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Aliases for GABBR2 Gene

Aliases for GABBR2 Gene

  • Gamma-Aminobutyric Acid (GABA) B Receptor, 2 2 3
  • G Protein-Coupled Receptor 51 2 3
  • G-Protein Coupled Receptor 51 3 4
  • GABA-B Receptor 2 3 4
  • GABA-B-R2 3 4
  • GABA-BR2 3 4
  • GABABR2 3 4
  • GPRC3B 3 4
  • GPR51 3 4
  • HG20 3 4
  • Gb2 3 4
  • Gamma-Aminobutyric Acid B Receptor 2 3
  • GABA-B Receptor, R2 Subunit 3
  • HRIHFB2099 3

External Ids for GABBR2 Gene

Previous HGNC Symbols for GABBR2 Gene

  • GPR51

Previous GeneCards Identifiers for GABBR2 Gene

  • GC09M100090
  • GC09M101050
  • GC09M070650

Summaries for GABBR2 Gene

Entrez Gene Summary for GABBR2 Gene

  • 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]

GeneCards Summary for GABBR2 Gene

GABBR2 (Gamma-Aminobutyric Acid (GABA) B Receptor, 2) is a Protein Coding gene. Diseases associated with GABBR2 include nicotine dependence, protection against and sensory neuropathy type 1. Among its related pathways are Signaling by GPCR and Neuroscience. GO annotations related to this gene include G-protein coupled receptor activity and G-protein coupled GABA receptor activity. An important paralog of this gene is GPR156.

UniProtKB/Swiss-Prot for GABBR2 Gene

  • Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception.

Tocris Summary for GABBR2 Gene

  • GABAB receptors are metabotropic G-protein-coupled receptors responsible for mediating the inhibitory effects of GABA alongside ionotropic GABAA and GABAC receptors. They exist as heterodimers of GABAB1 and GABAB2 subunits, with both required for function.

Gene Wiki entry for GABBR2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABBR2 Gene

Genomics for GABBR2 Gene

Regulatory Elements for GABBR2 Gene

Genomic Location for GABBR2 Gene

Chromosome:
9
Start:
98,288,082 bp from pter
End:
98,709,197 bp from pter
Size:
421,116 bases
Orientation:
Minus strand

Genomic View for GABBR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABBR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABBR2 Gene

Proteins for GABBR2 Gene

  • Protein details for GABBR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75899-GABR2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid type B receptor subunit 2
    Protein Accession:
    O75899
    Secondary Accessions:
    • O75974
    • O75975
    • Q5VXZ2
    • Q8WX04
    • Q9P1R2
    • Q9UNR1
    • Q9UNS9

    Protein attributes for GABBR2 Gene

    Size:
    941 amino acids
    Molecular mass:
    105821 Da
    Quaternary structure:
    • Heterodimer of GABBR1 and GABBR2. Homodimers may form, but are inactive. Interacts with ATF4 via its C-terminal region.
    SequenceCaution:
    • Sequence=AAH35071.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GABBR2 Gene

neXtProt entry for GABBR2 Gene

Proteomics data for GABBR2 Gene at MOPED

Post-translational modifications for GABBR2 Gene

  • Glycosylation at Asn 90, Asn 298, Asn 389, Asn 404, and Asn 453
  • Modification sites at PhosphoSitePlus

Other Protein References for GABBR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GABBR2 (GABBR2)

No data available for DME Specific Peptides for GABBR2 Gene

Domains & Families for GABBR2 Gene

Gene Families for GABBR2 Gene

Suggested Antigen Peptide Sequences for GABBR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75899

UniProtKB/Swiss-Prot:

GABR2_HUMAN :
  • Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric interaction with GABBR1
  • Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily.
Domain:
  • Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric interaction with GABBR1
Family:
  • Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily.
genes like me logo Genes that share domains with GABBR2: view

Function for GABBR2 Gene

Molecular function for GABBR2 Gene

UniProtKB/Swiss-Prot Function:
Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception.

Gene Ontology (GO) - Molecular Function for GABBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0004965 contributes_to G-protein coupled GABA receptor activity IDA 9872316
GO:0005515 protein binding IPI 16724110
genes like me logo Genes that share ontologies with GABBR2: view
genes like me logo Genes that share phenotypes with GABBR2: view

Animal Models for GABBR2 Gene

MGI Knock Outs for GABBR2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABBR2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABBR2 Gene

Localization for GABBR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABBR2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Note=Coexpression of GABBR1 and GABBR2 is required for GABBR1 maturation and transport to the plasma membrane. In contrast, GABBR2 does not depend on GABBR1 for transport to the cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABBR2 Gene COMPARTMENTS Subcellular localization image for GABBR2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GABBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 9872316
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABBR2: view

Pathways & Interactions for GABBR2 Gene

genes like me logo Genes that share pathways with GABBR2: view

Pathways by source for GABBR2 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for GABBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway TAS 9872316
GO:0007194 negative regulation of adenylate cyclase activity TAS 10328880
GO:0007214 gamma-aminobutyric acid signaling pathway IDA 9872316
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with GABBR2: view

No data available for SIGNOR curated interactions for GABBR2 Gene

Drugs & Compounds for GABBR2 Gene

(19) Drugs for GABBR2 Gene - From: DGIdb, ApexBio, DrugBank, NovoSeek, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Baclofen Approved Pharma agonist, Target 90
Etomidate Approved Pharma General anesthetic with GABA modulatory and GABA-mimetic actions 51
Flumazenil Approved Pharma Partial agonist, Allosteric regulator Benzodiazepine antagonist 21
Gabapentin Approved, Investigational Pharma GABA enhancer 254
Niflumic Acid Approved Pharma Channel blocker Ca2+-activated Cl- channel blocker 0

(5) Additional Compounds for GABBR2 Gene - From: Tocris and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(RS)-Baclofen
1134-47-0
RuBi GABA trimethylphosphine
SKF 97541
127729-35-5
gaba
56-12-2
glutamate
genes like me logo Genes that share compounds with GABBR2: view

Transcripts for GABBR2 Gene

mRNA/cDNA for GABBR2 Gene

Unigene Clusters for GABBR2 Gene

Gamma-aminobutyric acid (GABA) B receptor, 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABBR2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABBR2 Gene

No ASD Table

Relevant External Links for GABBR2 Gene

GeneLoc Exon Structure for
GABBR2
ECgene alternative splicing isoforms for
GABBR2

Expression for GABBR2 Gene

mRNA expression in normal human tissues for GABBR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABBR2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.0), Brain - Cortex (x9.3), Brain - Anterior cingulate cortex (BA24) (x8.3), Brain - Cerebellum (x4.3), Brain - Cerebellar Hemisphere (x4.3), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for GABBR2 Gene

This gene is overexpressed in Frontal cortex (57.8) and Fetal Brain (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABBR2 Gene



SOURCE GeneReport for Unigene cluster for GABBR2 Gene Hs.198612

mRNA Expression by UniProt/SwissProt for GABBR2 Gene

O75899-GABR2_HUMAN
Tissue specificity: Highly expressed in brain, especially in cerebral cortex, thalamus, hippocampus, frontal, occipital and temporal lobe, occipital pole and cerebellum, followed by corpus callosum, caudate nucleus, spinal cord, amygdala and medulla. Weakly expressed in heart, testis and skeletal muscle.
genes like me logo Genes that share expression patterns with GABBR2: view

Protein tissue co-expression partners for GABBR2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for GABBR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABBR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABBR2 35
  • 93.25 (n)
  • 98.83 (a)
GABBR2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABBR2 35
  • 94.39 (n)
  • 99.56 (a)
GABBR2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabbr2 35
  • 89.54 (n)
  • 98.56 (a)
Gabbr2 16
Gabbr2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABBR2 35
  • 99.11 (n)
  • 99.24 (a)
GABBR2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabbr2 35
  • 89.73 (n)
  • 98.22 (a)
oppossum
(Monodelphis domestica)
Mammalia GABBR2 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABBR2 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABBR2 35
  • 79.46 (n)
  • 91.94 (a)
GABBR2 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABBR2 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabbr2 35
  • 76.02 (n)
  • 88.07 (a)
zebrafish
(Danio rerio)
Actinopterygii gabbr2 35
  • 75.51 (n)
  • 79.61 (a)
gabbr2 36
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGBB2 35
  • 52.83 (n)
  • 42.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta GABA-B-R2 35
  • 51.57 (n)
  • 42.8 (a)
GABA-B-R2 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gbb-2 35
  • 47.74 (n)
  • 38.7 (a)
gbb-2 36
  • 33 (a)
OneToOne
Species with no ortholog for GABBR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABBR2 Gene

ENSEMBL:
Gene Tree for GABBR2 (if available)
TreeFam:
Gene Tree for GABBR2 (if available)

Paralogs for GABBR2 Gene

Paralogs for GABBR2 Gene

(1) SIMAP similar genes for GABBR2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GABBR2: view

