Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 2570, updated on 2-Oct-2018

    Summary

    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 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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See GABRR2 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (89254464..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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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).
    • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
      MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
    • 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,...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to extracellular ligand-gated ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nervous system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit rho-2
    Names
    GABA-C receptor, rho-2 subunit
    gamma-aminobutyric acid (GABA) A receptor, rho 2

    NCBI Reference Sequences (RefSeq)

    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
      ENSP00000386029.4, OTTHUMP00000016851, ENST00000402938.3, OTTHUMT00000041482
      Conserved Domains (1) summary
      cl27321
      Location:51464
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      89254464..89315299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535715.3XP_011534017.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

      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
    2. XM_011535717.3XP_011534019.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

      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
    3. XM_011535716.3XP_011534018.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

      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
    4. XM_011535714.3XP_011534016.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

      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
    5. XM_011535713.2XP_011534015.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X1

      Conserved Domains (2) summary
      pfam02931
      Location:29217
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:224417
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    Support Center