U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 2570, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
6q15
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89254464..89315299, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (90463740..90524560, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Genetic Polymorphism of GABRR2 Modulates Individuals' General Cognitive Ability in Healthy Chinese Han People. Ma Z, et al. Cell Mol Neurobiol, 2017 Jan. PMID 26922432
  2. Are presynaptic GABA-Cρ2 receptors involved in anti-nociception? Tadavarty R, et al. Neurosci Lett, 2015 Oct 8. PMID 26327143
  3. Evaluation of neurotransmitter receptor gene expression identifies GABA receptor changes: a follow-up study in antipsychotic-naïve patients with first-episode psychosis. Ota VK, et al. J Psychiatr Res, 2014 Sep. PMID 24935901
  4. Molecular modeling of ligand-receptor interactions in GABA C receptor. Osolodkin DI, et al. J Mol Graph Model, 2009 Apr. PMID 19167917
  5. Molecular and physiological evidence for functional gamma-aminobutyric acid (GABA)-C receptors in growth hormone-secreting cells. Gamel-Didelon K, et al. J Biol Chem, 2003 May 30. PMID 12660236

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GABAergic genes interacting with parenting in adolescent depressive symptoms: GABRR2 X perceived parental support interaction.
    Title: Gene-based interaction analysis shows GABAergic genes interacting with parenting in adolescent depressive symptoms.
  2. The genetic variant of GABRR2 gene contributes to the difference of individuals' general cognitive ability in a Chinese Han population.
    Title: Genetic Polymorphism of GABRR2 Modulates Individuals' General Cognitive Ability in Healthy Chinese Han People.
  3. GABRR2 and CHRNA3 were found to be differentially expressed after risperidone treatment. These genes may be regulated by antipsychotic use.
    Title: Neurotransmitter receptor and regulatory gene expression in peripheral blood of Brazilian drug-naïve first-episode psychosis patients before and after antipsychotic treatment.
  4. significant involvement of alpha (GABRA6) and beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility in north Indian population
    Title: Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.
  5. found no significant differences in either the frequencies of the GABRR1-M26V, GABRR1- H27R, GABRR2-T455M, and GABRR3-Y205X genotypes or in the frequencies of the allelic variants of these polymorphisms in patients with essential tremor
    Title: Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.
  6. GABRR1 and GABRR2 encode the GABA-A receptor subunits rho1 and rho2 and are associated with alcohol dependence
    Title: GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence.
  7. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
  8. association between serum creatinine level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12
    Title: A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
  9. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
  10. Molecular modeling of ligand-receptor interactions of gamma-aminobutyric acid type C receptor rho1, human.
    Title: Molecular modeling of ligand-receptor interactions in GABA C receptor.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables neurotransmitter receptor 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
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
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transmembrane transporter complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_002043.5 → NP_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:51 → 464
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047418599.1 → XP_047274555.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X1

  2. XM_011535715.4 → XP_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:1 → 162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169 → 362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  3. XM_011535717.4 → XP_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:1 → 162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169 → 362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  4. XM_011535716.4 → XP_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:1 → 162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169 → 362
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  5. XM_011535714.4 → XP_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:1 → 162
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:169 → 362
    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_054355077.1 → XP_054211052.1  gamma-aminobutyric acid receptor subunit rho-2 isoform X2

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28476.5 GenPept UniProtKB/Swiss-Prot:P28476

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous