• Gene id: 2768

Gene Summary

• Gene Symbol: GNA12   Gene   UCSC   Ensembl
• Aliases: NNX3, RMP, gep
• Gene name: G protein subunit alpha 12
• Alternate names: guanine nucleotide-binding protein subunit alpha-12, WUGSC:H_GS165O14.2, g alpha-12, guanine nucleotide binding protein (G protein) alpha 12,
• Gene location: 7p22.3-p22.2 (2844307: 2728104)     Exons: 22     NC_000007.14
• OMIM: 604394

Protein Summary

• Protein general information: Q03113  
  • Name: Guanine nucleotide binding protein subunit alpha 12 (G alpha 12) (G protein subunit alpha 12)
  • Length: 381  
  • Mass: 44279
• Sequence:

  MSGVVRTLSRCLLPAEAGGARERRAGSGARDAEREARRRSRDIDALLARERRAVRRLVKILLLGAGESGKSTFLK
  QMRIIHGREFDQKALLEFRDTIFDNILKGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQLY
  VPALSALWRDSGIREAFSRRSEFQLGESVKYFLDNLDRIGQLNYFPSKQDILLARKATKGIVEHDFVIKKIPFKM
  VDVGGQRSQRQKWFQCFDGITSILFMVSSSEYDQVLMEDRRTNRLVESMNIFETIVNNKLFFNVSIILFLNKMDL
  LVEKVKTVSIKKHFPDFRGDPHRLEDVQRYLVQCFDRKRRNRSKPLFHHFTTAIDTENVRFVFHAVKDTILQENL
  KDIMLQ

• Structural information:
  • Protein Domains: (56..38-)
    (/note="G-alpha-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01230"-)
  • Interpro: IPR000469  IPR001019  IPR011025  IPR027417  
  • Prosite: PS51882
  • CDD: cd00066
  • STRING: ENSP00000275364
• Other Databases: GeneCards:  GNA12  Malacards:  GNA12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0031526	brush border membrane	IBA	cellular component
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0031752	D5 dopamine receptor binding	IBA	molecular function
GO:0001664	G protein-coupled receptor binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0032006	regulation of TOR signaling	IMP	biological process
GO:0010762	regulation of fibroblast migration	ISS	biological process
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:0007266	Rho protein 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:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007596	blood coagulation	TAS	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:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0042493	response to drug	IEA	biological process
GO:0031752	D5 dopamine receptor binding	IEA	molecular function
GO:0031526	brush border membrane	IEA	cellular component
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0032006	regulation of TOR signaling	IEA	biological process
GO:0010762	regulation of fibroblast migration	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa05163	Human cytomegalovirus infection
hsa05130	Pathogenic Escherichia coli infection
hsa04022	cGMP-PKG signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04071	Sphingolipid signaling pathway
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04730	Long-term depression
hsa05200	Pathways in cancer
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04010	MAPK signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05163	Human cytomegalovirus infection
hsa04270	Vascular smooth muscle contraction
hsa04810	Regulation of actin cytoskeleton
hsa04071	Sphingolipid signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04730	Long-term depression
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Ulcerative colitis	GAD: 21297633
Depression	GAD: 15221642
Male factor infertility	MIK: 16612612
Low sperm motility	MIK: 16612612
Low sperm motility	MIK: 16612612
Azoospermia	MIK: 16612612
Azoospermia	MIK: 16612612
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq