• Gene id: 2566

Gene Summary

• Gene Symbol: GABRG2   Gene   UCSC   Ensembl
• Aliases: CAE2, ECA2, EIEE74, FEB8, GEFSP3
• Gene name: gamma-aminobutyric acid type A receptor subunit gamma2
• Alternate names: gamma-aminobutyric acid receptor subunit gamma-2, GABA(A) receptor subunit gamma-2, GABA(A) receptor, gamma 2, gamma-aminobutyric acid (GABA) A receptor, gamma 2, gamma-aminobutyric acid type A receptor gamma2 subunit,
• Gene location: 5q34 (162067464: 162155538)     Exons: 13     NC_000005.10
• Gene summary(Entrez): This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of p
• OMIM: 137164

Protein Summary

• Protein general information: P18507  
  • Name: Gamma aminobutyric acid receptor subunit gamma 2 (GABA(A) receptor subunit gamma 2)
  • Length: 467  
  • Mass: 54162
• Sequence:

  MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPKVPEGDVTVILNNLLE
  GYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQTWYDRRLKFNSTIKVLRLNSNMVGKIWIPDT
  FFRNSKKADAHWITTPNRMLRIWNDGRVLYTLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRS
  SVEVGDTRSWRLYQFSFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
  VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFVSNRKPSKDKDKKKKN
  PAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCCFEDCRTGAWRHGRIHIRIAKMDSYARIFFP
  TAFCLFNLVYWVSYLYL

• Structural information:
  • Interpro: IPR006028  IPR005439  IPR005437  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • PDB: 6D6T 6D6U 6HUG 6HUJ 6HUK 6HUO 6HUP 6I53
  • PDBsum: 6D6T 6D6U 6HUG 6HUJ 6HUK 6HUO 6HUP 6I53
  • STRING: ENSP00000410732
• Other Databases: GeneCards:  GABRG2  Malacards:  GABRG2

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: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:1904862	inhibitory synapse assembly	IDA	biological process
GO:1904862	inhibitory synapse assembly	IDA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IDA	contributes to
GO:0004890	GABA-A receptor activity	ISS	molecular function
GO:1902476	chloride transmembrane transport	ISS	biological process
GO:0071420	cellular response to histamine	ISS	biological process
GO:1902711	GABA-A receptor complex	ISS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005254	chloride channel activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008503	benzodiazepine receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:1902711	GABA-A receptor complex	IEA	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0071420	cellular response to histamine	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:1904862	inhibitory synapse assembly	IEA	biological process
GO:0051932	synaptic transmission, GABAergic	ISS	biological process
GO:0032590	dendrite membrane	ISS	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

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
Febrile seizures	KEGG:H00783
Childhood absence epilepsy	KEGG:H02215
Febrile seizures	KEGG:H00783
Childhood absence epilepsy	KEGG:H02215
Childhood absence epilepsy	PMID:12117362
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			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