• Gene id: 2562

Gene Summary

• Gene Symbol: GABRB3   Gene   UCSC   Ensembl
• Aliases: ECA5, EIEE43
• Gene name: gamma-aminobutyric acid type A receptor subunit beta3
• Alternate names: gamma-aminobutyric acid receptor subunit beta-3, GABA-alpha receptor beta-2 subunit, GABAA receptor beta-3 subunit, gamma-aminobutyric acid (GABA) A receptor, beta 3, gamma-aminobutyric acid A receptor beta 3, gamma-aminobutyric acid type A receptor beta3 subu,
• Gene location: 15q12 (26773762: 26543545)     Exons: 18     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian
• OMIM: 137192

Protein Summary

• Protein general information: P28472  
  • Name: Gamma aminobutyric acid receptor subunit beta 3 (GABA(A) receptor subunit beta 3)
  • Length: 473  
  • Mass: 54116
• Sequence:

  MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMV
  SEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVL
  YGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVF
  ATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKI
  PYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNRVDAHGNILLTSLEVH
  NEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRSLPHKKTHLRRRSSQLKIKIPDLTDVNAIDR
  WSRIVFPFTFSLFNLVYWLYYVN

• Structural information:
  • Interpro: IPR006028  IPR002289  IPR006202  IPR036734  IPR006201   IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • PDB: 4COF 5O8F 5OJM 6A96 6HUG 6HUJ 6HUK 6HUO 6HUP 6I53
  • PDBsum: 4COF 5O8F 5OJM 6A96 6HUG 6HUJ 6HUK 6HUO 6HUP 6I53
  • DIP: 61029
  • STRING: ENSP00000308725
• Other Databases: GeneCards:  GABRB3  Malacards:  GABRB3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005887	integral component of plasma membrane	IBA	cellular component
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0071420	cellular response to histamine	IDA	biological process
GO:1904862	inhibitory synapse assembly	IDA	biological process
GO:1902711	GABA-A receptor complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0022851	GABA-gated chloride ion channel activity	ISS	molecular function
GO:1902476	chloride transmembrane transport	ISS	biological process
GO:1902476	chloride transmembrane transport	IMP	biological process
GO:0022851	GABA-gated chloride ion channel activity	IMP	molecular function
GO:0004890	GABA-A receptor activity	IMP	molecular function
GO:0022851	GABA-gated chloride ion channel activity	IMP	molecular function
GO:1902711	GABA-A receptor complex	ISS	cellular component
GO:0060021	roof of mouth development	ISS	biological process
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:1902711	GABA-A receptor complex	IMP	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	IMP	biological process
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0004890	GABA-A receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:1904862	inhibitory synapse assembly	IEA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IEA	molecular function
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:1902711	GABA-A receptor complex	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0090102	cochlea development	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0060119	inner ear receptor cell development	IEA	biological process
GO:0060080	inhibitory postsynaptic potential	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	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

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04723	Retrograde endocannabinoid signaling
hsa04726	Serotonergic synapse
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Childhood absence epilepsy	KEGG:H02215
Early infantile epileptic encephalopathy	KEGG:H00606
Childhood absence epilepsy	KEGG:H02215
Childhood absence epilepsy	PMID:16835263
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray