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Entry version 186 (18 Sep 2019)
Sequence version 2 (23 Mar 2010)
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Protein

Gamma-aminobutyric acid receptor subunit beta-2

Gene

GABRB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity6 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Allosterically activated by benzodiazepines (PubMed:29950725). Allosterically activated by the anesthetic etomidate (By similarity). Inhibited by the antagonist bicuculline (PubMed:29950725).By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei224AgonistBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChloride channel, Ion channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1236394 Signaling by ERBB4
R-HSA-977443 GABA receptor activation

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.9.5.2 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit beta-2
Alternative name(s):
GABA(A) receptor subunit beta-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GABRB2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4082 GABRB2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600232 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P47870

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 244ExtracellularCuratedAdd BLAST219
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei245 – 266HelicalCuratedAdd BLAST22
Transmembranei270 – 292HelicalCuratedAdd BLAST23
Transmembranei304 – 326HelicalCuratedAdd BLAST23
Topological domaini327 – 489CytoplasmicCuratedAdd BLAST163
Transmembranei490 – 511HelicalCuratedAdd BLAST22

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08071279M → T in IECEE2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs606231468EnsemblClinVar.1
Natural variantiVAR_080713244Y → H in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554094149EnsemblClinVar.1
Natural variantiVAR_080714277L → S in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554094145EnsemblClinVar.1
Natural variantiVAR_080715284T → K in IECEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_080716287T → P in IECEE2; loss of localization to the cell membrane; retained intracellularly it affects the cell surface expression of the GABA receptor; decreased GABA receptor activity. 1 PublicationCorresponds to variant dbSNP:rs1554093894EnsemblClinVar.1
Natural variantiVAR_080717293R → P in IECEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_080718303K → R in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554093885EnsemblClinVar.1
Natural variantiVAR_080719304A → V in IECEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_080720316V → I in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554093884EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi389T → A: Displays reduced current rundown following repeated receptor activation. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
2561

MalaCards human disease database

More...
MalaCardsi
GABRB2
MIMi617829 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000145864

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28496

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1920

Drug and drug target database

More...
DrugBanki
DB00659 Acamprosate
DB00546 Adinazolam
DB00404 Alprazolam
DB00543 Amoxapine
DB11901 Apalutamide
DB11859 Brexanolone
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB00395 Carisoprodol
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepic acid
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB06716 Fospropofol
DB01381 Ginkgo biloba
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB00555 Lamotrigine
DB00186 Lorazepam
DB01043 Memantine
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB01595 Nitrazepam
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB09118 Stiripentol
DB00306 Talbutal
DB01956 Taurine
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GABRB2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
292495010

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25By similarityAdd BLAST25
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000045926 – 512Gamma-aminobutyric acid receptor subunit beta-2Add BLAST487

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi32N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi104N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi160 ↔ 174By similarity
Glycosylationi173N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei441PhosphotyrosineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P47870

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P47870

PeptideAtlas

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PeptideAtlasi
P47870

PRoteomics IDEntifications database

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PRIDEi
P47870

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55801 [P47870-2]
55802 [P47870-1]
55803 [P47870-3]
55804 [P47870-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P47870

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P47870

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000145864 Expressed in 133 organ(s), highest expression level in primary visual cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P47870 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P47870 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB001964
HPA067632

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108835, 4 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-2159 GABA-A receptor, alpha-1/beta-2/gamma-2
CPX-2952 GABA-A receptor, alpha-6/beta-2/delta
CPX-2953 GABA-A receptor, alpha-4/beta-2/delta

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P47870

Protein interaction database and analysis system

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IntActi
P47870, 4 interactors

Molecular INTeraction database

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MINTi
P47870

STRING: functional protein association networks

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STRINGi
9606.ENSP00000274547

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P47870

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P47870

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni119 – 121Agonist bindingBy similarity3
Regioni179 – 181Agonist bindingBy similarity3
Regioni289 – 310Allosteric effector bindingBy similarityAdd BLAST22

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The extracellular domain contributes to synaptic contact formation.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3643 Eukaryota
ENOG410XPWH LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154245

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P47870

KEGG Orthology (KO)

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KOi
K05181

Identification of Orthologs from Complete Genome Data

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OMAi
KNKMDPH

Database of Orthologous Groups

More...
OrthoDBi
480926at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P47870

TreeFam database of animal gene trees

More...
TreeFami
TF315453

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.70.170.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR002289 GABAAb_rcpt
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS

The PANTHER Classification System

More...
PANTHERi
PTHR18945 PTHR18945, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01160 GABAARBETA
PR00253 GABAARECEPTR
PR00252 NRIONCHANNEL

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00860 LIC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P47870-2) [UniParc]FASTAAdd to basket
Also known as: Long, Beta-2L

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
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MWRVRKRGYF GIWSFPLIIA AVCAQSVNDP SNMSLVKETV DRLLKGYDIR
60 70 80 90 100
LRPDFGGPPV AVGMNIDIAS IDMVSEVNMD YTLTMYFQQA WRDKRLSYNV
110 120 130 140 150
IPLNLTLDNR VADQLWVPDT YFLNDKKSFV HGVTVKNRMI RLHPDGTVLY
160 170 180 190 200
GLRITTTAAC MMDLRRYPLD EQNCTLEIES YGYTTDDIEF YWRGDDNAVT
210 220 230 240 250
GVTKIELPQF SIVDYKLITK KVVFSTGSYP RLSLSFKLKR NIGYFILQTY
260 270 280 290 300
MPSILITILS WVSFWINYDA SAARVALGIT TVLTMTTINT HLRETLPKIP
310 320 330 340 350
YVKAIDMYLM GCFVFVFMAL LEYALVNYIF FGRGPQRQKK AAEKAASANN
360 370 380 390 400
EKMRLDVNKI FYKDIKQNGT QYRSLWDPTG NLSPTRRTTN YDFSLYTMDP
410 420 430 440 450
HENILLSTLE IKNEMATSEA VMGLGDPRST MLAYDASSIQ YRKAGLPRHS
460 470 480 490 500
FGRNALERHV AQKKSRLRRR ASQLKITIPD LTDVNAIDRW SRIFFPVVFS
510
FFNIVYWLYY VN
Length:512
Mass (Da):59,150
Last modified:March 23, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC390A0C92815DD89
GO
Isoform 2 (identifier: P47870-1) [UniParc]FASTAAdd to basket
Also known as: Short, Beta-2S

The sequence of this isoform differs from the canonical sequence as follows:
     360-397: Missing.

Show »
Length:474
Mass (Da):54,606
Checksum:i1390A982EB616332
GO
Isoform 3 (identifier: P47870-3) [UniParc]FASTAAdd to basket
Also known as: Beta-2S1

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: Missing.
     360-376: IFYKDIKQNGTQYRSLW → VNSEGKPSLLLKLMEEC
     377-512: Missing.

Show »
Length:313
Mass (Da):36,086
Checksum:i5914B38B94A611B2
GO
Isoform 4 (identifier: P47870-4) [UniParc]FASTAAdd to basket
Also known as: Beta-2S2

The sequence of this isoform differs from the canonical sequence as follows:
     360-397: Missing.
     410-410: E → D
     411-512: Missing.

Show »
Length:372
Mass (Da):42,741
Checksum:i0550692E2DD2662C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z279B7Z279_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB2
314Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EV50E7EV50_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB2
411Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti336Q → L in BAF82419 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08071279M → T in IECEE2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs606231468EnsemblClinVar.1
Natural variantiVAR_080713244Y → H in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554094149EnsemblClinVar.1
Natural variantiVAR_080714277L → S in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554094145EnsemblClinVar.1
Natural variantiVAR_080715284T → K in IECEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_080716287T → P in IECEE2; loss of localization to the cell membrane; retained intracellularly it affects the cell surface expression of the GABA receptor; decreased GABA receptor activity. 1 PublicationCorresponds to variant dbSNP:rs1554093894EnsemblClinVar.1
Natural variantiVAR_080717293R → P in IECEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_080718303K → R in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554093885EnsemblClinVar.1
Natural variantiVAR_080719304A → V in IECEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_080720316V → I in IECEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554093884EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0388231 – 63Missing in isoform 3. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_038825360 – 397Missing in isoform 2 and isoform 4. 5 PublicationsAdd BLAST38
Alternative sequenceiVSP_038824360 – 376IFYKD…YRSLW → VNSEGKPSLLLKLMEEC in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_038828377 – 512Missing in isoform 3. 1 PublicationAdd BLAST136
Alternative sequenceiVSP_038826410E → D in isoform 4. 1 Publication1
Alternative sequenceiVSP_038827411 – 512Missing in isoform 4. 1 PublicationAdd BLAST102

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
S67368 mRNA Translation: AAB29370.1
S77554 mRNA Translation: AAB33983.1
S77553 mRNA Translation: AAB33982.1
GU086163 mRNA Translation: ACY69094.1
GU086164 mRNA Translation: ACY69095.1
AK289730 mRNA Translation: BAF82419.1
AK289815 mRNA Translation: BAF82504.1
CH471062 Genomic DNA Translation: EAW61543.1
BC099705 mRNA Translation: AAH99705.1
BC099719 mRNA Translation: AAH99719.1
BC105639 mRNA Translation: AAI05640.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4354.1 [P47870-1]
CCDS4355.1 [P47870-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
I52656

