The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gen... See more...

Aliases for GABRB2 Gene

Aliases for GABRB2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2 2 3 5
  • Gamma-Aminobutyric Acid Receptor Subunit Beta-2 3 4
  • GABA(A) Receptor Subunit Beta-2 3 4
  • Gamma-Aminobutyric Acid Type A Receptor Beta2 Subunit 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 2 2
  • Gamma-Aminobutyric Acid A Receptor Beta 2 3
  • GABA(A) Receptor, Beta 2 2
  • GABRB2 5
  • ICEE2 3

External Ids for GABRB2 Gene

Previous GeneCards Identifiers for GABRB2 Gene

  • GC05M160838
  • GC05M161228
  • GC05M160656
  • GC05M160701
  • GC05M160653
  • GC05M160648
  • GC05M160715
  • GC05M155807

Summaries for GABRB2 Gene

Entrez Gene Summary for GABRB2 Gene

  • The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRB2 Gene

GABRB2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2) is a Protein Coding gene. Diseases associated with GABRB2 include Epileptic Encephalopathy, Infantile Or Early Childhood, 2 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Nicotine addiction and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB1.

UniProtKB/Swiss-Prot Summary for GABRB2 Gene

  • Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:8264558, PubMed:19763268, PubMed:27789573, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha2/beta2/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).

Tocris Summary for GABRB2 Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRB2 Gene

Additional gene information for GABRB2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRB2 Gene

Genomics for GABRB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRB2 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
GH05J161546 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.4 1446 2.8 ZNF692 LARP7 ZSCAN4 POLR2A EZH2 NRF1 RAD21 TCF7 TCF7L2 RUNX3 GABRA6 GABRB2 lnc-GABRB2-4
GH05J161697 Enhancer 0.5 FANTOM5 Ensembl 7.1 -148.4 -148405 0.7 SIN3A GABRA6 GABRB2 GABRA1 GABRG2 hsa-miR-5095-410 GLRXP3
GH05J160902 Enhancer 0.5 Ensembl ENCODE dbSUPER 4.3 +644.3 644254 5 ATP10B MIR3142HG GABRB2 piR-61240-236 PTTG1
GH05J161107 Enhancer 0.2 Ensembl 6.4 +440.8 440843 0.8 HSALNG0046268 GABRB2 piR-38351-386 ATP10B GABRA6
GH05J161432 Enhancer 0.3 Ensembl 0.1 +116.9 116943 0.2 TEAD4 LOC105377694 RF00994-875 GABRA6 GABRB2 ATP10B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRB2

Top Transcription factor binding sites by QIAGEN in the GABRB2 gene promoter:
  • aMEF-2
  • Chx10
  • CREB
  • deltaCREB
  • FOXO1
  • HEN1
  • MEF-2A
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for GABRB2 Gene

Genomic Locations for GABRB2 Gene
chr5:161,288,429-161,549,044
(GRCh38/hg38)
Size:
260,616 bases
Orientation:
Minus strand
chr5:160,715,436-160,976,050
(GRCh37/hg19)
Size:
260,615 bases
Orientation:
Minus strand

Genomic View for GABRB2 Gene

Genes around GABRB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRB2 Gene

Proteins for GABRB2 Gene

  • Protein details for GABRB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47870-GBRB2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit beta-2
    Protein Accession:
    P47870
    Secondary Accessions:
    • A8K115
    • A8K1A0
    • D1LYT0
    • D1LYT1
    • Q16323
    • Q4FZB2

    Protein attributes for GABRB2 Gene

    Size:
    512 amino acids
    Molecular mass:
    59150 Da
    Quaternary structure:
    • Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:8264558, PubMed:29950725). Interacts with UBQLN1 (By similarity). Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity). May interact with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GABRB2 Gene

    Alternative splice isoforms for GABRB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRB2 Gene

Post-translational modifications for GABRB2 Gene

No data available for DME Specific Peptides for GABRB2 Gene

Domains & Families for GABRB2 Gene

Gene Families for GABRB2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for GABRB2 Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A receptor beta subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABRB2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53759, highly similar to Gamma-aminobutyric-acid receptor subunit beta-2 (B7Z279_HUMAN)
  • Gamma-aminobutyric acid A receptor beta 2 (D1M715_HUMAN)
  • Gamma-aminobutyric acid A receptor beta 2 (D1M744_HUMAN)
  • GABA(A) receptor subunit beta-2 (GBRB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P47870

UniProtKB/Swiss-Prot:

GBRB2_HUMAN :
  • The extracellular domain contributes to synaptic contact formation.
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily.
Domain:
  • The extracellular domain contributes to synaptic contact formation.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily.
genes like me logo Genes that share domains with GABRB2: view

Function for GABRB2 Gene

Molecular function for GABRB2 Gene

UniProtKB/Swiss-Prot Function:
Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:8264558, PubMed:19763268, PubMed:27789573, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha2/beta2/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by benzodiazepines (PubMed:29950725). Allosterically activated by the anesthetic etomidate (By similarity). Inhibited by the antagonist bicuculline (PubMed:29950725).
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 2,subunit,component of a pentameric receptor mediating inhibitory neurotransmission

Phenotypes From GWAS Catalog for GABRB2 Gene

Gene Ontology (GO) - Molecular Function for GABRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 GABA-A receptor activity ISS --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005237 inhibitory extracellular ligand-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with GABRB2: view
genes like me logo Genes that share phenotypes with GABRB2: view

Human Phenotype Ontology for GABRB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRB2 Gene

MGI Knock Outs for GABRB2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRB2 Gene

Localization for GABRB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRB2 Gene

Cell junction, synapse, postsynaptic cell membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Cytoplasmic vesicle 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 GABRB2 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GABRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GABRB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRB2 Gene

Pathways & Interactions for GABRB2 Gene

genes like me logo Genes that share pathways with GABRB2: view

Pathways by source for GABRB2 Gene

1 PharmGKB pathway for GABRB2 Gene
2 GeneGo (Thomson Reuters) pathways for GABRB2 Gene
  • Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
  • Signal transduction_PKA signaling
1 R&D Systems pathway for GABRB2 Gene
1 Tocris pathway for GABRB2 Gene
2 Qiagen pathways for GABRB2 Gene
  • Akt Signaling
  • Sperm Motility

Gene Ontology (GO) - Biological Process for GABRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway TAS,IMP 27789573
GO:0007268 chemical synaptic transmission TAS,IBA 21873635
genes like me logo Genes that share ontologies with GABRB2: view

No data available for SIGNOR curated interactions for GABRB2 Gene

Drugs & Compounds for GABRB2 Gene

(91) Drugs for GABRB2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, binder 3
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, agonist 5
Clobazam Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 25
Clonazepam Approved, Illicit Pharma Target, positive allosteric modulator, agonist 41
Clorazepate Approved, Illicit Pharma Target, positive allosteric modulator, agonist 0

(3) Additional Compounds for GABRB2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Hydroxypropofol
Alpha-hydroxyalprazolam
37115-43-8
gaba
56-12-2

(4) Tocris Compounds for GABRB2 Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5

(1) ApexBio Compounds for GABRB2 Gene

Compound Action Cas Number
Acamprosate calcium GABA receptor agonist and modulator of glutamatergic systems 77337-73-6
genes like me logo Genes that share compounds with GABRB2: view

Drug Products

Transcripts for GABRB2 Gene

mRNA/cDNA for GABRB2 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 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 GABRB2

Alternative Splicing Database (ASD) splice patterns (SP) for GABRB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - -
SP2: -
SP3:
SP4: - -
SP5: -

Relevant External Links for GABRB2 Gene

GeneLoc Exon Structure for
GABRB2

Expression for GABRB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRB2 Gene

mRNA differential expression in normal tissues according to GTEx for GABRB2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.6), Brain - Cerebellar Hemisphere (x8.5), Brain - Anterior cingulate cortex (BA24) (x6.4), Brain - Cerebellum (x6.4), and Brain - Cortex (x5.4).

Protein differential expression in normal tissues from HIPED for GABRB2 Gene

This gene is overexpressed in Monocytes (35.5) and Frontal cortex (27.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GABRB2 Gene



Protein tissue co-expression partners for GABRB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRB2

SOURCE GeneReport for Unigene cluster for GABRB2 Gene:

Hs.303527

mRNA Expression by UniProt/SwissProt for GABRB2 Gene:

P47870-GBRB2_HUMAN
Tissue specificity: Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression.

Evidence on tissue expression from TISSUES for GABRB2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with GABRB2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRB2 Gene

Orthologs for GABRB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRB2 30 31
  • 99.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRB2 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRB2 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRB2 30 31
  • 94.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRB2 30 31
  • 92.19 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabrb2 30 17 31
  • 91.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrb2 30
  • 91.21 (n)
Chicken
(Gallus gallus)
Aves GABARB 31
  • 98 (a)
OneToOne
GABRB2 30
  • 84.11 (n)
Lizard
(Anolis carolinensis)
Reptilia GABRB2 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabrb2 30
  • 79.32 (n)
Zebrafish
(Danio rerio)
Actinopterygii GABRB2 (1 of 2) 31
  • 87 (a)
OneToMany
gabrb2 30 31
  • 72.35 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Lcch3 31 32
  • 45 (a)
OneToMany
Rdl 32
  • 45 (a)
ort 32
  • 34 (a)
CG11340 32
  • 29 (a)
CG6927 32
  • 29 (a)
CG7589 32
  • 25 (a)
Worm
(Caenorhabditis elegans)
Secernentea F11H8.2 32
  • 43 (a)
glc-1 32
  • 41 (a)
gab-1 31 32
  • 38 (a)
OneToMany
gbr-5 32
  • 38 (a)
C39B10.2 32
  • 34 (a)
T24D8.1 32
  • 34 (a)
W10G11.16 32
  • 33 (a)
Y46G5A.26 32
  • 33 (a)
glc-4 32
  • 32 (a)
gbr-4 32
  • 31 (a)
T15B7.16 32
  • 30 (a)
gbr-6 32
  • 30 (a)
C53D6.3 32
  • 29 (a)
K10D6.1 32
  • 29 (a)
Y71D11A.5 32
  • 28 (a)
F58G6.4 32
  • 28 (a)
T27E9.9 32
  • 28 (a)
Y73F8A.2 32
  • 26 (a)
F55D10.5 32
  • 25 (a)
T20B12.9 32
  • 25 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for GABRB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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 GABRB2 Gene

ENSEMBL:
Gene Tree for GABRB2 (if available)
TreeFam:
Gene Tree for GABRB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRB2: view image

Paralogs for GABRB2 Gene

(24) SIMAP similar genes for GABRB2 Gene using alignment to 5 proteins:

  • GBRB2_HUMAN
  • B7Z279_HUMAN
  • D1M715_HUMAN
  • D1M744_HUMAN
  • E7EV50_HUMAN
genes like me logo Genes that share paralogs with GABRB2: view

Variants for GABRB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRB2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
643730 Uncertain Significance: Intellectual disability 161,294,239(-) C/A MISSENSE_VARIANT
645525 Uncertain Significance: Intellectual disability 161,294,334(-) C/T MISSENSE_VARIANT
647113 Uncertain Significance: Intellectual disability 161,326,388(-) A/G MISSENSE_VARIANT,INTRON_VARIANT
647339 Likely Pathogenic: Intellectual disability 161,331,065(-) T/A MISSENSE_VARIANT
648268 Uncertain Significance: Intellectual disability 161,546,620(-) GC/G FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for GABRB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABRB2 Gene

Variant ID Type Subtype PubMed ID
esv2659732 CNV deletion 23128226
esv2667994 CNV deletion 23128226
esv2730986 CNV deletion 23290073
esv2730987 CNV deletion 23290073
esv34078 CNV loss 18971310
esv3607398 CNV gain 21293372
esv3607403 CNV loss 21293372
esv3607404 CNV gain 21293372
esv7129 CNV gain 19470904
nsv507303 OTHER sequence alteration 20534489
nsv5100 CNV deletion 18451855
nsv950437 CNV duplication 24416366

Variation tolerance for GABRB2 Gene

Residual Variation Intolerance Score: 8.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRB2 Gene

Human Gene Mutation Database (HGMD)
GABRB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRB2 Gene

Disorders for GABRB2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for GABRB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRB2_HUMAN
  • Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]: 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. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years. {ECO:0000269 PubMed:25124326, ECO:0000269 PubMed:27789573, ECO:0000269 PubMed:29100083}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GABRB2

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 GABRB2: view

No data available for Genatlas for GABRB2 Gene

Publications for GABRB2 Gene

  1. Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders. (PMID: 19763268) Zhao C … Xue H (PloS one 2009) 3 4 41
  2. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PMID: 18334916) Inada T … Arinami T (Pharmacogenetics and genomics 2008) 3 23 41
  3. No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia. (PMID: 17167345) Jamra RA … Schumacher J (Psychiatric genetics 2007) 3 23 41
  4. Structure of a human synaptic GABAA receptor. (PMID: 29950725) Zhu S … Hibbs RE (Nature 2018) 3 4
  5. A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. (PMID: 27789573) Ishii A … Hirose S (Journal of medical genetics 2017) 3 4

Products for GABRB2 Gene

Sources for GABRB2 Gene