• Gene id: 2767

Gene Summary

• Gene Symbol: GNA11   Gene   UCSC   Ensembl
• Aliases: FBH, FBH2, FHH2, GNA-11, HHC2, HYPOC2
• Gene name: G protein subunit alpha 11
• Alternate names: guanine nucleotide-binding protein subunit alpha-11, g alpha-11, guanine nucleotide binding protein (G protein), alpha 11 (Gq class), guanine nucleotide-binding protein G(y) subunit alpha,
• Gene location: 19p13.3 (3094361: 3123998)     Exons: 7     NC_000019.10
• Gene summary(Entrez): 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.
• OMIM: 139313

Protein Summary

• Protein general information: P29992  
  • Name: Guanine nucleotide binding protein subunit alpha 11 (G alpha 11) (G protein subunit alpha 11) (Guanine nucleotide binding protein G(y) subunit alpha)
  • Length: 359  
  • Mass: 42123
  • Tissue specificity: Expressed in testis. {ECO
• Sequence:

  MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGF
  TKLVYQNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRRE
  YQLSDSAKYYLTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTS
  IMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQR
  DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

• Structural information:
  • Protein Domains: (38..35-)
    (/note="G-alpha-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01230"-)
  • Interpro: IPR000654  IPR001019  IPR011025  IPR027417  
  • Prosite: PS51882
  • CDD: cd00066
  • PDB: 6OIJ
  • PDBsum: 6OIJ
  • STRING: ENSP00000078429
• Other Databases: GeneCards:  GNA11  Malacards:  GNA11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	IBA	biological process
GO:0031826	type 2A serotonin receptor binding	IBA	molecular function
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0001664	G protein-coupled receptor binding	IBA	molecular function
GO:0001508	action potential	IBA	biological process
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0001664	G protein-coupled receptor binding	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0019001	guanyl nucleotide binding	IEA	molecular function
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007603	phototransduction, visible light	ISS	biological process
GO:0009649	entrainment of circadian clock	ISS	biological process
GO:0009649	entrainment of circadian clock	ISS	biological process
GO:0007603	phototransduction, visible light	ISS	biological process
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	ISS	biological process
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	ISS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001508	action potential	IEA	biological process
GO:0045634	regulation of melanocyte differentiation	IEA	biological process
GO:0048066	developmental pigmentation	IEA	biological process
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0071467	cellular response to pH	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa05170	Human immunodeficiency virus 1 infection
hsa04022	cGMP-PKG signaling pathway
hsa04934	Cushing syndrome
hsa04270	Vascular smooth muscle contraction
hsa04725	Cholinergic synapse
hsa04935	Growth hormone synthesis, secretion and action
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa05142	Chagas disease
hsa04540	Gap junction
hsa05146	Amoebiasis
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04730	Long-term depression

Diseases

Associated diseases	References
Familial hypocalciuric hypercalcemia	KEGG:H02026
Familial hypocalciuric hypercalcemia	KEGG:H02026
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq