• Gene id: 2557

Gene Summary

• Gene Symbol: GABRA4   Gene   UCSC   Ensembl
• Gene name: gamma-aminobutyric acid type A receptor subunit alpha4
• Alternate names: gamma-aminobutyric acid receptor subunit alpha-4, GABA(A) receptor, alpha 4, gamma-aminobutyric acid (GABA) A receptor, alpha 4, gamma-aminobutyric acid A receptor alpha 4, gamma-aminobutyric acid type A receptor alpha4 subunit,
• Gene location: 4p12 (46993580: 46918899)     Exons: 25     NC_000004.12
• Gene summary(Entrez): Gamma-aminobutyric acid (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 benzodiaz
• OMIM: 137141

Protein Summary

• Protein general information: P48169  
  • Name: Gamma aminobutyric acid receptor subunit alpha 4 (GABA(A) receptor subunit alpha 4)
  • Length: 554  
  • Mass: 61623
• Sequence:

  MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVK
  TDIYVTSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNK
  LFRIMRNGTILYTMRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKGPEKSVEVPKESSSLVQYD
  LIGQTVSSETIKSITGEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMT
  TLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEA
  PLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARA
  LPSASPTSIRTGYMPRKASVGSASTRHVFGSRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARIL
  FPVTFGAFNMVYWVVYLSKDTMEKSESLM

• Structural information:
  • Interpro: IPR006028  IPR001390  IPR005434  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000264318
• Other Databases: GeneCards:  GABRA4  Malacards:  GABRA4

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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic 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:0007417	central nervous system development	IEA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:2001023	regulation of response to drug	IEA	biological process
GO:0099060	integral component of postsynaptic specialization 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
hsa04742	Taste transduction
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
autistic disorder	PMID:20066485
autistic disorder	PMID:16770606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R