GNAQ - G protein subunit alpha q Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2776

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

GNAQ Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83193	GNAQ Antibody (YA2938)	WB	Human, Mouse, Rat
HY-P83193A	GNAQ Antibody (YA2938)(PBS only)	WB	Human, Mouse, Rat

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

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05539	GNAQ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22188	Gnaq Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28710	Gnaq Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GNAQ	NCBI