GNA11 - G protein subunit alpha 11 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2767

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18703424	GOA

Cellular Component GO Annotation	Evidence	Verweise	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

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05529	GNA11 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GNA11	NCBI