GNAQ - G protein subunit alpha q Gene

Homo sapiens

Also known as GAQ; SWS; CMC1; G-ALPHA-q

Gene ID: 2776 | Gene type: protein coding

About GNAQ

Cytogenetic location: 9q21.2 Genomic coordinates (GRCh38): 9:77,716,097-78,031,811 (from NCBI)

This gene has 2 transcripts (splice variants), 257 orthologues, 15 paralogues and is associated with 105 phenotypes. Ubiquitous expression in brain (RPKM 36.1), lung (RPKM 23.2) and 25 other tissues.

Summary

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

GNAQ Products(1)

mRNA	Protein	Name
NM_002072.5	NP_002063.2	guanine nucleotide-binding protein G(q) subunit alpha

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables G protein activity	IDA IDA: Inferred from direct assay	11024015	GOA
enables GTPase activator activity	IDA IDA: Inferred from direct assay	15611106	GOA
enables enzyme regulator activity	IDA IDA: Inferred from direct assay	37991948	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18672896	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of protein kinase activity	IMP IMP: Inferred from mutant phenotype	20399743	GOA
involved in neuropeptide signaling pathway	IDA IDA: Inferred from direct assay	11024015	GOA
involved in phospholipase C-activating G protein-coupled glutamate receptor signaling pathway	IDA IDA: Inferred from direct assay	8253813	GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	37991948	GOA
involved in phospholipase C-activating serotonin receptor signaling pathway	IDA IDA: Inferred from direct assay	37991948	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	20399743	GOA
involved in regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	20399743	GOA
involved in response to prostaglandin E	IDA IDA: Inferred from direct assay	8253813	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in plasma membrane	IDA IDA: Inferred from direct assay	19001095	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNAQ Protein Structure

G-alpha

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide-binding protein G(q) subunit alpha

epididymis secretory sperm binding protein

GNAQ Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GNAQ	P50148	ADGRF1	Homo sapiens	Q5T601	Anti Bait CoIP	34110646
Intra	GNAQ	P50148	ARRB1	Homo sapiens	P49407	Crosslink	23353685
Cross	GNAQ	P50148	Trpm8	Rattus norvegicus	Q8R455	Anti Tag CoIP	22750945
Cross	GNAQ	P50148	Trpm8	Rattus norvegicus	Q8R455	Pull Down	22750945
Cross	GNAQ	P50148	Trpm8	Rattus norvegicus	Q8R455	Anti Bait CoIP	22750945

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Sturge-Weber Syndrome

SWS	Encephalotrigeminal Angiomatosis
Encephalofacial Angiomatosis	Sturge-Weber-Dimitri Syndrome
Sturge-Weber-Krabbe Syndrome	Fourth Phacomatosis
Leptomeningeal Angiomatosis	Meningeal Capillary Angiomatosis
Sturge-Weber-Krabbe Angiomatosis	Sturge-Weber Syndrome, Somatic, Mosaic
Sws Type I - Facial And Leptomeningeal Angiomas	Sws Type Ii - Facial Angioma Alone, No Cns Involvement
Sws Type Iii - Isolated Leptomeningeal Angiomas	Sturge Weber Syndrome
Angiomatosis Aculoorbital-Thalamic Syndrome	Encephalofacial Hemangiomatosis
Encephalofacial Hemangiomatosis Syndrome	Meningo-Oculo-Facial Angiomatosis
Meningofacial Angiomatosis-Cerebral Calcification Syndrome	Neuroretinoangiomatosis
Phakomatosis, Sturge-Weber	Weber-Sturge-Dimitri Syndrome

Capillary Malformations, Congenital

Familial Multiple Nevi Flammei	Nevi Flammei, Familial Multiple
CMC	Port-Wine Stain
Capillary Malformations	Cmal
Familial Multiple Port-Wine Stains	Capillary Malformation
Capillary Malformations, Congenital, 1, Somatic, Mosaic	Congenital Capillary Malformations
Port-Wine Stain Familial Multiple	Hereditary Capillary Malformations
Capillary Malformations, Hereditary	Capillary Malformations, Congenital, Type 1, Somatic, Mosaic
Strawberry Nevus Of Skin	Naevus Flammeus