Variants for GABBR2 Gene

Sequence variations from dbSNP and Humsavar for GABBR2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs13956 -- 98,288,371(-) TCACC(C/G)ATTTT utr-variant-3-prime
rs191411 -- 98,703,949(-) ATATA(A/T)AAATC intron-variant
rs337525 -- 98,685,059(+) cagat(C/T)caccc intron-variant
rs337526 -- 98,685,594(+) CTAGA(A/T)TATCA intron-variant
rs337527 -- 98,685,681(+) AACTA(C/T)AGttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABBR2 Gene

Variant ID Type Subtype PubMed ID
nsv831663 CNV Loss 17160897
nsv831664 CNV Gain+Loss 17160897
nsv519818 CNV Gain 19592680
esv269680 CNV Insertion 20981092
esv273169 CNV Insertion 20981092
nsv831665 CNV Gain 17160897
esv2738822 CNV Deletion 23290073
esv2328336 CNV Deletion 18987734
esv2738823 CNV Deletion 23290073
nsv415967 CNV Loss 16902084
esv2738824 CNV Deletion 23290073
esv2661422 CNV Deletion 23128226
esv5443 CNV Loss 19470904
nsv6629 CNV Insertion 18451855
nsv6630 CNV Loss 18451855
esv2665472 CNV Deletion 23128226
esv2738825 CNV Deletion 23290073
nsv511424 CNV Gain 21212237
nsv6633 CNV Loss 18451855
esv996617 CNV Gain 20482838
esv4244 CNV Deletion 18987735
dgv1229n67 CNV Loss 20364138
nsv821298 CNV Deletion 20802225
nsv515117 CNV Loss 21397061
esv2738826 CNV Deletion 23290073
esv21712 CNV Gain 19812545
esv6610 CNV Loss 19470904
esv2660923 CNV Deletion 23128226
nsv499735 CNV Loss 21111241
esv990637 CNV Gain 20482838
dgv8264n71 CNV Gain 21882294
esv2476007 CNV Deletion 19546169
nsv512109 CNV Loss 21212237
esv2173122 CNV Deletion 18987734
esv2668692 CNV Deletion 23128226
nsv415863 CNV Loss 16902084
esv1732633 CNV Deletion 17803354
esv6836 CNV Loss 19470904
nsv524087 CNV Loss 19592680
nsv466440 CNV Loss 19166990
nsv522461 CNV Loss 19592680
nsv466441 CNV Loss 19166990
nsv893616 CNV Gain 21882294
nsv825007 CNV Gain 20364138
nsv819653 CNV Gain 19587683

Variation tolerance for GABBR2 Gene

Residual Variation Intolerance Score: 5.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.87; 79.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABBR2 Gene

HapMap Linkage Disequilibrium report
GABBR2
Human Gene Mutation Database (HGMD)
GABBR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABBR2 Gene

Disorders for GABBR2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GABBR2 Gene - From: OMIM, ClinVar, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
nicotine dependence, protection against
  • nicotine dependence
sensory neuropathy type 1
temporal lobe epilepsy
  • epilepsy, temporal lobe
- elite association

Relevant External Links for GABBR2

Genetic Association Database (GAD)
GABBR2
Human Genome Epidemiology (HuGE) Navigator
GABBR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABBR2
genes like me logo Genes that share disorders with GABBR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABBR2 Gene

Publications for GABBR2 Gene

  1. Heteromeric assembly of GABA(B)R1 and GABA(B)R2 receptor subunits inhibits Ca(2+) current in sympathetic neurons. (PMID: 10751439) Filippov A.K. … Moss S.J. (J. Neurosci. 2000) 23 25 26 67
  2. Molecular identification of the human GABABR2: cell surface expression and coupling to adenylyl cyclase in the absence of GABABR1. (PMID: 10328880) Martin S.C. … Farb D.H. (Mol. Cell. Neurosci. 1999) 23 25 26 67
  3. Expression of GABA(B) receptors is altered in brains of subjects with autism. (PMID: 19002745) Fatemi S.H. … Thuras P.D. (Cerebellum 2009) 23 67
  4. Association and interaction analyses of GABBR1 and GABBR2 with nicotine dependence in European- and African-American populations. (PMID: 19763258) Li M.D. … Payne T.J. (PLoS ONE 2009) 23 67
  5. GABAB receptors as drug targets to treat gastroesophageal reflux disease. (PMID: 19303900) Lehmann A. (Pharmacol. Ther. 2009) 25 26

Products for GABBR2 Gene

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