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 hete... See more...

Aliases for GABBR2 Gene

Aliases for GABBR2 Gene

  • Gamma-Aminobutyric Acid Type B Receptor Subunit 2 2 3 4 5
  • GABABR2 2 3 4
  • GPRC3B 2 3 4
  • HG20 2 3 4
  • 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
  • GPR51 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
  • EIEE59 3
  • NDPLHS 3
  • GABBR2 5

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 Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills and Epileptic Encephalopathy, Early Infantile, 59. Among its related pathways are Neuroscience and Inwardly rectifying K+ channels. Gene Ontology (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 Summary for GABBR2 Gene

  • Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:9872316, PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). 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 (PubMed:10075644, PubMed:10773016, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644, PubMed:9872744, PubMed:10906333, PubMed:10773016). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:9872744, PubMed:22660477). 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 (PubMed:9872316, PubMed:10075644, PubMed:9872744, PubMed:22660477). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable).

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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABBR2 Gene

Genomics for GABBR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABBR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J098707 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 600.7 +0.8 834 3 CTCF ZBTB33 PRDM10 PHF21A POLR2A PATZ1 REST EZH2 ZNF600 MGA GABBR2 RF00017-7766 ENSG00000267026 TBC1D2
GH09J098331 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 +375.5 375534 4 LEF1 IKZF1 JUND PKNOX1 MTA1 BRD9 ZNF24 DPF2 HDAC1 SOX6 GABBR2 RF00994-1147 piR-41245-295 TBC1D2
GH09J098686 Enhancer 0.8 Ensembl ENCODE 12.2 +21.6 21555 1.9 CTBP1 ESRRA ZNF592 ZBTB17 ZNF217 GATAD2B CUX1 NR2F2 GATA3 DPF2 GABBR2 RF00017-7766 ENSG00000267026 TBC1D2
GH09J098606 Enhancer 0.7 Ensembl ENCODE 11.2 +99.8 99757 4.8 RNF2 CREB1 PKNOX1 ZNF24 CEBPB MAFF FOS MAFK ZFP91 JUN GABBR2 ANKS6 SEPTIN7P7 RF00017-7767 TBC1D2
GH09J098766 Enhancer 0.7 Ensembl ENCODE dbSUPER 11 -58.0 -57966 1.8 CEBPB HLF ANKS6 GABBR2 piR-61945-511 ENSG00000267026
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABBR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABBR2

Top Transcription factor binding sites by QIAGEN in the GABBR2 gene promoter:
  • C/EBPalpha
  • CUTL1
  • Hand1
  • ITF-2
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1beta

Genomic Locations for GABBR2 Gene

Genomic Locations for GABBR2 Gene
chr9:98,288,104-98,708,935
(GRCh38/hg38)
Size:
420,832 bases
Orientation:
Minus strand
chr9:101,050,364-101,471,479
(GRCh37/hg19)
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 (PubMed:9872316, PubMed:9872744, PubMed:10906333, PubMed:10773016, PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054). Homodimers may form, but are inactive (PubMed:15617512). Interacts (via C-terminus) with ATF4 (via leucine zipper domain) (By similarity).
    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 Asn90, Asn298, Asn389, Asn404, and Asn453
  • Modification sites at PhosphoSitePlus

Other Protein References for GABBR2 Gene

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 intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for GABBR2 Gene

InterPro:
Blocks:
  • Extracellular ligand-binding receptor
  • Metabotropic gamma-aminobutyric acid type B receptor signature
  • Metabotropic gamma-aminobutyric acid type B2 receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABBR2 Gene

GenScript: Design optimal peptide antigens:
  • HG20 (GABR2_HUMAN)
  • HRIHFB2099 protein (O94794_HUMAN)

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 (PubMed:9872316, PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054). Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins (PubMed:18165688). 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 (PubMed:10075644, PubMed:10773016, PubMed:24305054). Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis (PubMed:10075644, PubMed:9872744, PubMed:10906333, PubMed:10773016). Plays a critical role in the fine-tuning of inhibitory synaptic transmission (PubMed:9872744, PubMed:22660477). 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 (PubMed:9872316, PubMed:10075644, PubMed:9872744, PubMed:22660477). Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable).

Phenotypes From GWAS Catalog for GABBR2 Gene

Gene Ontology (GO) - Molecular Function for GABBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IBA 21873635
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

Human Phenotype Ontology for GABBR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABBR2 Gene

MGI Knock Outs for GABBR2:

Animal Model Products

  • Taconic Biosciences Mouse Models for GABBR2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABBR2

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. {ECO:0000269 PubMed:15617512}.

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 2
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 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 TAS,IDA 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 --
GO:0007194 negative regulation of adenylate cyclase activity TAS 10328880
GO:0007214 gamma-aminobutyric acid signaling pathway IBA,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 Target, agonist 114
gamma-Aminobutyric acid Approved, Investigational Pharma Target 25
Etomidate Approved Pharma General anesthetic with GABA modulatory and GABA-mimetic actions 80
Flumazenil Approved Pharma Allosteric regulator, Antagonist, Partial agonist Benzodiazepine antagonist 35
Gabapentin Approved, Investigational Pharma GABA enhancer 407

(3) Additional Compounds for GABBR2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(RS)-Baclofen
1134-47-0

(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
(RS)-Baclofen Selective GABAB agonist 1134-47-0
RuBi GABA trimethylphosphine Caged GABA; inhibits neural activity
RuBi-GABA Caged GABA; excitable by visible wavelength 1028141-88-9
SKF 97541 Extremely potent GABAB agonist 127729-35-5

(13) ApexBio Compounds for GABBR2 Gene

Compound Action Cas Number
(R)-baclofen 69308-37-8
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

mRNA/cDNA for GABBR2 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABBR2

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

No ASD Table

Relevant External Links for GABBR2 Gene

GeneLoc Exon Structure for
GABBR2

Expression for GABBR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for GABBR2 Gene



Protein tissue co-expression partners for GABBR2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 (PubMed:10087195, PubMed:10328880, PubMed:10727622, PubMed:9872744). Weakly expressed in heart, testis and skeletal muscle (PubMed:10087195, PubMed:10727622).

Evidence on tissue expression from TISSUES for GABBR2 Gene

  • Nervous system(4.5)
  • Skin(2.4)
  • Lung(2)
genes like me logo Genes that share expression patterns with GABBR2: view

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 30 31
  • 99.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABBR2 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GABBR2 30 31
  • 94.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABBR2 30 31
  • 93.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GABBR2 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabbr2 30
  • 89.73 (n)
Mouse
(Mus musculus)
Mammalia Gabbr2 30 17 31
  • 89.54 (n)
OneToOne
Chicken
(Gallus gallus)
Aves GABBR2 30 31
  • 79.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABBR2 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabbr2 30
  • 76.02 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabbr2 30 31
  • 75.51 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGBB2 30
  • 52.83 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta GABA-B-R2 30 31
  • 51.57 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea gbb-2 30 31
  • 47.74 (n)
OneToOne
Species where no ortholog for GABBR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GABBR2: view image

Paralogs for GABBR2 Gene

Paralogs for GABBR2 Gene

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

  • GABR2_HUMAN
  • H9NIL8_HUMAN
genes like me logo Genes that share paralogs with GABBR2: view

Variants for GABBR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABBR2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
639994 Uncertain Significance: Epileptic encephalopathy 98,708,687(-) TGGCGGCGGC/T INFRAME_DELETION
643161 Benign: Epileptic encephalopathy 98,293,870(-) C/T MISSENSE_VARIANT
646690 Uncertain Significance: Epileptic encephalopathy 98,394,195(-) T/C MISSENSE_VARIANT
649858 Uncertain Significance: Epileptic encephalopathy 98,362,807(-) C/T MISSENSE_VARIANT
657651 Uncertain Significance: Epileptic encephalopathy 98,311,174(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GABBR2 Gene

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)

Additional Variant Information 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

(14) MalaCards diseases for GABBR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GABR2_HUMAN
  • Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903]: An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability. {ECO:0000269 PubMed:26740508, ECO:0000269 PubMed:28856709, ECO:0000269 PubMed:29369404}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 59 (EIEE59) [MIM:617904]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy. {ECO:0000269 PubMed:28856709, ECO:0000269 PubMed:29100083, ECO:0000269 PubMed:29369404}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GABBR2

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

No data available for 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 23 26
  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 23 41
  3. Distribution of the GABA(B) receptor subunit gb2 in rat CNS. (PMID: 10727622) Clark JA … Bonner TI (Brain research 2000) 3 4 23
  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
  5. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. (PMID: 28856709) Yoo Y … Choi M (Annals of neurology 2017) 3 4

Products for GABBR2 Gene

Sources for GABBR2 Gene