• Gene id: 2555

Gene Summary

• Gene Symbol: GABRA2   Gene   UCSC   Ensembl
• Aliases: EIEE78
• Gene name: gamma-aminobutyric acid type A receptor subunit alpha2
• Alternate names: gamma-aminobutyric acid receptor subunit alpha-2, GABA(A) receptor subunit alpha-2, gamma-aminobutyric acid type A receptor alpha2 subunit,
• Gene location: 4p12 (46390299: 46243547)     Exons: 14     NC_000004.12
• Gene summary(Entrez): 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 modulated by agents such as benzodiazepines that bind to the GA
• OMIM: 137140

Protein Summary

• Protein general information: P47869  
  • Name: Gamma aminobutyric acid receptor subunit alpha 2 (GABA(A) receptor subunit alpha 2)
  • Length: 451  
  • Mass: 51326
• Sequence:

  MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFTNIYVT
  SFGPVSDTDMEYTIDVFFRQKWKDERLKFKGPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRIQD
  DGTLLYTMRLTVQAECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAPDGSRLNQYDLLGQSI
  GKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
  RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASVMIQNNAYAVAVANYA
  PNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRMSRIVFPVLFGTFNLVYWATYLNREPVLGVS
  P

• Structural information:
  • Interpro: IPR006028  IPR001390  IPR005432  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000421828
• Other Databases: GeneCards:  GABRA2  Malacards:  GABRA2

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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	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:1904862	inhibitory synapse assembly	ISS	biological process
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:1902476	chloride transmembrane transport	IDA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IDA	molecular function
GO:1902711	GABA-A receptor complex	IDA	cellular component
GO:0030285	integral component of synaptic vesicle membrane	IDA	cellular component
GO:0006836	neurotransmitter transport	IMP	biological process
GO:0001505	regulation of neurotransmitter levels	IMP	biological process
GO:0008503	benzodiazepine receptor activity	IMP	molecular function
GO:0007214	gamma-aminobutyric acid signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04723	Retrograde endocannabinoid signaling
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04742	Taste transduction
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
autistic disorder	PMID:16080114
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray