• Gene id: 200959

Gene Summary

• Gene Symbol: GABRR3   Gene   UCSC   Ensembl
• Gene name: gamma-aminobutyric acid type A receptor subunit rho3
• Alternate names: gamma-aminobutyric acid receptor subunit rho-3, GABA(A) receptor subunit rho-3, GABA(C) receptor, gamma-aminobutyric acid (GABA) A receptor, rho 3, gamma-aminobutyric acid type A receptor rho3 subunit,
• Gene location: 3q11.2 (98035303: 97986682)     Exons: 10     NC_000003.12
• Gene summary(Entrez): The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors

Protein Summary

• Protein general information: A8MPY1  
  • Name: Gamma aminobutyric acid receptor subunit rho 3 (GABA(A) receptor subunit rho 3) (GABA(C) receptor)
  • Length: 467  
  • Mass: 54272
• Sequence:

  MVLAFQLVSFTYIWIILKPNVCAASNIKMTHQRCSSSMKQTCKQETRMKKDDSTKARPQKYEQLLHIEDNDFAMR
  PGFGGSPVPVGIDVHVESIDSISETNMDFTMTFYLRHYWKDERLSFPSTANKSMTFDHRLTRKIWVPDIFFVHSK
  RSFIHDTTMENIMLRVHPDGNVLLSLRITVSAMCFMDFSRFPLDTQNCSLELESYAYNEDDLMLYWKHGNKSLNT
  EEHMSLSQFFIEDFSASSGLAFYSSTGWYNRLFINFVLRRHVFFFVLQTYFPAILMVMLSWVSFWIDRRAVPARV
  SLGITTVLTMSTIITAVSASMPQVSYLKAVDVYLWVSSLFVFLSVIEYAAVNYLTTVEERKQFKKTGKISRMYNI
  DAVQAMAFDGCYHDSEIDMDQTSLSLNSEDFMRRKSICSPSTDSSRIKRRKSLGGHVGRIILENNHVIDTYSRIL
  FPIVYILFNLFYWGVYV

• Structural information:
  • Interpro: IPR006028  IPR006202  IPR036734  IPR006201  IPR036719   IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000481321
• Other Databases: GeneCards:  GABRR3  Malacards:  GABRR3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0004890	GABA-A receptor activity	IBA	contributes to
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:0007268	chemical synaptic transmission	NAS	biological process
GO:0004890	GABA-A receptor activity	NAS	molecular function
GO:0007214	gamma-aminobutyric acid signaling pathway	NAS	biological process
GO:0005575	cellular_component	ND	cellular component
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: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:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	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:0005886	plasma membrane	TAS	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq