Human Gene GABRB3 (ENST00000311550.10_7) from GENCODE V47lift37
  Description: gamma-aminobutyric acid type A receptor subunit beta3, transcript variant 1 (from RefSeq NM_000814.6)
Gencode Transcript: ENST00000311550.10_7
Gencode Gene: ENSG00000166206.16_15
Transcript (Including UTRs)
   Position: hg19 chr15:26,788,699-27,018,213 Size: 229,515 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr15:26,792,940-27,018,109 Size: 225,170 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:26,788,699-27,018,213)mRNA (may differ from genome)Protein (473 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GBRB3_HUMAN
DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit beta-3; AltName: Full=GABA(A) receptor subunit beta-3; Flags: Precursor;
FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
SUBUNIT: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
DISEASE: Note=Defects in GABRB3 are associated with chronic insomnia, a condition of inability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.
DISEASE: Defects in GABRB3 are the cause of childhood absence epilepsy type 5 (ECA5) [MIM:612269]. ECA5 is a subtype of idiopathic generalized epilepsy (IGE) 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. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood.
SIMILARITY: 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.
WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt056.shtml";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GABRB3
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 43* (1231), epilepsy, childhood absence 5* (1004), childhood absence epilepsy* (273), lennox-gastaut syndrome* (183), angelman syndrome (29), prader-willi syndrome (18), epilepsy (16), autistic disorder (13), childhood disintegrative disease (11), childhood electroclinical syndrome (9), asperger syndrome (9), idiopathic generalized epilepsy (8), cleft palate, isolated (8), pervasive developmental disorder (7), diaphragmatic eventration (6), chromosomal disease (5), adolescence-adult electroclinical syndrome (5), autism spectrum disorder (3), alcohol dependence (2), psychotic disorder (2), epilepsy, generalized, with febrile seizures plus, type 5 (1), epileptic encephalopathy, early infantile, 6 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.23 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 139.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.60104-0.602 Picture PostScript Text
3' UTR -1071.104241-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006028 - GABAA_rcpt
IPR002289 - GABAAb_rcpt
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

SCOP Domains:
63712 - Nicotinic receptor ligand binding domain-like
51905 - FAD/NAD(P)-binding domain
90112 - Neurotransmitter-gated ion-channel transmembrane pore

ModBase Predicted Comparative 3D Structure on P28472
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0004890 GABA-A receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
GO:0022851 GABA-gated chloride ion channel activity
GO:0042802 identical protein binding

Biological Process:
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007165 signal transduction
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007605 sensory perception of sound
GO:0034220 ion transmembrane transport
GO:0043523 regulation of neuron apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0048666 neuron development
GO:0060021 palate development
GO:0060080 inhibitory postsynaptic potential
GO:0060119 inner ear receptor cell development
GO:0060384 innervation
GO:0071420 cellular response to histamine
GO:0090102 cochlea development
GO:1901215 negative regulation of neuron death
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0034707 chloride channel complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1902711 GABA-A receptor complex


-  Descriptions from all associated GenBank mRNAs
  CR749803 - Homo sapiens mRNA; cDNA DKFZp781L0846 (from clone DKFZp781L0846).
BC010641 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3, mRNA (cDNA clone MGC:9051 IMAGE:3871111), complete cds.
AK295167 - Homo sapiens cDNA FLJ53990 complete cds, highly similar to Gamma-aminobutyric-acid receptor beta-3 subunit precursor.
AK302822 - Homo sapiens cDNA FLJ52810 complete cds, highly similar to Gamma-aminobutyric-acid receptor beta-3 subunit precursor.
M82919 - Human gamma amino butyric acid (GABAA) receptor beta-3 subunit mRNA, complete cds.
AK315311 - Homo sapiens cDNA, FLJ96343, highly similar to Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 2, mRNA.
DQ891086 - Synthetic construct clone IMAGE:100003716; FLH169210.01X; RZPDo839H0894D gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3) gene, encodes complete protein.
EU176555 - Synthetic construct Homo sapiens clone IMAGE:100011371; FLH169209.01L; RZPDo839C10253D gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3) gene, encodes complete protein.
AB529097 - Synthetic construct DNA, clone: pF1KB4334, Homo sapiens GABRB3 gene for gamma-aminobutyric acid (GABA) A receptor, beta 3, without stop codon, in Flexi system.
KJ534842 - Homo sapiens clone GABRB3_iso-A_adult-A02 gamma-aminobutyric acid A receptor beta 3 isoform A (GABRB3) mRNA, partial cds, alternatively spliced.
BC038837 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3, mRNA (cDNA clone IMAGE:5169477), with apparent retained intron.
AK056018 - Homo sapiens cDNA FLJ31456 fis, clone NT2NE2001176.
AK095011 - Homo sapiens cDNA FLJ37692 fis, clone BRHIP2014747.
JD322398 - Sequence 303422 from Patent EP1572962.
JD109360 - Sequence 90384 from Patent EP1572962.
JD236346 - Sequence 217370 from Patent EP1572962.
JD313371 - Sequence 294395 from Patent EP1572962.
JD096913 - Sequence 77937 from Patent EP1572962.
JD316703 - Sequence 297727 from Patent EP1572962.
JD050460 - Sequence 31484 from Patent EP1572962.
JD050245 - Sequence 31269 from Patent EP1572962.
JD097235 - Sequence 78259 from Patent EP1572962.
JD323210 - Sequence 304234 from Patent EP1572962.
JD211257 - Sequence 192281 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P28472 (Reactome details) participates in the following event(s):

R-HSA-8856398 NPTN binds GABA A receptors
R-HSA-975340 GABR heteropentamers:GABA transport Cl- from extracellular region to cytosol
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-977441 GABA A receptor activation
R-HSA-112316 Neuronal System
R-HSA-977443 GABA receptor activation

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z2W1, B7Z825, ENST00000311550.1, ENST00000311550.2, ENST00000311550.3, ENST00000311550.4, ENST00000311550.5, ENST00000311550.6, ENST00000311550.7, ENST00000311550.8, ENST00000311550.9, F5H3D2, GBRB3_HUMAN, H7BYV8, NM_000814, P28472, Q14352, Q96FM5, uc317pai.1, uc317pai.2
UCSC ID: ENST00000311550.10_7
RefSeq Accession: NM_000814.6
Protein: P28472 (aka GBRB3_HUMAN or GAB3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.