• Gene id: 59345

Gene Summary

• Gene Symbol: GNB4   Gene   UCSC   Ensembl
• Aliases: CMTD1F
• Gene name: G protein subunit beta 4
• Alternate names: guanine nucleotide-binding protein subunit beta-4, G protein beta-4 subunit, guanine nucleotide binding protein (G protein), beta polypeptide 4, transducin beta chain 4,
• Gene location: 3q26.33 (38433690: 38587563)     Exons: 106     NC_000019.10
• 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: 610863

Protein Summary

• Protein general information: Q9HAV0  
  • Name: Guanine nucleotide binding protein subunit beta 4 (Transducin beta chain 4)
  • Length: 340  
  • Mass: 37567
  • Tissue specificity: Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Abundantly expressed in the axons and Schwann cells of peripheral nerves. {ECO
• Sequence:

  MSELEQLRQEAEQLRNQIQDARKACNDATLVQITSNMDSVGRIQMRTRRTLRGHLAKIYAMHWGYDSRLLVSASQ
  DGKLIIWDSYTTNKMHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELPGHTGYLSCCR
  FLDDSQIVTSSGDTTCALWDIETAQQTTTFTGHSGDVMSLSLSPDMRTFVSGACDASSKLWDIRDGMCRQSFTGH
  VSDINAVSFFPNGYAFATGSDDATCRLFDLRADQELLLYSHDNIICGITSVAFSKSGRLLLAGYDDFNCNVWDTL
  KGDRAGVLAGHDNRVSCLGVTDDGMAVATGSWDSFLRIWN

• Structural information:
  • Interpro: IPR020472  IPR001632  IPR016346  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000232564
• Other Databases: GeneCards:  GNB4  Malacards:  GNB4

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
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:0021762	substantia nigra development	HEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	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

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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