH Map9267.68UniSTS
NCBI RH Map9653.8UniSTS
RH79011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,602,045 - 80,602,185UniSTSGRCh37
Build 36979,791,865 - 79,792,005RGDNCBI36
Celera951,179,142 - 51,179,282RGD
Cytogenetic Map9q21UniSTS
HuRef950,433,299 - 50,433,439UniSTS
GeneMap99-GB4 RH Map9266.01UniSTS
A002Y36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,335,572 - 80,335,791UniSTSGRCh37
Build 36979,525,392 - 79,525,611RGDNCBI36
Celera950,912,677 - 50,912,896RGD
Cytogenetic Map9q21UniSTS
HuRef950,167,804 - 50,168,023UniSTS
GeneMap99-GB4 RH Map9266.53UniSTS
NCBI RH Map9741.5UniSTS
SHGC-53345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,335,207 - 80,335,410UniSTSGRCh37
GRCh372132,180,333 - 132,180,537UniSTSGRCh37
Build 362131,896,803 - 131,897,007RGDNCBI36
Celera950,912,312 - 50,912,515UniSTS
Celera2125,902,994 - 125,903,198RGD
Cytogenetic Map9q21UniSTS
Cytogenetic Map2q21.1UniSTS
HuRef950,167,439 - 50,167,642UniSTS
HuRef2124,174,474 - 124,174,678UniSTS
UniSTS:482300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372132,181,348 - 132,182,458UniSTSGRCh37
Celera2125,904,009 - 125,905,119UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2416 1983 1476 390 1113 233 3480 1169 3674 386 1405 1601 171 1202 2075 5
Low 23 1006 250 234 384 232 877 1027 60 33 54 11 4 1 2 713 1 2
Below cutoff 2 219 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF011496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF329284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV570171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB474490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB511250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000286548   ⟹   ENSP00000286548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl977,716,097 - 78,031,811 (-)Ensembl
RefSeq Acc Id: ENST00000411677   ⟹   ENSP00000391501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl977,797,528 - 78,030,604 (-)Ensembl
RefSeq Acc Id: NM_002072   ⟹   NP_002063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38977,716,097 - 78,031,811 (-)NCBI
GRCh37980,335,189 - 80,646,219 (-)ENTREZGENE
Build 36979,525,009 - 79,836,012 (-)NCBI Archive
HuRef950,163,419 - 50,477,668 (-)NCBI
CHM1_1980,478,436 - 80,793,818 (-)NCBI
T2T-CHM13v2.0989,873,050 - 90,188,930 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423239   ⟹   XP_047279195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38977,716,097 - 78,030,921 (-)NCBI
RefSeq Acc Id: XM_047423240   ⟹   XP_047279196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38977,716,097 - 77,984,048 (-)NCBI
Protein Sequences
Protein RefSeqs NP_002063 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279195 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279196 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA99950 (Get FASTA)   NCBI Sequence Viewer  
  AAB06875 (Get FASTA)   NCBI Sequence Viewer  
  AAB39498 (Get FASTA)   NCBI Sequence Viewer  
  AAB64301 (Get FASTA)   NCBI Sequence Viewer  
  AAC50363 (Get FASTA)   NCBI Sequence Viewer  
  AAG61117 (Get FASTA)   NCBI Sequence Viewer  
  AAH57777 (Get FASTA)   NCBI Sequence Viewer  
  AAH67850 (Get FASTA)   NCBI Sequence Viewer  
  AAH69520 (Get FASTA)   NCBI Sequence Viewer  
  AAH75096 (Get FASTA)   NCBI Sequence Viewer  
  AAH75097 (Get FASTA)   NCBI Sequence Viewer  
  AAM12610 (Get FASTA)   NCBI Sequence Viewer  
  ADO22293 (Get FASTA)   NCBI Sequence Viewer  
  AEV76928 (Get FASTA)   NCBI Sequence Viewer  
  AEV76929 (Get FASTA)   NCBI Sequence Viewer  
  AEV76930 (Get FASTA)   NCBI Sequence Viewer  
  AEV76931 (Get FASTA)   NCBI Sequence Viewer  
  BAH12817 (Get FASTA)   NCBI Sequence Viewer  
  CAV33030 (Get FASTA)   NCBI Sequence Viewer  
  EAW62605 (Get FASTA)   NCBI Sequence Viewer  
  EAW62606 (Get FASTA)   NCBI Sequence Viewer  
  EAW62607 (Get FASTA)   NCBI Sequence Viewer  
  EAW62608 (Get FASTA)   NCBI Sequence Viewer  
  EAW62609 (Get FASTA)   NCBI Sequence Viewer  
  EAW62610 (Get FASTA)   NCBI Sequence Viewer  
  P50148 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002063   ⟸   NM_002072
- UniProtKB: Q9BZB9 (UniProtKB/Swiss-Prot),   P50148 (UniProtKB/Swiss-Prot),   A0A024R240 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000391501   ⟸   ENST00000411677
RefSeq Acc Id: ENSP00000286548   ⟸   ENST00000286548
RefSeq Acc Id: XP_047279195   ⟸   XM_047423239
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279196   ⟸   XM_047423240
- Peptide Label: isoform X1
Protein Domains
G-alpha

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50148-F1-model_v2 AlphaFold P50148 1-359 view protein structure

Promoters
RGD ID:7215289
Promoter ID:EPDNEW_H13391
Type:initiation region
Name:GNAQ_2
Description:G protein subunit alpha q
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13392  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,031,449 - 78,031,509EPDNEW
RGD ID:7215291
Promoter ID:EPDNEW_H13392
Type:initiation region
Name:GNAQ_1
Description:G protein subunit alpha q
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13391  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,031,950 - 78,032,010EPDNEW
RGD ID:6807745
Promoter ID:HG_KWN:63746
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:UC004AKV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36979,521,386 - 79,521,886 (-)MPROMDB
RGD ID:6807742
Promoter ID:HG_KWN:63747
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052761,   OTTHUMT00000052762
Position:
Human AssemblyChrPosition (strand)Source
Build 36979,835,511 - 79,837,062 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4390 AgrOrtholog
COSMIC GNAQ COSMIC
Ensembl Genes ENSG00000156052 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000286548 ENTREZGENE
  ENSP00000286548.4 UniProtKB/Swiss-Prot
  ENSP00000391501.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000286548 ENTREZGENE
  ENST00000286548.9 UniProtKB/Swiss-Prot
  ENST00000411677.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156052 GTEx
HGNC ID HGNC:4390 ENTREZGENE
Human Proteome Map GNAQ Human Proteome Map
InterPro Gprotein_alpha_Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gprotein_alpha_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GproteinA_insert UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2776 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2776 ENTREZGENE
OMIM 163000 OMIM
  185300 OMIM
  600998 OMIM
PANTHER GUANINE NUCLEOTIDE-BINDING PROTEIN G(Q) SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10218 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SD21019P UniProtKB/TrEMBL
Pfam G-alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA174 PharmGKB
PRINTS GPROTEINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPROTEINAQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART G_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R240 ENTREZGENE, UniProtKB/TrEMBL
  B1AM21_HUMAN UniProtKB/TrEMBL
  G3V1P7_HUMAN UniProtKB/TrEMBL
  G9FP35_HUMAN UniProtKB/TrEMBL
  G9FP37_HUMAN UniProtKB/TrEMBL
  G9FP38_HUMAN UniProtKB/TrEMBL
  GNAQ_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BZB9 ENTREZGENE
UniProt Secondary O15108 UniProtKB/Swiss-Prot
  Q13462 UniProtKB/Swiss-Prot
  Q6NT27 UniProtKB/Swiss-Prot
  Q92471 UniProtKB/Swiss-Prot
  Q9BZB9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 GNAQ  G protein subunit alpha q    guanine nucleotide binding protein (G protein), q polypeptide  Symbol and/or name change 5135510 APPROVED