• Gene id: 2781

Gene Summary

• Gene Symbol: GNAZ   Gene   UCSC   Ensembl
• Aliases: gz-alpha
• Gene name: G protein subunit alpha z
• Alternate names: guanine nucleotide-binding protein G(z) subunit alpha, g(x) alpha chain, guanine nucleotide binding protein (G protein), alpha z polypeptide, transducin alpha,
• Gene location: 22q11.22-q11.23 (23070518: 23125036)     Exons: 5     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlea
• OMIM: 139160

Protein Summary

• Protein general information: P19086  
  • Name: Guanine nucleotide binding protein G(z) subunit alpha (G(x) alpha chain) (Gz alpha)
  • Length: 355  
  • Mass: 40924
• Sequence:

  MGCRQSSEEKEAARRSRRIDRHLRSESQRQRREIKLLLLGTSNSGKSTIVKQMKIIHSGGFNLEACKEYKPLIIY
  NAIDSLTRIIRALAALRIDFHNPDRAYDAVQLFALTGPAESKGEITPELLGVMRRLWADPGAQACFSRSSEYHLE
  DNAAYYLNDLERIAAADYIPTVEDILRSRDMTTGIVENKFTFKELTFKMVDVGGQRSERKKWIHCFEGVTAIIFC
  VELSGYDLKLYEDNQTSRMAESLRLFDSICNNNWFINTSLILFLNKKDLLAEKIRRIPLTICFPEYKGQNTYEEA
  AVYIQRQFEDLNRNKETKEIYSHFTCATDTSNIQFVFDAVTDVIIQNNLKYIGLC

• Structural information:
  • Protein Domains: (32..35-)
    (/note="G-alpha-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01230"-)
  • Interpro: IPR001408  IPR001019  IPR011025  IPR027417  
  • Prosite: PS51882
  • CDD: cd00066
  • STRING: ENSP00000478892
• Other Databases: GeneCards:  GNAZ  Malacards:  GNAZ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0031683	G-protein beta/gamma-subunit complex 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:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	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:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005783	endoplasmic reticulum	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:0006457	protein folding	TAS	biological process
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031821	G protein-coupled serotonin receptor binding	IEA	molecular function
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04730	Long-term depression

Diseases

Associated diseases	References
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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