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

Gene ID: 2570, updated on 27-Nov-2024

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; AllianceGenome:HGNC:4091
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
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Genomic context

See GABRR2 in Genome Data Viewer
Location:
6q15
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89254464..89315299, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (90463740..90524560, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (89964183..90025018, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene peptidase M20 domain containing 2 Neighboring gene uncharacterized LOC101929004 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:89843600-89844238 Neighboring gene NANOG hESC enhancer GRCh37_chr6:89844239-89844876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17386 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17388 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:90007048-90008247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24822 Neighboring gene tubulin beta 3 class III pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:90061747-90062696 Neighboring gene ubiquitin conjugating enzyme E2 J1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24824 Neighboring gene Sharpr-MPRA regulatory region 13381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:90084816-90085316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:90085317-90085817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24828 Neighboring gene Ras related GTP binding D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17394

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GABA-A receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables GABA-gated chloride ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit rho-2
Names
GABA-C receptor, rho-2 subunit
GABAAR subunit rho-2
gamma-aminobutyric acid (GABA) A receptor, rho 2
gamma-aminobutyric acid type A receptor rho2 subunit

NCBI Reference Sequences (RefSeq)

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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
    A2BDE4, P28476, Q9H153
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047418599.1XP_047274555.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X1

  2. XM_011535715.4XP_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
  3. XM_011535717.4XP_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
  4. XM_011535716.4XP_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
  5. XM_011535714.4XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    90463740..90524560 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355077.1XP_054211052.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

  2. XM_054355079.1XP_054211054.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

  3. XM_054355078.1XP_054211053.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

  4. XM_054355076.1XP_054211051.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

  5. XM_054355075.1XP_054211050.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X1