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GABBR2 gamma-aminobutyric acid type B receptor subunit 2 [ Homo sapiens (human) ]

Gene ID: 9568, updated on 2-Nov-2024

Summary

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Official Symbol
GABBR2provided by HGNC
Official Full Name
gamma-aminobutyric acid type B receptor subunit 2provided by HGNC
Primary source
HGNC:HGNC:4507
See related
Ensembl:ENSG00000136928 MIM:607340; AllianceGenome:HGNC:4507
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
Also known as
HG20; DEE59; GPR51; EIEE59; GPRC3B; NDPLHS; GABABR2; HRIHFB2099
Summary
The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]
Expression
Restricted expression toward brain (RPKM 33.5) See more
Orthologs
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Genomic context

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See GABBR2 in Genome Data Viewer
Location:
9q22.33
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (98288109..98708935, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110460053..110880595, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101050391..101471217, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 8B pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101010111-101011028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101011029-101011945 Neighboring gene TBC1 domain family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28696 Neighboring gene MPRA-validated peak7303 silencer Neighboring gene microRNA 6854 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:101036136-101036669 Neighboring gene NANOG hESC enhancer GRCh37_chr9:101036702-101037236 Neighboring gene NANOG hESC enhancer GRCh37_chr9:101037237-101037769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101042021-101042706 Neighboring gene Sharpr-MPRA regulatory region 5055 Neighboring gene GATA motif-containing MPRA enhancer 175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101122073-101122573 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101134501-101135189 Neighboring gene Sharpr-MPRA regulatory region 1904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28697 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:101151090-101151268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101158435-101159110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101159111-101159786 Neighboring gene NANOG hESC enhancer GRCh37_chr9:101164028-101164529 Neighboring gene MPRA-validated peak7304 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:101257622-101258821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101270847-101271377 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101328229-101328729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28698 Neighboring gene Sharpr-MPRA regulatory region 14650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101372736-101373728 Neighboring gene septin 7 pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:101430118-101430303 Neighboring gene uncharacterized LOC124902228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101468843-101469414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101469986-101470556 Neighboring gene Sharpr-MPRA regulatory region 5777 Neighboring gene Sharpr-MPRA regulatory region 9654 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20120 Neighboring gene H3K27ac hESC enhancers GRCh37_chr9:101558100-101558600 and GRCh37_chr9:101558601-101559101 Neighboring gene uncharacterized LOC124902229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20122

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 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. GABAB receptor association with the PDZ scaffold Mupp1 alters receptor stability and function. Balasubramanian S, et al. J Biol Chem, 2007 Feb 9. PMID 17145756
  2. GABAB receptors. Kerr DI, et al. Pharmacol Ther, 1995. PMID 7494864
  3. Ligand-guided homology modelling of the GABAB2 subunit of the GABAB receptor. Freyd T, et al. PLoS One, 2017. PMID 28323850, Free PMC Article
  4. Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9. Ng GY, et al. Genomics, 1999 Mar 15. PMID 10087195
  5. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Yoo Y, et al. Ann Neurol, 2017 Sep. PMID 28856709

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GABBR2 as a Downstream Effector of the Androgen Receptor Induces Cisplatin Resistance in Bladder Cancer.
    Title: GABBR2 as a Downstream Effector of the Androgen Receptor Induces Cisplatin Resistance in Bladder Cancer.
  2. A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.
    Title: A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.
  3. Structural Basis for Activation of the Heterodimeric GABAB Receptor.
    Title: Structural Basis for Activation of the Heterodimeric GABA(B) Receptor.
  4. Structure of human GABAB receptor in an inactive state.
    Title: Structure of human GABA(B) receptor in an inactive state.
  5. Structures of metabotropic GABAB receptor.
    Title: Structures of metabotropic GABA(B) receptor.
  6. Structural basis of the activation of a metabotropic GABA receptor.
    Title: Structural basis of the activation of a metabotropic GABA receptor.
  7. GABA B receptor expression in myometrium
    Title: Profiling of GABA(A) and GABA(B) receptor expression in the myometrium of the human uterus.
  8. We demonstrated that GABBR2 gene might be a novel potential epigenetic treatment target with induction erlotinib treatment for stage IIIa (N2) EGFR 19 deletion lung adenocarcinoma
    Title: Genome-wide DNA Methylation Analysis Reveals GABBR2 as a Novel Epigenetic Target for EGFR 19 Deletion Lung Adenocarcinoma with Induction Erlotinib Treatment.
  9. There was no statistically significant association for the two SNPs of the GABBR1 gene (rs29230 and rs29267). However, a significant difference between AUD individuals and controls was observed at genotype level for rs2900512 of GABBR2 gene.
    Title: Alcohol use disorder and GABA(B) receptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies.
  10. Missense Mutation in GABBR2 gene is associated with Neurodevelopmental Disorders.
    Title: Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
Submit: New GeneRIF Correction See all GeneRIFs (36)

