This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subu... See more...

Aliases for GABRB3 Gene

Aliases for GABRB3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Beta-3 3 4
  • Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit 3
  • Gamma-Aminobutyric Acid A Receptor Beta 3 3
  • GABA-Alpha Receptor Beta-2 Subunit 3
  • GABA(A) Receptor Subunit Beta-3 4
  • GABAA Receptor Beta-3 Subunit 3
  • GABA(A) Receptor, Beta 3 2
  • EIEE43 3
  • GABRB3 5
  • ECA5 3

External Ids for GABRB3 Gene

Previous GeneCards Identifiers for GABRB3 Gene

  • GC15M022994
  • GC15M019538
  • GC15M024209
  • GC15M024338
  • GC15M024342
  • GC15M026788
  • GC15M004917

Summaries for GABRB3 Gene

Entrez Gene Summary for GABRB3 Gene

  • This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

GeneCards Summary for GABRB3 Gene

GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3) is a Protein Coding gene. Diseases associated with GABRB3 include Epilepsy, Childhood Absence 5 and Epileptic Encephalopathy, Early Infantile, 43. 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 GABRB2.

UniProtKB/Swiss-Prot Summary for GABRB3 Gene

  • Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). 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: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/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity).

Tocris Summary for GABRB3 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 GABRB3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRB3 Gene

Genomics for GABRB3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRB3 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
GH15J026771 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 600.1 +167.1 167138 4 REST POLR2A EZH2 ZNF341 RAD21 ZBTB26 USF1 SIN3A ZNF335 GABPB1 LOC112268151 GABRB3 piR-47628-063 lnc-ATP10A-8 GABRA5 ATP10A
GH15J026628 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 17.8 +306.1 306139 10.4 RFX1 CTCF REST NRF1 CEBPB MGA SP1 UBTF CHD2 POLR2A GABRB3 RF00994-352 ENSG00000235518 GABRA5 ATP10A
GH15J026621 Enhancer 0.3 Ensembl 16.4 +317.4 317438 0.6 GLIS1 GABRB3 piR-48209-224 RF00994-352 GABRA5 ATP10A
GH15J027214 Enhancer 0.3 FANTOM5 11.8 -274.7 -274667 0.2 RFX1 piR-52615 GABRB3 piR-34982 GABRG3 OCA2
GH15J026624 Enhancer 0.2 Ensembl 18.1 +314.0 314038 2.6 GABRB3 RF00994-352 piR-48209-224 GABRA5 ATP10A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRB3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRB3

Top Transcription factor binding sites by QIAGEN in the GABRB3 gene promoter:
  • AP-4
  • NRSF form 1
  • NRSF form 2

Genomic Locations for GABRB3 Gene

Genomic Locations for GABRB3 Gene
chr15:26,543,546-26,939,539
(GRCh38/hg38)
Size:
395,994 bases
Orientation:
Minus strand
chr15:26,788,693-27,184,686
(GRCh37/hg19)
Size:
395,994 bases
Orientation:
Minus strand

Genomic View for GABRB3 Gene

Genes around GABRB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRB3 Gene

Proteins for GABRB3 Gene

  • Protein details for GABRB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28472-GBRB3_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit beta-3
    Protein Accession:
    P28472
    Secondary Accessions:
    • B7Z2W1
    • B7Z825
    • F5H3D2
    • H7BYV8
    • Q14352
    • Q96FM5

    Protein attributes for GABRB3 Gene

    Size:
    473 amino acids
    Molecular mass:
    54116 Da
    Quaternary structure:
    • Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:22243422, PubMed:18281286, PubMed:18514161, PubMed:24909990). Can form functional homopentamers (in vitro) (PubMed:22303015). Interacts with UBQLN1 (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). Interacts with LHFPL4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GABRB3 Gene

    Alternative splice isoforms for GABRB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRB3 Gene

Post-translational modifications for GABRB3 Gene

  • Glycosylation at Asn105, Asn33, and Asn174
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRB3 Gene

Domains & Families for GABRB3 Gene

Gene Families for GABRB3 Gene

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

Protein Domains for GABRB3 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 GABRB3 Gene

GenScript: Design optimal peptide antigens:
  • GABA(A) receptor subunit beta-3 (GBRB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28472

UniProtKB/Swiss-Prot:

GBRB3_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily.
genes like me logo Genes that share domains with GABRB3: view

Function for GABRB3 Gene

Molecular function for GABRB3 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:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). 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: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/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity).
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 3,subunit,component of a pentameric receptor mediating inhibitory neurotransmission putatively involved in epileptic seizures in Angelman syndrome (ANCR),unlikely to be involved in autism

Phenotypes From GWAS Catalog for GABRB3 Gene

Gene Ontology (GO) - Molecular Function for GABRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 GABA-A receptor activity TAS,IMP 22303015
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 contributes_to chloride channel activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with GABRB3: view
genes like me logo Genes that share phenotypes with GABRB3: view

Human Phenotype Ontology for GABRB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRB3 Gene

MGI Knock Outs for GABRB3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRB3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRB3 Gene

Localization for GABRB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRB3 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 GABRB3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GABRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IMP 22303015
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRB3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRB3 Gene

Pathways & Interactions for GABRB3 Gene

genes like me logo Genes that share pathways with GABRB3: view

Pathways by source for GABRB3 Gene

1 BioSystems pathway for GABRB3 Gene
2 GeneGo (Thomson Reuters) pathways for GABRB3 Gene
  • Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
  • Signal transduction_PKA signaling
1 R&D Systems pathway for GABRB3 Gene
1 Tocris pathway for GABRB3 Gene
2 Qiagen pathways for GABRB3 Gene
  • Akt Signaling
  • Sperm Motility

Gene Ontology (GO) - Biological Process for GABRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway IMP 26950270
GO:0007268 chemical synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with GABRB3: view

No data available for SIGNOR curated interactions for GABRB3 Gene

Drugs & Compounds for GABRB3 Gene

(102) Drugs for GABRB3 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 GABRB3 Gene - From: HMDB, Novoseek, and Tocris

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

(4) Tocris Compounds for GABRB3 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

(11) ApexBio Compounds for GABRB3 Gene

Compound Action Cas Number
(+)-Bicuculline GABAA receptor antagonist,competitve and classical 485-49-4
AA 29504 GABAA receptor modulator 945828-50-2
Allopregnanolone GABA-A receptor activator, selective 516-54-1
ARN-509 Androgen receptor inhibitor 956104-40-8
AWD 131-138 GABAA receptor agonist 188116-07-6
Bemegride 64-65-3
DPNI-caged-GABA activates GABAA receptor 927866-58-8
Etifoxine hydrochloride GABAA receptor potentiator 56776-32-0
Furosemide GABAA receptors antagonist 54-31-9
SB 205384 positive GABAA receptor modulator 160296-13-9
ZK 93423 hydrochloride GABAA receptor agonist 1216574-52-5
genes like me logo Genes that share compounds with GABRB3: view

Drug Products

Transcripts for GABRB3 Gene

mRNA/cDNA for GABRB3 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
26 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 GABRB3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRB3 Gene

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

Relevant External Links for GABRB3 Gene

GeneLoc Exon Structure for
GABRB3

Expression for GABRB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRB3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.0), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Nucleus accumbens (basal ganglia) (x5.1), and Brain - Cortex (x4.7).

Protein differential expression in normal tissues from HIPED for GABRB3 Gene

This gene is overexpressed in Frontal cortex (27.8), Fetal Brain (27.2), and Retina (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GABRB3 Gene



Protein tissue co-expression partners for GABRB3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRB3

SOURCE GeneReport for Unigene cluster for GABRB3 Gene:

Hs.302352

Evidence on tissue expression from TISSUES for GABRB3 Gene

  • Nervous system(4.9)
  • Eye(4.4)
  • Lung(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRB3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with GABRB3: view

No data available for mRNA Expression by UniProt/SwissProt for GABRB3 Gene

Orthologs for GABRB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRB3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRB3 30 31
  • 99.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRB3 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRB3 30 31
  • 92.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRB3 30 31
  • 92.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabrb3 30 17 31
  • 91.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrb3 30
  • 91.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRB3 31
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GABRB3 30 31
  • 82.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRB3 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabrb3 30
  • 77.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabrb3 30 31
  • 74.86 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000038 30
  • 56.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Lcch3 30 31 32
  • 54.21 (n)
OneToMany
Rdl 32
  • 47 (a)
CG8916 32
  • 39 (a)
ort 32
  • 36 (a)
CG6927 32
  • 28 (a)
CG11340 32
  • 26 (a)
CG7589 32
  • 26 (a)
Worm
(Caenorhabditis elegans)
Secernentea gab-1 30 31 32
  • 52.59 (n)
OneToMany
glc-1 32
  • 37 (a)
glc-4 32
  • 37 (a)
F11H8.2 32
  • 35 (a)
T24D8.1 32
  • 35 (a)
Y46G5A.26 32
  • 35 (a)
W10G11.16 32
  • 34 (a)
gbr-5 32
  • 33 (a)
T15B7.16 32
  • 31 (a)
gbr-4 32
  • 31 (a)
gbr-6 32
  • 30 (a)
Y71D11A.5 32
  • 29 (a)
C53D6.3 32
  • 29 (a)
T27E9.9 32
  • 28 (a)
F58G6.4 32
  • 27 (a)
F09G2.5 32
  • 26 (a)
Y73F8A.2 32
  • 26 (a)
F55D10.5 32
  • 25 (a)
T20B12.9 32
  • 24 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToMany
Species where no ortholog for GABRB3 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 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 GABRB3 Gene

ENSEMBL:
Gene Tree for GABRB3 (if available)
TreeFam:
Gene Tree for GABRB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRB3: view image

Paralogs for GABRB3 Gene

(24) SIMAP similar genes for GABRB3 Gene using alignment to 8 proteins:

  • GBRB3_HUMAN
  • F5H7N0_HUMAN
  • G3V373_HUMAN
  • G3V3U3_HUMAN
  • G3V4W7_HUMAN
  • G3V5B4_HUMAN
  • H0YJU6_HUMAN
  • L8E9G0_HUMAN
genes like me logo Genes that share paralogs with GABRB3: view

Variants for GABRB3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GABRB3 Gene

GBRB3_HUMAN-P28472
GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain sleep [MIM:137192].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRB3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
640537 Uncertain Significance: Epilepsy, childhood absence 5; Epilepsy, childhood absence 1 26,621,347(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
649834 Uncertain Significance: Epilepsy, childhood absence 5; Epilepsy, childhood absence 1 26,773,723(-) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
652737 Uncertain Significance: Epilepsy, childhood absence 5; Epilepsy, childhood absence 1 26,548,062(-) T/C MISSENSE_VARIANT
653022 Uncertain Significance: Epilepsy, childhood absence 5; Epilepsy, childhood absence 1 26,560,960(-) T/C MISSENSE_VARIANT
653036 Uncertain Significance: Epilepsy, childhood absence 5; Epilepsy, childhood absence 1 26,621,444(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for GABRB3 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABRB3 Gene

Variant ID Type Subtype PubMed ID
dgv144n21 CNV gain 19592680
dgv723e212 CNV loss 25503493
esv1400114 CNV insertion 17803354
esv2657740 CNV deletion 23128226
esv2663146 CNV deletion 23128226
esv2665879 CNV deletion 23128226
esv2669363 CNV deletion 23128226
esv28925 CNV gain 19812545
esv3326873 CNV insertion 20981092
esv3552232 CNV deletion 23714750
esv3581593 CNV loss 25503493
esv3635959 CNV loss 21293372
esv3635960 CNV loss 21293372
esv3635961 CNV loss 21293372
nsv1131087 CNV deletion 24896259
nsv1134423 CNV deletion 24896259
nsv469894 CNV loss 16826518
nsv472036 CNV novel sequence insertion 20440878
nsv568598 CNV gain 21841781
nsv568600 CNV gain 21841781
nsv827264 CNV gain 20364138
nsv957977 CNV deletion 24416366

Variation tolerance for GABRB3 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.12; 87.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRB3 Gene

Human Gene Mutation Database (HGMD)
GABRB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRB3

Disorders for GABRB3 Gene

MalaCards: The human disease database

(39) MalaCards diseases for GABRB3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, childhood absence 5
  • epilepsy, childhood absence, susceptibility to, 5
epileptic encephalopathy, early infantile, 43
  • eiee43
epilepsy, childhood absence 1
  • epilepsy, childhood absence, susceptibility to, 1
lennox-gastaut syndrome
  • lgs
childhood absence epilepsy
  • absence seizure
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRB3_HUMAN
  • Epilepsy, childhood absence 5 (ECA5) [MIM:612269]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:18514161, ECO:0000269 PubMed:22303015}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]: 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. EIEE43 inheritance is autosomal dominant. {ECO:0000269 PubMed:23934111, ECO:0000269 PubMed:25356899, ECO:0000269 PubMed:26950270, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27476654, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GABRB3

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 GABRB3: view

No data available for Genatlas for GABRB3 Gene

Publications for GABRB3 Gene

  1. Polymorphisms in SLC6A4, PAH, GABRB3, and MAOB and modification of psychotic disorder features. (PMID: 19268543) Bergen SE … Kendler KS (Schizophrenia research 2009) 3 23 41
  2. Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. (PMID: 19430570) Yoo HK … Cho SC (Yonsei medical journal 2009) 3 23 41
  3. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (PMID: 18514161) Tanaka M … Delgado-Escueta AV (American journal of human genetics 2008) 3 4 23
  4. Association study of dopamine D2, D4 receptor gene, GABAA receptor beta subunit gene, serotonin transporter gene polymorphism with children of alcoholics in Korea: a preliminary study. (PMID: 18358985) Namkoong K … Lee JY (Alcohol (Fayetteville, N.Y.) 2008) 3 23 41
  5. Association of the GABRB3 gene with nonsyndromic oral clefts. (PMID: 18452349) Inoue H … Suzuki Y (The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2008) 3 23 41

Products for GABRB3 Gene

Sources for GABRB3 Gene