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

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; 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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Structural Basis for Activation of the Heterodimeric GABAB Receptor.
Title: Structural Basis for Activation of the Heterodimeric GABA(B) Receptor.
Structure of human GABAB receptor in an inactive state.
Title: Structure of human GABA(B) receptor in an inactive state.
Structures of metabotropic GABAB receptor.
Title: Structures of metabotropic GABA(B) receptor.
Structural basis of the activation of a metabotropic GABA receptor.
Title: Structural basis of the activation of a metabotropic GABA receptor.
GABA B receptor expression in myometrium
Title: Profiling of GABA(A) and GABA(B) receptor expression in the myometrium of the human uterus.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17868 (e-PCR)
- UniSTS:44305

SHGC-145933 (e-PCR)
- UniSTS:174886

RH68438 (e-PCR)
- UniSTS:49201

G10723 (e-PCR)
- UniSTS:24666

SHGC-149617 (e-PCR)
- UniSTS:184925

RH18328 (e-PCR)
- UniSTS:65633

SHGC-34267 (e-PCR)
- UniSTS:73847

RH18549 (e-PCR)
- UniSTS:32655

GPR51_2329 (e-PCR)
- UniSTS:280728

GPR51 (e-PCR)
- UniSTS:480153

D9S763 (e-PCR)
- UniSTS:34722

SHGC-32035 (e-PCR)
- UniSTS:1981

SHGC-79744 (e-PCR)
- UniSTS:101076

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

NG_016426.1 RefSeqGene

Range

5263..426089

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

98288109..98708935 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060933.1 Alternate T2T-CHM13v2.0

Range

110460053..110880595 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364210.1 → XP_054220185.1 gamma-aminobutyric acid type B receptor subunit 2 isoform X1
XM_054364211.1 → XP_054220186.1 gamma-aminobutyric acid type B receptor subunit 2 isoform X2
XM_054364212.1 → XP_054220187.1 gamma-aminobutyric acid type B receptor subunit 2 isoform X2