Angioosteohypertrophic Syndrome

Klippel-Trenaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Phakomatosis Cesioflammea

Phakomatosis Pigmentovascularis Type 2

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome	KTS
Ktw Syndrome	Angioosteohypertrophy Syndrome
Angio-Osteohypertrophy Syndrome	Klippel Trenaunay Syndrome
Klippel-Trénaunay-Weber Syndrome	Haemangiectatic Hypertrophy
Weber-Klippel-Trenaunay	Congenital Dysplastic Angiopathy
Klippel-Trenaunay Disease	Weber Klippel Trenaunay

Melanoma, Uveal

Uveal Melanoma	Choroidal Melanoma
Melanoma Of Uvea	Iris Melanoma
Malignant Melanoma Of Choroid	Malignant Melanoma Of Iris

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Ocular Melanoma

Intraocular Melanoma	Uveal Melanoma
Eye Melanoma	Melanoma Of Eye
Melanoma Of The Uvea	Malignant Melanoma Of Eye

Weber Syndrome

Midbrain Stroke Syndromes

Meningeal Melanocytoma

Leptomeningeal Melanocytoma

Melanocytoma Of Meninges

Pertussis

Whooping Cough	Bordetella Infections
Bordetella Infection	Bordetella Pertussis Infection
Wc - Whooping Cough	Whooping Cough Due To Unspecified Organism
Bordetellosis	Tussis Convulsiva
Whooping Cough, Unspecified Organism	Wc - [Whooping Cough]
Whooping Cough Due To B. Parapertussis	Infection Due To Bordetella Parapertussis

Spindle Cell Intraocular Melanoma

Uveal Spindle Cell Melanoma

Central Nervous System Melanocytic Neoplasm

Primary Melanocytic Lesion Of Meninges	Central Nervous System Primary Melanocytic Lesion
Melanocytic Tumor Of The Cns	Primary Melanocytic Lesions Of The Cns

Posterior Uveal Melanoma

Medium/Large Size Posterior Uveal Melanoma	Small Size Posterior Uveal Melanoma
Ciliary Body And Choroid Melanoma, Medium/Large Size	Ciliary Body And Choroid Melanoma, Small Size

Meningeal Melanomatosis

Leptomeningeal Melanomatosis

Meningeal Melanoma

Melanoma Of The Leptomeninges

Leptomeningeal Melanoma

Malignant Leptomeningeal Tumor

Malignant Leptomeningeal Tumour	Malignant Tumor Of Leptomeninges
Malignant Tumour Of Leptomeninges	Malignant Leptomeningeal Neoplasm

Mongolian Spot

Mongolian Macula

Hypomelanosis Of Ito

Incontinentia Pigmenti Achromians	Nevus Of Ito
Ipa	Ito Hypomelanosis
Ito	Pigmentation Disorders
HMI	Incontinentia Pigmenti, Type I, Formerly
Ip1, Formerly	Bloch-Siemans Syndrome
Incontinentia Pigmenti Achromians Syndrome	Ito'S Nevus
Incontinentia Pigmenti Type 1	Nevi Of Ito
Nevus Fuscocaeruleus Acromiodeltoideus	Bloch Sulzberger Syndrome
Skin Pigmentation Disorder

Malignant Conjunctival Melanoma

Conjunctival Melanoma	Malignant Melanoma Of Conjunctiva
Conjunctival Malignant Melanoma

Mucosal Melanoma

Conjunctival Nevus

Nevus Of Conjunctiva

Uveal Disease

Uveal Diseases

Rapidly Involuting Congenital Hemangioma

Rich

Conjunctival Cancer

Malignant Neoplasm Of Conjunctiva	Conjunctival Neoplasms
Conjunctival Tumor	Malignant Conjunctival Tumor
Malignant Tumor Of Conjunctiva	Neoplasm Of Conjunctiva
Conjunctiva Cancer	Primary Malignant Neoplasm Of Conjunctiva

Mixed Cell Uveal Melanoma

Intraocular Mixed Cell Type Melanoma

Mixed Cell Type Uveal Melanoma

Choroid Cancer

Choroid Neoplasm	Choroidal Tumor
Malignant Tumor Of Choroid	Malignant Tumor Of The Choroid
Neoplasm Of Choroid	Choroid Neoplasms
Primary Malignant Neoplasm Of Choroid

Hemangioma

Hemangiomas

Malignant Choroid Melanoma

Malignant Melanoma Of Choroid

Melanoma Of The Choroid

Acral Lentiginous Melanoma

Acral Lentiginous Melanoma, Malignant	Malignant Acral Lentiginous Melanoma
Alm	Acral Lentiginous Malignant Melanoma Of Skin
Palmar/Plantar Melanoma	Subungual Melanoma
Acral Lentiginous Malignant Melanoma

Melanomatosis

Atrophic Rhinitis

Rhinitis, Atrophic	Ozena
Rhinitis Sicca	Dry Rhinitis
Ozaena

Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 9	CMS9
Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency

Diffuse Meningeal Melanocytosis

Diffuse Melanocytosis

Diffuse Melanosis

Epithelioid Cell Melanoma

Epithelioid Melanoma

Large Congenital Melanocytic Nevus

Giant Pigmented Hairy Nevus	Giant Congenital Melanocytic Nevus
Gmn	Congenital Pigmented Nevus
Lcmn	Gphn
Giant Congenital Nevus	Bathing Trunk Nevus
Congenital Giant Pigmented Nevus	Congenital Hairy Nevus
Giant Hairy Nevus	Giant Pigmented Nevus
Congenital Giant Pigmented Nevus Of Skin	Congenital Melanocytic Nevus Syndrome
Giant Congenital Melanocytic Nevi	Giant Congenital Pigmented Nevus
Melanocytic Nevus Syndrome, Congenital

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Sensory Organ Benign Neoplasm

Nodular Malignant Melanoma

Nodular Melanoma

Malignant Spindle Cell Melanoma

Spindle Cell Melanoma	Desmoplastic Melanoma
Spindle Cell Malignant Melanoma	Spitzoid Malignant Melanoma

Vulvar Melanoma

Malignant Melanoma Of Vulva

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

Cloves Syndrome	Clove Syndrome
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities	Clove Syndrome, Somatic
Nevus	Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome	Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome
CLOVE	Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities
Congenital Arteriovenous Malformation	Arteriovenous Hemangioma
Melanocytic Nevus	Benign Melanocytic Nevus

Spitzoid Melanoma

Atypical Spitz Nevus

Proteus Syndrome

Proteus Syndrome, Somatic	Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome
Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly	Wiedemann'S Syndrome
Hemihypertrophy And Macrocephaly	Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly
Ps	PROTEUSS
Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Hypocalciuric Hypercalcemia, Familial, Type Ii

HHC2	Familial Hypocalciuric Hypercalcemia 2
Fbh2	Familial Hypocalciuric Hypercalcemia Type 2
Hypocalciuric Hypercalcemia, Type Ii	Fhh Type 2
Familial Benign Hypercalcemia, Type Ii	Hypercalcemia, Familial Benign, Type Ii
Hypocalciuric Hypercalcemia Type Ii	Familial Benign Hypercalcemia, Type 2
Hypercalcemia, Familial Benign Type 2	Hypocalciuric Hypercalcemia, Familial, Type 2
Hypocalciuric Hypercalcemia, Familial 2	Familial Benign Hypercalcemia Type Ii
Hypocalciuric Hypercalcemia-2

Melanotic Neurilemmoma

Melanotic Schwannoma	Pigmented Neurilemmoma
Pigmented Schwannoma

Melanoma In Congenital Melanocytic Nevus

Malignant Melanoma In Congenital Melanocytic Nevus	Melanocytic Nevi
Nevi Melanocytic

Nevus, Epidermal

Epidermal Nevus	Woolly Hair Nevus
Epidermal Naevus	Epidermal Nevus Syndrome
Nevus, Keratinocytic, Nonepidermolytic	Epidermal Nevus, Somatic
Nevus, Epidermal, Somatic	Nevus Sebaceous Or Woolly Hair Nevus, Somatic
Nonepidermolytic Keratinocytic Nevus	Epidermal Hamartoma Syndrome
Wooly Hair Nevus	Keratinocytic Non-Epidermolytic Nevus
KNEN	Pigmented Moles
Organoid Nevus Phakomatosis	Nevus Sebaceous
Melanocytic Nevus	Melanocytic Nevus Of Skin

Angiokeratoma Of Fordyce

Fordyce Angiokeratoma	Fordyce'S Spot
Fordyce-Type Angiokeratoma Of Scrotum

Spinal Cord Melanoma

Melanoma Of The Spinal Cord

Skin Melanoma

Cutaneous Melanoma	Malignant Ear Melanoma
Malignant Lip Melanoma	Malignant Lower Limb Melanoma
Malignant Melanoma Of Ear And/Or External Auricular Canal	Malignant Melanoma Of Skin Of Lower Limb
Malignant Melanoma Of Skin Of Trunk Except Scrotum	Malignant Melanoma Of Skin Of Upper Limb
Malignant Neck Melanoma	Malignant Scalp Melanoma
Malignant Trunk Melanoma	Malignant Upper Limb Melanoma
Melanoma, Cutaneous Malignant	Melanoma
Malignant Melanoma Of Skin	Melanoma Nos
Malignant Mole, Meaning Melanoma Of Unspecified Site	Melanoma Of Unspecified Site
Cutaneous Malignant Melanoma	Mm - [Malignant Melanoma]

Ocular Cancer

Eye Neoplasm	Eye Carcinoma
Eye Cancer	Eye Neoplasms
Malignant Eye Neoplasm	Neoplasm Of Eye
Neoplasm Of Eye Proper	Ocular Tumor
Carcinoma Of Eye	Ocular Carcinoma
Malignant Tumor Of Eye

Orbit Rhabdomyosarcoma

Rhabdomyosarcoma Of The Orbit

Rhabdomyosarcoma Of Orbit

Childhood Angiosarcoma

Paediatric Angiosarcoma	Paediatric Hemangiosarcoma
Pediatric Angiosarcoma	Pediatric Hemangiosarcoma

Melanoma, Cutaneous Malignant 1

Familial Melanoma	Melanoma, Cutaneous Malignant, Susceptibility To, 1
Melanoma, Malignant	CMM1
Melanoma, Cutaneous Malignant	Cmm
Familial Atypical Mole-Malignant Melanoma Syndrome	Fammm
Melanoma, Familial	Mlm
Dysplastic Nevus Syndrome, Hereditary	Dns
B-K Mole Syndrome	Melanoma, Cutaneous Malignant, 1
Malignant Melanoma, Cutaneous	Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1
Dysplastic Nevus Syndrome	Cutaneous Melanoma
Familial Atypical Mole Melanoma Syndrome	Hereditary Melanoma

Schimmelpenning-Feuerstein-Mims Syndrome

Nevus Sebaceus Of Jadassohn	Organoid Nevus Phakomatosis
Linear Nevus Sebaceous Syndrome	Sfm Syndrome
Jadassohn Nevus Phakomatosis	Jnp
Schimmelpenning Syndrome	Solomon Syndrome
SFM	Linear Sebaceous Nevus Syndrome
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic	Nevus Sebaceus Syndrome
Organoid Nevus Syndrome	Schimmelpenning Feuerstein Mims Syndrome
Sebaceous Nevus Syndrome, Linear	Epidermal Nevus Syndrome, Formerly
Sebaceous Nevus Syndrome Linear	Linear Nevus Sebaceus Syndrome
Epidermal Nevus Syndrome	Ss
Nevus Sebaceous

Cerebral Angioma

Hemangioma Of Cerebrum

Cerebral Hemangioma

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05539	GNAQ Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GNAQ	VGNC	VGNC:102935
Mus musculus	GNAQ	MGD	MGI:95776
Rattus norvegicus	GNAQ	RGD	RGD:620770
Bos taurus	GNAQ	VGNC	VGNC:29453
Canis familiaris	GNAQ	VGNC	VGNC:41306