• Gene id: 2561

Gene Summary

• Gene Symbol: GABRB2   Gene   UCSC   Ensembl
• Aliases: ICEE2
• Gene name: gamma-aminobutyric acid type A receptor subunit beta2
• Alternate names: gamma-aminobutyric acid receptor subunit beta-2, GABA(A) receptor subunit beta-2, gamma-aminobutyric acid A receptor beta 2, gamma-aminobutyric acid type A receptor beta2 subunit,
• Gene location: 5q34 (161548403: 161288428)     Exons: 1     NC_000005.10
• Gene summary(Entrez): The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 i
• OMIM: 600232

Protein Summary

• Protein general information: P47870  
  • Name: Gamma aminobutyric acid receptor subunit beta 2 (GABA(A) receptor subunit beta 2)
  • Length: 512  
  • Mass: 59150
  • Tissue specificity: Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression. {ECO
• Sequence:

  MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVS
  EVNMDYTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLY
  GLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFS
  TGSYPRLSLSFKLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIP
  YVKAIDMYLMGCFVFVFMALLEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKIFYKDIKQNGTQYRSL
  WDPTGNLSPTRRTTNYDFSLYTMDPHENILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASSIQYRKAGLPRHS
  FGRNALERHVAQKKSRLRRRASQLKITIPDLTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN

• Structural information:
  • Interpro: IPR006028  IPR002289  IPR006202  IPR036734  IPR006201   IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • PDB: 6D6T 6D6U
  • PDBsum: 6D6T 6D6U
  • STRING: ENSP00000274547
• Other Databases: GeneCards:  GABRB2  Malacards:  GABRB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0050877	nervous system process	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0045202	synapse	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:0005886	plasma membrane	IDA	cellular component
GO:1902476	chloride transmembrane transport	ISS	biological process
GO:0071420	cellular response to histamine	ISS	biological process
GO:0016917	GABA receptor activity	IMP	contributes to
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: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:0030054	cell junction	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0016020	membrane	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:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004890	GABA-A 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:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0022851	GABA-gated chloride ion channel activity	IEA	molecular function
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:1901215	negative regulation of neuron death	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:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0016917	GABA receptor activity	IEA	molecular function
GO:0051932	synaptic transmission, GABAergic	IEA	biological process
GO:0071420	cellular response to histamine	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0060119	inner ear receptor cell development	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0005237	inhibitory extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1902710	GABA receptor complex	IEA	cellular component
GO:1902711	GABA-A receptor complex	IEA	cellular component
GO:0004890	GABA-A receptor activity	ISS	molecular function
GO:0051932	synaptic transmission, GABAergic	ISS	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0070062	extracellular exosome	HDA	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
Infantile or early childhood epileptic encephalopathy	KEGG:H02150
Infantile or early childhood epileptic encephalopathy	KEGG:H02150
autistic disorder	PMID:16080114
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)