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

Gene ID: 9568, updated on 29-Mar-2020

Summary

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
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; 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

Genomic context

See GABBR2 in Genome Data Viewer
Location:
9q22.33
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (98288104..98708935, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101050364..101471479, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 8B pseudogene Neighboring gene TBC1 domain family member 2 Neighboring gene microRNA 6854 Neighboring gene GATA motif-containing MPRA enhancer 175 Neighboring gene septin 7 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 5777 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Early infantile epileptic encephalopathy 59
MedGen: C4693550 OMIM: 617904 GeneReviews: Not available
Compare labs
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
MedGen: C4693546 OMIM: 617903 GeneReviews: Not available
Compare labs
Tobacco addiction, susceptibility to
MedGen: C1861063 OMIM: 188890 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
G protein-coupled receptor heterodimeric complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor heterodimeric complex IPI
Inferred from Physical Interaction
more info
PubMed 
GABA receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_005458.8NP_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
    UniProtKB/TrEMBL
    H9NIL8
    Related
    ENSP00000259455.2, ENST00000259455.4
    Conserved Domains (2) summary
    cd06366
    Location:58443
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    cd15294
    Location:480749
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    98288104..98708935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_005252316.5XP_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:235487
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    cl10011
    Location:1185
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  3. XM_017015332.2XP_016870821.1  gamma-aminobutyric acid type B receptor subunit 2 isoform X2

    Conserved Domains (2) summary
    pfam00003
    Location:235487
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    cl10011
    Location:1185
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
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