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GABRR2 gamma-aminobutyric acid type A receptor rho2 subunit [ Homo sapiens (human) ]

Gene ID: 2570, updated on 7-May-2016
Official Symbol
GABRR2provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor rho2 subunitprovided by HGNC
Primary source
HGNC:HGNC:4091
See related
Ensembl:ENSG00000111886 HPRD:15922; MIM:137162; Vega:OTTHUMG00000015198
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Orthologs
Location:
6q15
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (89256061..89315299, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (89966840..90025018, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene peptidase M20 domain containing 2 Neighboring gene uncharacterized LOC101929004 Neighboring gene gamma-aminobutyric acid type A receptor rho1 subunit Neighboring gene tubulin beta 3 class III pseudogene 1 Neighboring gene ubiquitin conjugating enzyme E2 J1 Neighboring gene Ras related GTP binding D

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • GABA A (rho) receptor activation, organism-specific biosystem (from REACTOME)
    GABA A (rho) receptor activation, organism-specific biosystemGABA A (rho) receptors are highly expressed in the retina and are functional homopentamers of rho subunits. These receptors are formerly called GABA C receptors.
  • GABA receptor activation, organism-specific biosystem (from REACTOME)
    GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
    Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GABA-A receptor activity IEA
Inferred from Electronic Annotation
more info
 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
transport TAS
Traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gamma-aminobutyric acid receptor subunit rho-2
Names
GABA-C receptor, rho-2 subunit
gamma-aminobutyric acid (GABA) A receptor, rho 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033977.2 RefSeqGene

    Range
    5001..65836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002043.4NP_002034.3  gamma-aminobutyric acid receptor subunit rho-2 precursor

    See identical proteins and their annotated locations for NP_002034.3

    Status: REVIEWED

    Source sequence(s)
    AL121833, AW152520, BC130354, BX490975
    Consensus CDS
    CCDS5020.3
    UniProtKB/Swiss-Prot
    P28476
    Related
    ENSP00000386029, OTTHUMP00000016851, ENST00000402938, OTTHUMT00000041482
    Conserved Domains (3) summary
    pfam02931
    Location:62261
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:268461
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    TIGR00860
    Location:51464
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    89256061..89315299 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535713.1XP_011534015.1  

    Conserved Domains (2) summary
    pfam02931
    Location:30217
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:224417
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. XM_011535718.1XP_011534020.1  

    See identical proteins and their annotated locations for XP_011534020.1

    UniProtKB/TrEMBL
    B4DER2
    Conserved Domains (2) summary
    pfam02931
    Location:1162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. XM_011535715.1XP_011534017.1  

    See identical proteins and their annotated locations for XP_011534017.1

    UniProtKB/TrEMBL
    B4DER2
    Conserved Domains (2) summary
    pfam02931
    Location:1162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  4. XM_011535717.1XP_011534019.1  

    See identical proteins and their annotated locations for XP_011534019.1

    UniProtKB/TrEMBL
    B4DER2
    Conserved Domains (2) summary
    pfam02931
    Location:1162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  5. XM_011535716.1XP_011534018.1  

    See identical proteins and their annotated locations for XP_011534018.1

    UniProtKB/TrEMBL
    B4DER2
    Conserved Domains (2) summary
    pfam02931
    Location:1162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  6. XM_011535714.1XP_011534016.1  

    See identical proteins and their annotated locations for XP_011534016.1

    UniProtKB/TrEMBL
    B4DER2
    Conserved Domains (2) summary
    pfam02931
    Location:1162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    90064781..90122809 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)