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

    Gene ID: 200959, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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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)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    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 (9) 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

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    General gene information

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    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
    		  
    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 gamma-aminobutyric acid signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    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 plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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

    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.

    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