• Gene id: 2570

Gene Summary

• Gene Symbol: GABRR2   Gene   UCSC   Ensembl
• Gene name: gamma-aminobutyric acid type A receptor subunit rho2
• Alternate names: gamma-aminobutyric acid receptor subunit rho-2, GABA-C receptor, rho-2 subunit, gamma-aminobutyric acid (GABA) A receptor, rho 2, gamma-aminobutyric acid type A receptor rho2 subunit,
• Gene location: 6q15 (89315298: 89254463)     Exons: 10     NC_000006.12
• Gene summary(Entrez): Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a compo
• OMIM: 154270

SNPs

rs761237686

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.244605785_244605790del
NC_000001.10   g.244769087_244769092del
NG_029082.1   g.149415_149420del
NM_173807.5   c.2394_2399del
NM_173807.4   c.2394_2399del
NM_001130957.2   c.2394_2399del
NM_001130957.1   c.2394_2399del
NM_001242340.1   c.1941_1946del

Protein Summary

• Protein general information: P28476  
  • Name: Gamma aminobutyric acid receptor subunit rho 2 (GABA(A) receptor subunit rho 2) (GABA(C) receptor)
  • Length: 465  
  • Mass: 54151
• Sequence:

  MPYFTRLILFLFCLMVLVESRKPKRKRWTGQVEMPKPSHLYKKNLDVTKIRKGKPQQLLRVDEHDFSMRPAFGGP
  AIPVGVDVQVESLDSISEVDMDFTMTLYLRHYWKDERLAFSSASNKSMTFDGRLVKKIWVPDVFFVHSKRSFTHD
  TTTDNIMLRVFPDGHVLYSMRITVTAMCNMDFSHFPLDSQTCSLELESYAYTDEDLMLYWKNGDESLKTDEKISL
  SQFLIQKFHTTSRLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMVMLSWVSFWIDRRAVPARVSLGITT
  VLTMTTIITGVNASMPRVSYVKAVDIYLWVSFVFVFLSVLEYAAVNYLTTVQERKERKLREKFPCMCGMLHSKTM
  MLDGSYSESEANSLAGYPRSHILTEEERQDKIVVHLGLSGEANAARKKGLLKGQTGFRIFQNTHAIDKYSRLIFP
  ASYIFFNLIYWSVFS

• Structural information:
  • Interpro: IPR006028  IPR008059  IPR008057  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000386029
• Other Databases: GeneCards:  GABRR2  Malacards:  GABRR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0004890	GABA-A receptor activity	IBA	contributes to
GO:0045202	synapse	IBA	cellular component
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: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:0034707	chloride channel complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
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:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process

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
autistic disorder	PMID:16080114
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq