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 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: CMAL; 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 Orthologs
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.p14 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-bromohexadecanoic acid  (EXP)
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)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bromochloroacetic acid  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
carbamazepine  (EXP)
chlorpyrifos  (ISO)
cicaprost  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (ISO)
cyproterone acetate  (EXP)
D-glucose  (ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fingolimod hydrochloride  (EXP)
fluoxetine  (ISO)
folic acid  (ISO)
FR900359  (ISO)
fulvestrant  (ISO)
gadolinium atom  (ISO)
glucose  (ISO)
hexadecanoic acid  (ISO)
hexane  (ISO)
hydrogen cyanide  (ISO)
hydrogen sulfide  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
methyl methanesulfonate  (EXP)
N-ethyl-5'-carboxamidoadenosine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nickel dichloride  (ISO)
oleic acid  (ISO)
omipalisib  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
potassium chromate  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sphingosine 1-phosphate  (EXP)
streptozocin  (ISO)
strontium atom  (ISO)
succimer  (ISO)
tamibarotene  (EXP)
Tanshinone I  (ISO)
theophylline  (ISO)
Thrombin  (EXP)
trametinib  (EXP)
triphenyl phosphate  (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)
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IBA,ISO)
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)
neuropeptide signaling pathway  (IDA)
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 glutamate receptor signaling pathway  (IDA)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IDA,ISO)
phospholipase C-activating serotonin receptor signaling pathway  (IDA)
phototransduction, visible light  (ISS)
positive regulation of insulin secretion  (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)
response to prostaglandin E  (IDA)
signal transduction  (IEA)
skeletal system development  (ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal choroid morphology  (IAGP)
Abnormal cranial nerve morphology  (IAGP)
Abnormal fundus morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal visual accommodation  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the lower limb  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of vision  (IAGP)
Arachnoid hemangiomatosis  (IAGP)
Arrhythmia  (IAGP)
Arteriovenous malformation  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (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)
Irregular hyperpigmentation  (IAGP)
Lower limb asymmetry  (IAGP)
Macrocephaly  (IAGP)
Melanoma  (IAGP)
Metamorphopsia  (IAGP)
Mydriasis  (IAGP)
Neoplasm of the lung  (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
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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  
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PMID:38013159   PMID:38917801  


Genomics

Comparative Map Data
GNAQ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38977,716,097 - 78,031,811 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 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
GRCr81222,852,453 - 223,098,754 (+)NCBIGRCr8
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_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01228,689,512 - 228,935,809 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01221,511,974 - 221,758,205 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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
LOC100986730
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21176,877,498 - 77,190,897 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1976,883,323 - 77,196,700 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0946,816,409 - 47,129,116 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1976,570,773 - 76,773,847 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl976,575,815 - 76,773,849 (-)Ensemblpanpan1.1panPan2
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 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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
47 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]|Melanoma [RCV003221795]|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|uncertain significance|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 not specified [RCV003986800] 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 Abnormal cardiovascular system morphology [RCV001327979]|Melanoma [RCV000442822]|Sturge-Weber syndrome [RCV003458165] 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]|Sturge-Weber syndrome [RCV004563306]|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
NM_002072.5(GNAQ):c.456A>C (p.Gln152His) single nucleotide variant Inborn genetic diseases [RCV003276785] Chr9:77815636 [GRCh38]
Chr9:80430552 [GRCh37]
Chr9:9q21.2		 uncertain significance
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 Sturge-Weber syndrome [RCV003458178]|not provided [RCV002254468] Chr9:77922339 [GRCh38]
Chr9:80537255 [GRCh37]
Chr9:9q21.2		 pathogenic|likely 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
NM_002072.5(GNAQ):c.81_90dup (p.Arg31fs) duplication not provided [RCV003329992] Chr9:78031145..78031146 [GRCh38]
Chr9:80646061..80646062 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.5(GNAQ):c.735+30A>G single nucleotide variant not provided [RCV003487874] Chr9:77794433 [GRCh38]
Chr9:80409349 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.5(GNAQ):c.547C>G (p.Arg183Gly) single nucleotide variant Familial multiple nevi flammei [RCV003445402] Chr9:77797578 [GRCh38]
Chr9:80412494 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_002072.5(GNAQ):c.267C>T (p.Ala89=) single nucleotide variant not provided [RCV003425692] Chr9:77922215 [GRCh38]
Chr9:80537131 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.548G>C (p.Arg183Pro) single nucleotide variant GNAQ-related disorder [RCV003393169] Chr9:77797577 [GRCh38]
Chr9:80412493 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_002072.5(GNAQ):c.736-6_736-5del deletion GNAQ-related disorder [RCV003924104] Chr9:77728672..77728673 [GRCh38]
Chr9:80343588..80343589 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.736-3dup duplication GNAQ-related disorder [RCV003964720] Chr9:77728669..77728670 [GRCh38]
Chr9:80343585..80343586 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.736-5T>C single nucleotide variant GNAQ-related disorder [RCV003981630] Chr9:77728672 [GRCh38]
Chr9:80343588 [GRCh37]
Chr9:9q21.2		 likely benign
NM_002072.5(GNAQ):c.946C>G (p.Leu316Val) single nucleotide variant Inborn genetic diseases [RCV004629881] Chr9:77721457 [GRCh38]
Chr9:80336373 [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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406963202GWAS612178_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS612178 (human)0.0000001severe acute respiratory syndrome, COVID-1997802437978024380Human
406953797GWAS602773_Hbody mass index QTL GWAS602773 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)97784236077842361Human
407103621GWAS752597_Hage at menarche QTL GWAS752597 (human)2e-10age at menarche97802437978024380Human
406963974GWAS612950_HCOVID-19 QTL GWAS612950 (human)0.0000008COVID-1997801142778011428Human
407108619GWAS757595_Hprotein measurement QTL GWAS757595 (human)7e-09protein measurement97798271077982711Human
406899497GWAS548473_Hdyslexia QTL GWAS548473 (human)6e-08dyslexia97779204577792046Human
406962856GWAS611832_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS611832 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)97784236077842361Human
407341838GWAS990814_Hcalcium measurement QTL GWAS990814 (human)2e-33calcium measurementblood calcium level (CMO:0000502)97788364377883644Human
407328077GWAS977053_Hdiet measurement QTL GWAS977053 (human)3e-08diet measurementfood intake measurement (CMO:0000772)97772685877726859Human
406998792GWAS647768_Hprotein measurement QTL GWAS647768 (human)1e-08protein measurement97776658077766581Human
407016072GWAS665048_Hbody mass index QTL GWAS665048 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)97802058378020584Human
406963565GWAS612541_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS612541 (human)2e-10severe acute respiratory syndrome, COVID-1997796079377960794Human
407257803GWAS906779_Hcalcium measurement QTL GWAS906779 (human)2e-32calcium measurementblood calcium level (CMO:0000502)97788364377883644Human
407118025GWAS767001_Hduodenal ulcer QTL GWAS767001 (human)2e-10duodenal ulcer97799287377992874Human
407115883GWAS764859_Hprotein measurement QTL GWAS764859 (human)1e-08protein measurement97785650277856503Human
407074828GWAS723804_Hbody mass index QTL GWAS723804 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)97802337478023375Human
407071602GWAS720578_Hbody mass index QTL GWAS720578 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)97791745877917459Human
406963667GWAS612643_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS612643 (human)0.0000005severe acute respiratory syndrome, COVID-1997797014477970145Human
407272305GWAS921281_Hbody height QTL GWAS921281 (human)2e-13body height (VT:0001253)body height (CMO:0000106)97787011777870118Human
407137564GWAS786540_Hgestational age QTL GWAS786540 (human)2e-08gestational age97793601577936016Human
406918780GWAS567756_Hbody mass index QTL GWAS567756 (human)6e-09body mass indexbody mass index (BMI) (CMO:0000105)97789516177895162Human

