GNA11 - G protein subunit alpha 11 Gene

Homo sapiens

Also known as FBH; FBH2; FHH2; HG1K; HHC2; GNA-11; HYPOC2

Gene ID: 2767 | Gene type: protein coding

About GNA11

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,094,362-3,123,999 (from NCBI)

This gene has 7 transcripts (splice variants), 226 orthologues, 15 paralogues and is associated with 93 phenotypes. Broad expression in small intestine (RPKM 57.6), duodenum (RPKM 46.4) and 23 other tissues.

Summary

The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]

GNA11 Products(1)

mRNA	Protein	Name
NM_002067.5	NP_002058.2	guanine nucleotide-binding protein subunit alpha-11

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18703424	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18703424	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

GNA11 Protein Structure

G-alpha

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide-binding protein subunit alpha-11

g alpha-11

Related Diseases

Diseases

Alias

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

Hypocalcemia, Autosomal Dominant 2

Autosomal Dominant Hypocalcemia 2	HYPOC2
Hypocalcemia, Autosomal Dominant, Type 2

Phakomatosis Cesioflammea

Phakomatosis Pigmentovascularis Type 2

Phakomatosis Cesiomarmorata

Phakomatosis Pigmentovascularis Type 5

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

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

Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia	Autosomal Dominant Hypocalcemia 1
HYPOC1	Hypocalcemia, Autosomal Dominant
Hypercalciuric Hypocalcemia	Hypocalcemia, Autosomal Dominant, With Bartter Syndrome
Familial Hypocalcemia	Hypocalcemia, Familial
Hypoc	Adh
Autosomal Dominant Hypoparathyroidism	Familial Hypercalciuric Hypocalcemia
Ad Hypocalcemia	Autosomal Dominant Hypocalcemia With Bartter Syndrome
Hypoparathyroidism - Autosomal Dominant	Hypocalcemia

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

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]

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

Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3	Familial Hypocalciuric Hypercalcemia 3
Fbh3	Familial Hypocalciuric Hypercalcemia Type 3
Hypercalcemia, Familial Benign, Oklahoma Type	Hypocalciuric Hypercalcemia, Type Iii
Fhh Type 3	Hypocalciuric Hypercalcemia Type Iii
Familial Benign Hypercalcemia, Type Iii	Hypercalcemia, Familial Benign, Type Iii
Fbhok	Familial Benign Hypercalcemia, Oklahoma Variant
Familial Benign Hypercalcemia, Type 3	Hypercalcemia, Familial Benign, Type 3
Hypocalciuric Hypercalcemia, Familial, Type 3	Hypocalciuric Hypercalcemia, Familial 3
Familial Benign Hypercalcemia 3	Familial Benign Hypercalcemia Oklahoma Type
Familial Benign Hypocalciuric Hypercalcemia 3	Fbhh3
Fhh3

Hypocalciuric Hypercalcemia, Familial, Type I

HHC1	Familial Hypocalciuric Hypercalcemia 1
Fhh1	Familial Benign Hypercalcemia 1
Fbh1	Hypocalciuric Hypercalcemia, Type I
Fhh Type 1	Hhc
Fhh	Hypercalcemia, Familial Benign
Hypocalciuric Hypercalcemia Type I	Familial Hypocalciuric Hypercalcemia Type 1
Hypocalciuric Hypercalcemia, Familial, Type 1	Familial Hypocalciuric Hypercalcemia Type I
Familial Benign Hypercalcemia Type 1	Hypercalcemia, Familial Benign Type 1
Hypocalciuric Hypercalcemia, Familial 1	Familial Benign Hypocalciuric Hypercalcemia 1
Fbhh1

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

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

Meningeal Melanocytoma

Leptomeningeal Melanocytoma

Melanocytoma Of Meninges

Chondrocalcinosis

Pseudogout	Calcium Pyrophosphate Deposition Disease
Familial Chondrocalcinosis	Chondrocalcinosis Nos
Cppd - [Calcium Pyrophosphate Deposition Disease]	Cpdd - [Calcium Pyrophosphate Deposition Disease]
Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site	Chondrocalcinosis, Cause Unspecified
Chondrocalcinosis Due To Pyrophosphate Crystals	Chondrocalcinosis Articularis
Calcium Pyrophosphate Arthritis And Periarthritis

Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia	Fbh
Fbhh	Fhh
Familial Benign Hypocalciuric Hypercalcemia	Hypocalciuric Hypercalcemia, Familial, Type 1

Malignant Conjunctival Melanoma

Conjunctival Melanoma	Malignant Melanoma Of Conjunctiva
Conjunctival Malignant Melanoma

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

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

Mucosal Melanoma

Hypoparathyroidism

Hypoparathyroidism, Idiopathic	Parathyroid, Underactivity Of
Syndrome With Hypoparathyroidism	Deficiency Of Parathyroid Hormone
Parathyroid Gland Insufficiency	Parathyroid Insufficiency
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Pseudohypoparathyroidism, Type Ia

Albright'S Hereditary Osteodystrophy	Albright Hereditary Osteodystrophy
Pseudohypoparathyroidism Type 1a	PHP1A
Albright Hereditary Osteodystrophy With Multiple Hormone Resistance	Pseudohypoparathyroidism Ia
AHO	Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Pseudo-Pseudohypoparathyroidism	Pseudohypoparathyroidism Type I A
Php Ia	Pseudopseudohypoparathyroidism
Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance	Pphp
Pseudopseudo-Hypoparathyroidism	Aho-Php Syndrome Ia
Albright Hereditary Osteodystrophy-Php Syndrome Ia	Pseudohypoparathyroidism 1a
Pseudohypoparathyroidism

Mongolian Spot

Mongolian Macula

Weber Syndrome

Midbrain Stroke Syndromes

Malignant Choroid Melanoma

Malignant Melanoma Of Choroid

Melanoma Of The Choroid

Epithelioid Cell Melanoma

Epithelioid Melanoma

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

Uveal Disease

Uveal Diseases

Familial Isolated Hypoparathyroidism

Fih

Pseudopseudohypoparathyroidism

PPHP	Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance
Normocalcemic Pseudohypoparathyroidism	Aho-Pphp Syndrome
Albright Hereditary Osteodystrophy-Pphp Syndrome	Pseudohypoparathyroidism

Endometrial Mucinous Adenocarcinoma

Uterine Corpus Mucinous Adenocarcinoma

Conjunctival Nevus

Nevus Of Conjunctiva

Nephrocalcinosis

Hypercalcemic Nephropathy

Mixed Cell Uveal Melanoma

Intraocular Mixed Cell Type Melanoma

Mixed Cell Type Uveal Melanoma

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

Scrotum Melanoma

Melanoma Of Scrotum

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

Hemangioma

Hemangiomas

Diffuse Meningeal Melanocytosis

Diffuse Melanocytosis

Diffuse Melanosis

Malignant Skin Fibrous Histiocytoma

Vaginal Melanoma

Malignant Fibrous Histiocytoma Of Skin

Malignant Dermis Tumor

Malignant Tumor Of Dermis	Malignant Dermis Tumour
Malignant Neoplasm Of Dermis	Malignant Tumour Of Dermis

Spitzoid Melanoma

Atypical Spitz Nevus

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

Mccune-Albright Syndrome

Mass Syndrome	Polyostotic Fibrous Dysplasia
MAS	Fibrous Dysplasia Of Bone
Albright Syndrome	Mass Phenotype
Overlap Connective Tissue Disease	Mccune Albright Syndrome
Osteitis Fibrosa Disseminata	OCTD
Albright'S Disease	Pfd
Pofd	Albright'S Syndrome
Mccune-Albright Syndrome, Somatic, Mosaic	Albright'S Disease Of Bone
Albright'S Syndrome With Precocious Puberty	Albright-Mccune-Sternberg Syndrome
Albright-Sternberg Syndrome	Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty
Gonadotropin-Independent Female-Limited Sexual Precocity	Fibrous Dysplasia Polyostotic
Fibrous Dysplasia, Polyostotic

Melanotic Neurilemmoma

Melanotic Schwannoma	Pigmented Neurilemmoma
Pigmented Schwannoma

Malignant Spindle Cell Melanoma

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

Malignant Ciliary Body Melanoma

Malignant Melanoma Of Ciliary Body

Melanoma Of The Ciliary Body

Sensory Organ Benign Neoplasm

Melanomatosis

Nodular Malignant Melanoma

Nodular Melanoma

Spinal Cord Melanoma

Melanoma Of The Spinal Cord

Osseous Heteroplasia, Progressive

Progressive Osseous Heteroplasia	POH
Osteoma Cutis	Familial Ectopic Ossification
Ectopic Ossification Familial Type	Ectopic Ossification
Heterotopic Ossification	Ectopic Ossification, Familial
Cutaneous Ossification	Myositis Ossificans Progressiva
Osteodermia	Osteosis Cutis
Ossification Heterotopic	Heteroplasia, Osseous, Progressive
Fibrodysplasia Ossificans Progressiva

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

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

Childhood Angiosarcoma

Paediatric Angiosarcoma	Paediatric Hemangiosarcoma
Pediatric Angiosarcoma	Pediatric Hemangiosarcoma

Parathyroid Gland Disease

Parathyroid Diseases	Disease Of Parathyroid Glands
Parathyroid Disease

Primary Hyperparathyroidism

Familial Primary Hyperparathyroidism	Hyperparathyroidism, Primary
Hyperparathyroidism Primary	Hypocalciuric Hypercalcemia, Familial, Type 1
Familial Benign Hypercalcemia	Familial Hyperparathyroidism
Parathyroid Enlargement

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

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

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

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

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

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05529	GNA11 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GNA11	VGNC	VGNC:73085
Mus musculus	GNA11	MGD	MGI:95766
Rattus norvegicus	GNA11	RGD	RGD:619749
Bos taurus	GNA11	VGNC	VGNC:29444
Felis catus	GNA11	VGNC	VGNC:102587