NCBI Reference Sequences

More...
RefSeqi
NP_000804.1, NM_000813.2 [P47870-1]
NP_068711.1, NM_021911.2 [P47870-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000274547; ENSP00000274547; ENSG00000145864 [P47870-2]
ENST00000353437; ENSP00000274546; ENSG00000145864 [P47870-1]
ENST00000393959; ENSP00000377531; ENSG00000145864 [P47870-2]
ENST00000520240; ENSP00000429320; ENSG00000145864 [P47870-1]
ENST00000612710; ENSP00000480066; ENSG00000145864 [P47870-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2561

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2561

UCSC genome browser

More...
UCSCi
uc003lyr.2 human [P47870-2]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S67368 mRNA Translation: AAB29370.1
S77554 mRNA Translation: AAB33983.1
S77553 mRNA Translation: AAB33982.1
GU086163 mRNA Translation: ACY69094.1
GU086164 mRNA Translation: ACY69095.1
AK289730 mRNA Translation: BAF82419.1
AK289815 mRNA Translation: BAF82504.1
CH471062 Genomic DNA Translation: EAW61543.1
BC099705 mRNA Translation: AAH99705.1
BC099719 mRNA Translation: AAH99719.1
BC105639 mRNA Translation: AAI05640.1
CCDSiCCDS4354.1 [P47870-1]
CCDS4355.1 [P47870-2]
PIRiI52656
RefSeqiNP_000804.1, NM_000813.2 [P47870-1]
NP_068711.1, NM_021911.2 [P47870-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6D6Telectron microscopy3.80A/C25-331[»]
6D6Uelectron microscopy3.80A/C25-331[»]
SMRiP47870
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108835, 4 interactors
ComplexPortaliCPX-2159 GABA-A receptor, alpha-1/beta-2/gamma-2
CPX-2952 GABA-A receptor, alpha-6/beta-2/delta
CPX-2953 GABA-A receptor, alpha-4/beta-2/delta
CORUMiP47870
IntActiP47870, 4 interactors
MINTiP47870
STRINGi9606.ENSP00000274547

Chemistry databases

BindingDBiP47870
ChEMBLiCHEMBL1920
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB00404 Alprazolam
DB00543 Amoxapine
DB11901 Apalutamide
DB11859 Brexanolone
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB00395 Carisoprodol
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepic acid
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB06716 Fospropofol
DB01381 Ginkgo biloba
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB00555 Lamotrigine
DB00186 Lorazepam
DB01043 Memantine
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB01595 Nitrazepam
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB09118 Stiripentol
DB00306 Talbutal
DB01956 Taurine
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

DrugCentral

More...
DrugCentrali
P47870

Protein family/group databases

TCDBi1.A.9.5.2 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

PTM databases

iPTMnetiP47870
PhosphoSitePlusiP47870

Polymorphism and mutation databases

BioMutaiGABRB2
DMDMi292495010

Proteomic databases

MassIVEiP47870
PaxDbiP47870
PeptideAtlasiP47870
PRIDEiP47870
ProteomicsDBi55801 [P47870-2]
55802 [P47870-1]
55803 [P47870-3]
55804 [P47870-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274547; ENSP00000274547; ENSG00000145864 [P47870-2]
ENST00000353437; ENSP00000274546; ENSG00000145864 [P47870-1]
ENST00000393959; ENSP00000377531; ENSG00000145864 [P47870-2]
ENST00000520240; ENSP00000429320; ENSG00000145864 [P47870-1]
ENST00000612710; ENSP00000480066; ENSG00000145864 [P47870-3]
GeneIDi2561
KEGGihsa:2561
UCSCiuc003lyr.2 human [P47870-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2561
DisGeNETi2561

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GABRB2
HGNCiHGNC:4082 GABRB2
HPAiCAB001964
HPA067632
MalaCardsiGABRB2
MIMi600232 gene
617829 phenotype
neXtProtiNX_P47870
OpenTargetsiENSG00000145864
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA28496

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3643 Eukaryota
ENOG410XPWH LUCA
GeneTreeiENSGT00940000154245
InParanoidiP47870
KOiK05181
OMAiKNKMDPH
OrthoDBi480926at2759
PhylomeDBiP47870
TreeFamiTF315453

Enzyme and pathway databases

ReactomeiR-HSA-1236394 Signaling by ERBB4
R-HSA-977443 GABA receptor activation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GABRB2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GABRB2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2561

Pharos

More...
Pharosi
P47870

Protein Ontology

More...
PROi
PR:P47870

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145864 Expressed in 133 organ(s), highest expression level in primary visual cortex
ExpressionAtlasiP47870 baseline and differential
GenevisibleiP47870 HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR002289 GABAAb_rcpt
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR01160 GABAARBETA
PR00253 GABAARECEPTR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGBRB2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P47870
Secondary accession number(s): A8K115
, A8K1A0, D1LYT0, D1LYT1, Q16323, Q4FZB2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: March 23, 2010
Last modified: September 18, 2019
This is version 186 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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