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GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 [ Homo sapiens (human) ]

Gene ID: 200959, updated on 6-Jul-2025
Official Symbol
GABRR3provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit rho3provided by HGNC
Primary source
HGNC:HGNC:17969
See related
Ensembl:ENSG00000183185 MIM:618668; AllianceGenome:HGNC:17969
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
The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
Annotation information
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression
Low expression observed in reference dataset See more
Orthologs
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See GABRR3 in Genome Data Viewer
Location:
3q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (97985102..98035315, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (100688820..100739024, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (97703946..97754159, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene crystallin beta-gamma domain containing 3 Neighboring gene ribosomal oxygenase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14553 Neighboring gene uncharacterized LOC124909398 Neighboring gene Sharpr-MPRA regulatory region 5379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20130 Neighboring gene Sharpr-MPRA regulatory region 13337 Neighboring gene olfactory receptor family 5 subfamily BM member 1 pseudogene Neighboring gene olfactory receptor family 5 subfamily AC member 1 (gene/pseudogene)

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome. Jiménez-Jiménez FJ, et al. Pharmacogenomics J, 2018 Jul. PMID 29720720
  2. GABA receptor rho subunit expression in the developing rat brain. Alakuijala A, et al. Brain Res Dev Brain Res, 2005 Jan 1. PMID 15617751
  3. Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. Bailey ME, et al. Biochim Biophys Acta, 1999 Oct 28. PMID 10542332
  4. Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor. García-Martín E, et al. J Neurol, 2011 Feb. PMID 20820800
  5. ZIP3, a new splice variant of the PKC-zeta-interacting protein family, binds to GABAC receptors, PKC-zeta, and Kv beta 2. Croci C, et al. J Biol Chem, 2003 Feb 21. PMID 12431995

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These results suggest association between GABRR3 rs832032 polymorphism and the risk for restless legs syndrome , and a modifier effect of GABRA4 rs2229940 on the age of onset of restless legs syndrome .
    Title: Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.
  2. 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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
  4. GABA(C) receptors are specifically involved in aspects of visual image motion processing in the rat brain
    Title: GABA receptor rho subunit expression in the developing rat brain.
Submit: New GeneRIF Correction

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

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp781O1955

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-A receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
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 chloride channel activity IEA
Inferred from Electronic Annotation
more info
  
enables extracellular ligand-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in chemical synaptic transmission NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transport IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
gamma-aminobutyric acid receptor subunit rho-3
Names
GABA(A) receptor subunit rho-3
GABA(C) receptor
GABAAR subunit rho-3
gamma-aminobutyric acid (GABA) A receptor, rho 3
gamma-aminobutyric acid type A receptor rho3 subunit

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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.

mRNA and Protein(s)

  1. NM_001105580.3 → NP_001099050.1  gamma-aminobutyric acid receptor subunit rho-3 precursor

    See identical proteins and their annotated locations for NP_001099050.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the functional allele (SNP rs832032, has Tyr205 versus a stop codon) and encodes the supported protein.
    Source sequence(s)
    AC026100, KF459624
    Consensus CDS
    CCDS54617.1
    UniProtKB/Swiss-Prot
    A8MPY1, Q9UIV9
    Related
    ENSP00000420790.1, ENST00000472788.6
    Conserved Domains (3) summary
    TIGR00860
    Location:55 → 466
    LIC; Cation transporter family protein
    pfam02931
    Location:59 → 267
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:274 → 463
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

  1. NR_047685.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, non-coding) represents the non-functional allele with a premature stop codon (SNP rs832032, Tyr205X), as found in some individuals.
    Source sequence(s)
    AC026100, CR749263, KF459624

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    97985102..98035315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    100688820..100739024 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A8MPY1.2 GenPept UniProtKB/Swiss-Prot:A8MPY1

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
Miscellaneous