Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
GABRR2 gamma-aminobutyric acid type A receptor subunit rho2		Homo sapiens	11	protein-coding	ZACN , HTR3B , HTR3A , CHRNA9 , HTR3C , HTR3D , HTR3E , CHRNA10 , CHRNG , CHRNB1 , CHRND , CHRNE , CHRNB4 , CHRNB2 , CHRNB3 , CHRNA5 , CHRNA3 , CHRNA6 , CHRNA4 , CHRNA1 , CHRNA2 , CHRFAM7A , CHRNA7 , GABRE , GABRG3 , GABRG1 , GABRG2 , GABRA2 , GABRA3 , GABRA5 , GABRA1 , GABRA4 , GABRA6 , GABRD , GABRQ , GABRP , GABRB1 , GABRB3 , GABRR3 , GABRR1 , GABRB2 , GLRB , GLRA2 , GLRA1 , GLRA3		137162

Summary

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 component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]

GeneOntology

Function (1)

Go ID	Value	Evidence
0004890	enables GABA-A receptor activity	IBA

Component (10)

Go ID	Value	Evidence
1902711	part_of GABA-A receptor complex	IBA
0098982	located_in GABA-ergic synapse	IEA
0034707	part_of chloride channel complex	IEA
0097708	located_in intracellular vesicle	IEA
0043005	is_active_in neuron projection	IBA
0005886	is_active_in plasma membrane	IBA
0005886	located_in plasma membrane	TAS
0045211	located_in postsynaptic membrane	IEA
0045202	is_active_in synapse	IBA
1902495	part_of transmembrane transporter complex	IBA

Process (8)

Go ID	Value	Evidence
0007268	involved_in chemical synaptic transmission	IBA
0007268	involved_in chemical synaptic transmission	TAS
1902476	involved_in chloride transmembrane transport	IBA
0007214	involved_in gamma-aminobutyric acid signaling pathway	IEA
0042391	involved_in regulation of membrane potential	IBA
0060078	involved_in regulation of postsynaptic membrane potential	IEA
0007165	involved_in signal transduction	TAS
0007601	involved_in visual perception	IEA

Gene Loss events - GABRR2 (2 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_ZMQUDW	Chrysochloris asiatica	Afrosoricida	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_ZT2L0T	Nannospalax galili	Rodentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004