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Aliases for GABBR2 Gene

Aliases for GABBR2 Gene

  • Gamma-Aminobutyric Acid Type B Receptor Subunit 2 2 3 5
  • Gamma-Aminobutyric Acid (GABA) B Receptor, 2 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
  • G Protein-Coupled Receptor 51 2
  • 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 Type B Receptor Subunit 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 GABAergic synapse and Signaling by GPCR. 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 GABBR1.

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 GABAA-rho receptors. They exist as heterodimers of GABAB1 and GABAB2 subunits, with both required for function.

Gene Wiki entry for GABBR2 Gene

Additional gene information for GABBR2 Gene

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

Genomics for GABBR2 Gene

Regulatory Elements for GABBR2 Gene

Enhancers for GABBR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H098333 1.1 ENCODE dbSUPER 10.5 +375.0 375004 1 BCOR HDAC1 HDGF TBL1XR1 ETV1 JUN ZMYM3 FOSL1 CTBP1 NCOR1 GABBR2 TBC1D2 GC09M098492
GH09H098686 0.7 ENCODE 12.2 +21.9 21912 1 SMARCE1 ESRRA ZNF687 GATAD2B DPF2 ZNF592 FOXA1 SREBF1 ZNF217 CTBP1 GABBR2 SEPT7P7
GH09H098373 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +334.1 334066 3 HDGF PKNOX1 ATF1 ARNT TCF12 GATA2 FOS NCOA1 REST ZNF592 GABBR2 ANKS6 TBC1D2 GC09M098492
GH09H098766 0.7 ENCODE dbSUPER 11 -57.5 -57537 0 HLF CEBPB ANKS6 GABBR2
GH09H098606 0.6 ENCODE 11.2 +100.2 100150 4 PKNOX1 RNF2 JUN CREB1 FOS ZNF24 MAFK GABBR2 ANKS6 SEPT7P7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABBR2 on UCSC Golden Path with GeneCards custom track

Promoters for GABBR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000238683 197 401 MXI1 CTBP1 POLR2A ZBTB26 EZH2

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

Genes around GABBR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABBR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GABBR2 Gene

  • Glycosylation at isoforms=90, isoforms=298, posLast=389389, posLast=404404, and isoforms=453
  • Modification sites at PhosphoSitePlus

Other Protein References for GABBR2 Gene

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for GABBR2 Gene

Gene Ontology (GO) - Molecular Function for GABBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004965 contributes_to G-protein coupled GABA receptor activity IEA,IDA 9872316
GO:0005515 protein binding IPI 16724110
GO:0046982 protein heterodimerization activity IPI 15304491
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

  • Taconic Biosciences Mouse Models for GABBR2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GABBR2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABBR2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
golgi apparatus 1

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,TAS 9872316
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GABBR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABBR2 Gene

Pathways & Interactions for GABBR2 Gene

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

Gene Ontology (GO) - Biological Process for GABBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS 9872316
GO:0007194 negative regulation of adenylate cyclase activity TAS 10328880
GO:0007214 gamma-aminobutyric acid signaling pathway IDA 9872316
GO:0007268 chemical synaptic transmission TAS 9872316
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Baclofen Approved Pharma agonist, Target 104
Gabapentin Approved, Investigational Pharma Target GABA enhancer 321
Etomidate Approved Pharma General anesthetic with GABA modulatory and GABA-mimetic actions 68
Flumazenil Approved Pharma Antagonist, Allosteric regulator Benzodiazepine antagonist 27
Niflumic Acid Approved Pharma Channel blocker Ca2+-activated Cl- channel blocker 0

(2) Additional Compounds for GABBR2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GABBR2 Gene

Compound Action Cas Number
(R)-Baclofen Selective GABAB agonist. Active enantiomer of (RS)-Baclofen (Cat. No. 0417) 69308-37-8
CGP 35348 Brain penetrant, selective GABAB antagonist 123690-79-9
CGP 52432 Potent, selective GABAB antagonist 139667-74-6
CGP 54626 hydrochloride Potent, selective GABAB antagonist 149184-21-4
CGP 55845 hydrochloride Potent, selective GABAB antagonist 149184-22-5

(14) ApexBio Compounds for GABBR2 Gene

Compound Action Cas Number
(R)-baclofen 69308-37-8
(R)-Baclofen hydrochloride GABAB receptor agonist 63701-55-3
Baicalin 21967-41-9
CGP 13501 Positive modulator of GABAB receptors,allosteric 56189-68-5
CGP 35348 Selective GABAB antagonist, brain penetrant 123690-79-9
CGP 36216 hydrochloride Selective GABAB antagonist 123691-29-2
CGP 55845 hydrochloride GABAB receptor antagonist 149184-22-5
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Flumazenil Benzodiazepine antagonist 78755-81-4
Gabapentin GABA enhancer 60142-96-3
Ginkgolide A 15291-75-5
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
Rufinamide 106308-44-5
genes like me logo Genes that share compounds with GABBR2: view

Drug Products

Transcripts for GABBR2 Gene

Unigene Clusters for GABBR2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GABBR2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GABBR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABBR2 Gene:

GABBR2

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.

Evidence on tissue expression from TISSUES for GABBR2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with GABBR2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GABBR2 Gene

Orthologs for GABBR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABBR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABBR2 33 34
  • 99.11 (n)
oppossum
(Monodelphis domestica)
Mammalia GABBR2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABBR2 33 34
  • 94.39 (n)
cow
(Bos Taurus)
Mammalia GABBR2 33 34
  • 93.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GABBR2 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabbr2 33
  • 89.73 (n)
mouse
(Mus musculus)
Mammalia Gabbr2 33 16 34
  • 89.54 (n)
chicken
(Gallus gallus)
Aves GABBR2 33 34
  • 79.46 (n)
lizard
(Anolis carolinensis)
Reptilia GABBR2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabbr2 33
  • 76.02 (n)
zebrafish
(Danio rerio)
Actinopterygii gabbr2 33 34
  • 75.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGBB2 33
  • 52.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta GABA-B-R2 33 34
  • 51.57 (n)
worm
(Caenorhabditis elegans)
Secernentea gbb-2 33 34
  • 47.74 (n)
Species where no ortholog for GABBR2 was found in the sources mined by GeneCards:
  • 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
rs2184026 other 98,542,066(+) GACAA(C/G/T)GCTTT intron-variant
rs2491397 other 98,442,880(+) gtctt(C/T)aaatc intron-variant
rs3750344 other 98,578,034(-) GATGC(A/G)ATAAA reference, synonymous-codon
rs1000004572 -- 98,298,272(+) GTAGA(A/C)CCACC intron-variant
rs1000014648 -- 98,369,411(+) GGGTG(A/G)GGGGC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1229n67 CNV loss 20364138
dgv12805n54 CNV loss 21841781
dgv12806n54 CNV loss 21841781
dgv12807n54 CNV gain+loss 21841781
dgv12808n54 CNV loss 21841781
dgv221n73 CNV deletion 24416366
dgv4103n106 CNV deletion 24896259
dgv4104n106 CNV deletion 24896259
dgv4105n106 CNV deletion 24896259
dgv4106n106 CNV deletion 24896259
esv1732633 CNV deletion 17803354
esv21712 CNV gain 19812545
esv2173122 CNV deletion 18987734
esv2328336 CNV deletion 18987734
esv2476007 CNV deletion 19546169
esv2660923 CNV deletion 23128226
esv2661422 CNV deletion 23128226
esv2665472 CNV deletion 23128226
esv2668692 CNV deletion 23128226
esv2738822 CNV deletion 23290073
esv2738823 CNV deletion 23290073
esv2738824 CNV deletion 23290073
esv2738825 CNV deletion 23290073
esv2738826 CNV deletion 23290073
esv3368078 CNV insertion 20981092
esv3392909 CNV duplication 20981092
esv3545183 CNV deletion 23714750
esv3545184 CNV deletion 23714750
esv3545186 CNV deletion 23714750
esv3545189 CNV deletion 23714750
esv3621201 CNV gain 21293372
esv3621210 CNV loss 21293372
esv3621211 CNV loss 21293372
esv3621212 CNV gain 21293372
esv3621213 CNV loss 21293372
esv3621214 CNV gain 21293372
esv4244 CNV loss 18987735
esv5443 CNV loss 19470904
esv6610 CNV loss 19470904
esv6836 CNV loss 19470904
esv990637 CNV gain 20482838
esv996617 CNV gain 20482838
nsv1075259 CNV deletion 25765185
nsv1077168 CNV deletion 25765185
nsv1110984 OTHER inversion 24896259
nsv1111839 CNV deletion 24896259
nsv1121697 CNV deletion 24896259
nsv1125273 CNV insertion 24896259
nsv1125973 CNV tandem duplication 24896259
nsv1126132 CNV deletion 24896259
nsv1137486 CNV deletion 24896259
nsv1153381 CNV insertion 26484159
nsv415863 CNV deletion 16902084
nsv415967 CNV deletion 16902084
nsv466440 CNV loss 19166990
nsv466441 CNV loss 19166990
nsv477042 CNV novel sequence insertion 20440878
nsv477164 CNV novel sequence insertion 20440878
nsv499735 CNV loss 21111241
nsv511424 CNV gain 21212237
nsv512109 CNV loss 21212237
nsv515117 CNV loss 21397061
nsv519818 CNV gain 19592680
nsv522461 CNV loss 19592680
nsv524087 CNV loss 19592680
nsv614936 CNV gain 21841781
nsv614949 CNV loss 21841781
nsv614950 CNV loss 21841781
nsv614951 CNV loss 21841781
nsv614952 CNV loss 21841781
nsv6629 CNV insertion 18451855
nsv6630 CNV deletion 18451855
nsv6633 CNV deletion 18451855
nsv819653 CNV gain 19587683
nsv821298 CNV deletion 20802225
nsv825007 CNV gain 20364138
nsv831663 CNV loss 17160897
nsv831664 CNV gain+loss 17160897
nsv831665 CNV gain 17160897
nsv950917 CNV deletion 24416366
nsv957718 CNV deletion 24416366
nsv982328 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
GABBR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABBR2

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

Disorders for GABBR2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GABBR2 Gene - From: HGMD, 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
patent ductus arteriosus
  • ductus arteriosus, patent
cleft lip/palate
  • alveolar cleft lip and palate
- elite association - COSMIC cancer census association via MalaCards

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. Molecular identification of the human GABABR2: cell surface expression and coupling to adenylyl cyclase in the absence of GABABR1. (PMID: 10328880) Martin SC … Farb DH (Molecular and cellular neurosciences 1999) 3 4 22 25 60
  2. Association and interaction analyses of GABBR1 and GABBR2 with nicotine dependence in European- and African-American populations. (PMID: 19763258) Li MD … Payne TJ (PloS one 2009) 3 22 45 60
  3. Distribution of the GABA(B) receptor subunit gb2 in rat CNS. (PMID: 10727622) Clark JA … Bonner TI (Brain research 2000) 3 4 22 60
  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. (PMID: 10087195) Ng GY … Liu Q (Genomics 1999) 2 3 4 60
  5. Structural mechanism of ligand activation in human GABA(B) receptor. (PMID: 24305054) Geng Y … Fan QR (Nature 2013) 3 4 60

Products for GABBR2 Gene

Sources for GABBR2 Gene

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