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

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2249 4974 1726 2351 6 624 1716 465 2270 7075 6241 53 3734 1 852 1744 1617 175 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
  XM_054362755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362756 (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

Ensembl Acc Id: ENST00000286548   ⟹   ENSP00000286548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl977,716,097 - 78,031,811 (-)Ensembl
Ensembl Acc Id: ENST00000411677   ⟹   ENSP00000391501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38977,716,097 - 78,030,921 (-)NCBI
RefSeq Acc Id: XM_047423240   ⟹   XP_047279196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38977,716,097 - 77,984,048 (-)NCBI
RefSeq Acc Id: XM_054362755   ⟹   XP_054218730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0989,873,050 - 90,188,040 (-)NCBI
RefSeq Acc Id: XM_054362756   ⟹   XP_054218731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0989,873,050 - 90,088,964 (-)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  
  XP_054218730 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218731 (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  
Ensembl Protein ENSP00000286548
  ENSP00000286548.4
  ENSP00000391501.1
GenBank Protein P50148 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002063   ⟸   NM_002072
- UniProtKB: Q92471 (UniProtKB/Swiss-Prot),   Q6NT27 (UniProtKB/Swiss-Prot),   Q13462 (UniProtKB/Swiss-Prot),   O15108 (UniProtKB/Swiss-Prot),   Q9BZB9 (UniProtKB/Swiss-Prot),   P50148 (UniProtKB/Swiss-Prot),   A0A024R240 (UniProtKB/TrEMBL),   G9FP35 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000391501   ⟸   ENST00000411677
Ensembl Acc Id: ENSP00000286548   ⟸   ENST00000286548
RefSeq Acc Id: XP_047279195   ⟸   XM_047423239
- Peptide Label: isoform X1
- UniProtKB: G9FP35 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279196   ⟸   XM_047423240
- Peptide Label: isoform X1
- UniProtKB: G9FP35 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218730   ⟸   XM_054362755
- Peptide Label: isoform X1
- UniProtKB: G9FP35 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218731   ⟸   XM_054362756
- Peptide Label: isoform X1
- UniProtKB: G9FP35 (UniProtKB/TrEMBL)
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 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 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
  G9FP35 ENTREZGENE, UniProtKB/TrEMBL
  G9FP37_HUMAN UniProtKB/TrEMBL
  G9FP38_HUMAN UniProtKB/TrEMBL
  GNAQ_HUMAN UniProtKB/Swiss-Prot
  O15108 ENTREZGENE
  P50148 ENTREZGENE
  Q13462 ENTREZGENE
  Q6NT27 ENTREZGENE
  Q92471 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