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

Gene ID: 2570, updated on 4-Jun-2020

Summary

Official Symbol
GABRR2provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit rho2provided by HGNC
Primary source
HGNC:HGNC:4091
See related
Ensembl:ENSG00000111886 MIM:137162
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 subunit rho1 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter receptor 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 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
 
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
gamma-aminobutyric acid type A receptor rho2 subunit

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_002043.5NP_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, ENST00000402938.4
    Conserved Domains (1) summary
    cl27321
    Location:51464
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 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
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