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

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 59
MedGen: C4693550 OMIM: 617904 GeneReviews: Not available
not available
Neurodevelopmental disorder with poor language and loss of hand skills
MedGen: C4693546 OMIM: 617903 GeneReviews: Not available
not available
Tobacco addiction, susceptibility to
MedGen: C1861063 OMIM: 188890 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
EBI GWAS Catalog
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
EBI GWAS Catalog

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

Clone Names

  • FLJ36928

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to G protein-coupled GABA receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of adenylate cyclase activity TAS
Traceable Author Statement
more info
 PubMed 
involved_in neuron-glial cell signaling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in synaptic transmission, GABAergic NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of G protein-coupled GABA receptor complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of G protein-coupled receptor heterodimeric complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of G protein-coupled receptor heterodimeric complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of GABA receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
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 type B receptor subunit 2
Names
G-protein coupled receptor 51
GABA-B receptor 2
GABA-B receptor, R2 subunit
GABA-B-R2
GABA-BR2
gamma-aminobutyric acid (GABA) B receptor, 2
gamma-aminobutyric acid B receptor 2
gb2

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_016426.1 RefSeqGene

    Range
    5263..426089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005458.8 → NP_005449.5  gamma-aminobutyric acid type B receptor subunit 2 precursor

    See identical proteins and their annotated locations for NP_005449.5

    Status: REVIEWED

    Source sequence(s)
    AF056085, AF099033, AJ012188, BC055425, BX420187, BX452140, DB474482
    Consensus CDS
    CCDS6736.1
    UniProtKB/Swiss-Prot
    O75899, O75974, O75975, Q5VXZ2, Q8WX04, Q9P1R2, Q9UNR1, Q9UNS9
    UniProtKB/TrEMBL
    H9NIL8
    Related
    ENSP00000259455.2, ENST00000259455.4
    Conserved Domains (3) summary
    cd15294
    Location:480 → 749
    7tmC_GABA-B-R2; gamma-aminobutyric acid type B receptor subunit 2, member of the class C family of seven-transmembrane G protein-coupled receptors
    pfam18455
    Location:779 → 817
    GBR2_CC; Gamma-aminobutyric acid type B receptor subunit 2 coiled-coil domain
    cd06366
    Location:58 → 460
    PBP1_GABAb_receptor; ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    98288109..98708935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015331.3 → XP_016870820.1  gamma-aminobutyric acid type B receptor subunit 2 isoform X1

  2. XM_005252316.6 → XP_005252373.1  gamma-aminobutyric acid type B receptor subunit 2 isoform X2

    See identical proteins and their annotated locations for XP_005252373.1

    Conserved Domains (2) summary
    pfam00003
    Location:235 → 487
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    cl10011
    Location:1 → 185
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

  3. XM_017015332.3 → XP_016870821.1  gamma-aminobutyric acid type B receptor subunit 2 isoform X2

    Conserved Domains (2) summary
    pfam00003
    Location:235 → 487
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    cl10011
    Location:1 → 185
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    110460053..110880595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364210.1 → XP_054220185.1  gamma-aminobutyric acid type B receptor subunit 2 isoform X1

  2. XM_054364211.1 → XP_054220186.1  gamma-aminobutyric acid type B receptor subunit 2 isoform X2

  3. XM_054364212.1 → XP_054220187.1  gamma-aminobutyric acid type B receptor subunit 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75899.1 GenPept UniProtKB/Swiss-Prot:O75899

Gene LinkOut

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