Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2767
Gene name	G protein subunit alpha 11
Gene symbol	GNA11
Synonyms (NCBI Gene)	FBHFBH2FHH2GNA-11HG1KHHC2HYPOC2
Chromosome	19
Chromosome location	19p13.3
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.

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140749796	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs587777019	T>A	Pathogenic	Coding sequence variant, missense variant
rs587777020	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777021	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777022	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777707	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs672601249	ATC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1057519742	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1555702147	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments
MIRT2003165	hsa-miR-1253	CLIP-seq
MIRT2003166	hsa-miR-18a	CLIP-seq
MIRT2003167	hsa-miR-18b	CLIP-seq
MIRT2003168	hsa-miR-4735-3p	CLIP-seq

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001508	Process	Action potential	IBA
GO:0001508	Process	Action potential	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	8530500
GO:0003925	Function	G protein activity	IDA	31073061
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	18703424
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18703424
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9175863
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005886	Component	Plasma membrane	IDA	18703424
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9175863
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8530500
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	31073061
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007507	Process	Heart development	IEA
GO:0007603	Process	Phototransduction, visible light	ISS
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0009649	Process	Entrainment of circadian clock	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030234	Function	Enzyme regulator activity	IDA	31073061
GO:0030234	Function	Enzyme regulator activity	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0045202	Component	Synapse	IEA
GO:0045634	Process	Regulation of melanocyte differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IBA
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0071467	Process	Cellular response to pH	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA

MIM	HGNC	e!Ensembl
139313	4379	ENSG00000088256

P29992

Protein name

Guanine nucleotide-binding protein subunit alpha-11 (G alpha-11) (G-protein subunit alpha-11) (EC 3.6.5.-) (Guanine nucleotide-binding protein G(y) subunit alpha)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alterna

PDB

6OIJ , 7RKF , 7TRY , 7XXH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	16 → 348	G-protein alpha subunit	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:18703424}.

Sequence

MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMR
IIHGAGYSEEDKRGFTKLVYQNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEK
VTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYYLTDVDRIATLGYLPTQQDVL
RVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQR
DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

Sequence length

359

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction Gap junction Cholinergic synapse Long-term depression Insulin secretion GnRH signaling pathway Aldosterone synthesis and secretion Cortisol synthesis and secretion Parathyroid hormone synthesis, secretion and action GnRH secretion Cushing syndrome Growth hormone synthesis, secretion and action Chagas disease Amoebiasis Human cytomegalovirus infection Human immunodeficiency virus 1 infection Pathways in cancer		Acetylcholine regulates insulin secretion G alpha (q) signalling events ADP signalling through P2Y purinoceptor 1 Thromboxane signalling through TP receptor Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion Thrombin signalling through proteinase activated receptors (PARs)

122

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant hypocalcemia 2	Likely pathogenic; Pathogenic	rs1335558363, rs587777707, rs140749796, rs587777021, rs587777022	RCV005014615 RCV000144048 RCV000054477 RCV000054478 RCV000054479
Familial hypocalciuric hypercalcemia 2	Likely pathogenic; Pathogenic	rs1335558363, rs672601249, rs587777019, rs587777021	RCV001706737 RCV000054474 RCV000054475 RCV002504951
Neoplasm	Likely pathogenic; Pathogenic	rs1057519742	RCV005230290
Papillary renal cell carcinoma type 1	Likely pathogenic	rs2145326448	RCV005931964
See cases	Likely pathogenic; Pathogenic	rs1057519742	RCV003128401
Venous malformation	Pathogenic	rs2145325982	RCV004566501

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Capillary malformation	Conflicting classifications of pathogenicity	rs1555702147	RCV001526569
CLOVES syndrome	Conflicting classifications of pathogenicity	rs1555702147	RCV001526637
GNA11-related disorder	Likely benign; Benign; Uncertain significance	rs146295413, rs145033220, rs141926949, rs118125169, rs73527836, rs1913997296, rs758302558, rs1257166339, rs778757346, rs138168314, rs147368872	RCV003900707 RCV003948517 RCV003931080 RCV003948524 RCV003948557 RCV003397795 RCV003901300 RCV003909491 RCV003969296 RCV003910490 RCV003958206
Hepatocellular carcinoma	Benign	rs308046	RCV005892545
Lobular capillary hemangiomas	Conflicting classifications of pathogenicity	rs1555702147	RCV000662311
Ovarian serous cystadenocarcinoma	Uncertain significance; -	rs138878739, rs1286504313	RCV005930048 RCV006136137
Schwartz-Jampel syndrome type 1	Uncertain significance	rs762218250	RCV004813217
Segmental undergrowth associated with capillary malformation	Conflicting classifications of pathogenicity	rs1555702147	RCV001706699
Thymoma	Benign; Likely benign	rs61731117	RCV005911819
Thyroid cancer, nonmedullary, 1	-	rs1286504313	RCV006136138

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Baraitser Brett Piesowicz syndrome	Associate	27334330
Breast Neoplasms	Associate	24297604
Carcinoma Papillary	Associate	37750536
Carcinoma Small Cell	Associate	37750536
Central Nervous System Neoplasms	Associate	34031065
Colorectal Neoplasms	Associate	28675510
Cutis marmorata telangiectatica congenita	Associate	35700413
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Esophageal Squamous Cell Carcinoma	Associate	33457096
Familial Hypophosphatemic Rickets	Associate	27334330
Glioblastoma	Associate	37053535
Growth Disorders	Associate	27334330
Hemangioma	Associate	27058448, 30601876, 31189994, 37750536
Hyperaldosteronism	Associate	34385710
Hypercalcemia	Associate	23802516, 28833550
Hypercalciuric Hypocalcemia Familial	Associate	23802516, 24823460, 26818911, 26994139, 27334330, 31820785
Hyperparathyroidism	Associate	37810884
Hypertension	Associate	36440997
Hypocalcemia	Associate	23802516, 26818911, 27334330
Hypocalcemia Autosomal Dominant with Bartter Syndrome	Associate	23802516, 24708097
Hypocalciuric hypercalcemia familial type 1	Associate	23802516, 26729423, 31723423
Hypocalciuric hypercalcemia familial type 2	Associate	23802516, 24708097, 26729423, 26994139, 28833550
Hypoparathyroidism	Associate	30137364
Keratoconus	Associate	26818911
Liver Neoplasms	Associate	30601876
Melanoma	Associate	22236444, 22536370, 24345920, 26076063, 26084293, 26368812, 26743478, 27089234, 29371009, 30054423, 30558566, 30601876, 34031065, 35642348, 35835335, 37053535 View all (1 more)
Melanoma Cutaneous Malignant	Associate	26825879, 35512098
Meningeal Neoplasms	Associate	25315378, 26769193
Mesothelioma Malignant	Associate	25588929
Mouth Diseases	Associate	27476652
Neoplasm Metastasis	Associate	23634288
Neoplasms	Associate	22977135, 23634288, 24297604, 24423917, 26059332, 26824052, 26825879, 27476652, 29726589, 30204251, 32415113, 34291585, 35975235, 36847256, 37053535, 37730182, 37862025 View all (2 more)
Neurilemmoma	Associate	28012237
Neurocutaneous Syndromes	Associate	37802294
Nevus	Associate	28809862, 29371009
Nevus Blue	Associate	23599145, 27934878, 28409567, 30601876
Ovarian Neoplasms	Associate	29170526
Port Wine Stain	Associate	30601876
Rectal Neoplasms	Associate	36142267
Severe Acute Respiratory Syndrome	Associate	24423937
Simpson Golabi Behmel syndrome	Associate	32500425
Sturge Weber Syndrome	Associate	30601876, 37802294
Thrombophilia Due To Elevated Histidine Rich Glycoprotein	Associate	27058448
Thyroid Neoplasms	Associate	32737449
Uveal melanoma	Associate	21828154, 21945171, 22236444, 22977135, 23634288, 23778528, 23887304, 24423917, 25030020, 25280020, 25315378, 25653058, 25764247, 25769001, 26059332 View all (29 more)
Vascular Diseases	Associate	37750536
Vascular Neoplasms	Associate	27476652

GNA11 (G protein subunit alpha 11)