• Gene id: 2784

Gene Summary

• Gene Symbol: GNB3   Gene   UCSC   Ensembl
• Aliases: CSNB1H
• Gene name: G protein subunit beta 3
• Alternate names: guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3, G protein, beta-3 subunit, GTP-binding regulatory protein beta-3 chain, guanine nucleotide binding protein (G protein), beta polypeptide 3, guanine nucleotide-binding protein G(I)/G(S)/G(T) bet,
• Gene location: 12p13.31 (6840921: 6847392)     Exons: 10     NC_000012.12
• Gene summary(Entrez): Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene enc
• OMIM: 139130

Protein Summary

• Protein general information: P16520  
  • Name: Guanine nucleotide binding protein G(I)/G(S)/G(T) subunit beta 3 (Transducin beta chain 3)
  • Length: 340  
  • Mass: 37221
• Sequence:

  MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQ
  DGKLIVWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCR
  FLDDNNIVTSSGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGH
  ESDINAICFFPNGEAICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSM
  KSERVGILSGHDNRVSCLGVTADGMAVATGSWDSFLKIWN

• Structural information:
  • Interpro: IPR020472  IPR001632  IPR016346  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • DIP: 601
  • STRING: ENSP00000229264
• Other Databases: GeneCards:  GNB3  Malacards:  GNB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006884	cell volume homeostasis	IGI	biological process
GO:1903725	regulation of phospholipid metabolic process	IGI	biological process
GO:0060259	regulation of feeding behavior	IGI	NOT|biological process
GO:0010468	regulation of gene expression	IGI	biological process
GO:0090207	regulation of triglyceride metabolic process	IGI	biological process
GO:0010906	regulation of glucose metabolic process	IGI	biological process
GO:0032350	regulation of hormone metabolic process	IGI	biological process
GO:0090181	regulation of cholesterol metabolic process	IGI	biological process
GO:0090325	regulation of locomotion involved in locomotory behavior	IGI	NOT|biological process
GO:0045598	regulation of fat cell differentiation	IGI	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0031682	G-protein gamma-subunit binding	IBA	molecular function
GO:0051020	GTPase binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0008217	regulation of blood pressure	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030507	spectrin binding	IEA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04014	Ras signaling pathway
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa05034	Alcoholism
hsa05170	Human immunodeficiency virus 1 infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04723	Retrograde endocannabinoid signaling
hsa04371	Apelin signaling pathway
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04926	Relaxin signaling pathway
hsa04725	Cholinergic synapse
hsa04726	Serotonergic synapse
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04713	Circadian entrainment
hsa04742	Taste transduction

Diseases

Associated diseases	References
Congenital stationary night blindness	KEGG:H00787
Congenital stationary night blindness	KEGG:H00787
Hypertension	PMID:10526907
Familial hyperlipidemia	PMID:17161225
Mental depression	PMID:12634518
Carotid artery disease	PMID:12624279
type 2 diabetes mellitus	PMID:18656447
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R