• Gene id: 2567

Gene Summary

• Gene Symbol: GABRG3   Gene   UCSC   Ensembl
• Gene name: gamma-aminobutyric acid type A receptor subunit gamma3
• Alternate names: gamma-aminobutyric acid receptor subunit gamma-3, GABA(A) receptor subunit gamma-3, GABA(G) receptor, gamma 3, gamma-aminobutyric acid (GABA) A receptor, gamma 3, gamma-aminobutyric acid type A receptor gamma3 subunit,
• Gene location: 15q12 (26971180: 27541983)     Exons: 14     NC_000015.10
• Gene summary(Entrez): This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be mo
• OMIM: 300595

Protein Summary

• Protein general information: Q99928  
  • Name: Gamma aminobutyric acid receptor subunit gamma 3 (GABA(A) receptor subunit gamma 3)
  • Length: 467  
  • Mass: 54289
• Sequence:

  MAPKLLLLLCLFSGLHARSRKVEEDEYEDSSSNQKWVLAPKSQDTDVTLILNKLLREYDKKLRPDIGIKPTVIDV
  DIYVNSIGPVSSINMEYQIDIFFAQTWTDSRLRFNSTMKILTLNSNMVGLIWIPDTIFRNSKTAEAHWITTPNQL
  LRIWNDGKILYTLRLTINAECQLQLHNFPMDEHSCPLIFSSYGYPKEEMIYRWRKNSVEAADQKSWRLYQFDFMG
  LRNTTEIVTTSAGDYVVMTIYFELSRRMGYFTIQTYIPCILTVVLSWVSFWIKKDATPARTALGITTVLTMTTLS
  TIARKSLPRVSYVTAMDLFVTVCFLFVFAALMEYATLNYYSSCRKPTTTKKTTSLLHPDSSRWIPERISLQAPSN
  YSLLDMRPPPTAMITLNNSVYWQEFEDTCVYECLDGKDCQSFFCCYEECKSGSWRKGRIHIDILELDSYSRVFFP
  TSFLLFNLVYWVGYLYL

• Structural information:
  • Interpro: IPR006028  IPR005440  IPR005437  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000479113
• Other Databases: GeneCards:  GABRG3  Malacards:  GABRG3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004890	GABA-A receptor activity	IBA	contributes to
GO:0007165	signal transduction	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0050877	nervous system process	IBA	biological process
GO:0051932	synaptic transmission, GABAergic	IBA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IBA	biological process
GO:0098794	postsynapse	IBA	cellular component
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:0005237	inhibitory extracellular ligand-gated ion channel activity	IBA	molecular function
GO:0005254	chloride channel activity	IBA	contributes to
GO:0005254	chloride channel activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	IBA	biological process
GO:0008503	benzodiazepine receptor activity	IBA	contributes to
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0032590	dendrite membrane	IBA	cellular component
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:1902711	GABA-A receptor complex	IBA	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0099699	integral component of synaptic membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04723	Retrograde endocannabinoid signaling
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq