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

    Gene ID: 2570, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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. Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa. Marcos I, et al. J Med Genet, 2000 Jun. PMID 10851258, Free PMC Article
    5. Suppression of neuronal hyperexcitability and associated delayed neuronal death by adenoviral expression of GABA(C) receptors. Cheng Q, et al. J Neurosci, 2001 May 15. PMID 11331372, Free PMC Article

    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

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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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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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

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    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_002043.5 → 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_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_047418599.1 → 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.

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