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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-Experimental evidence at protein leveli

Functioni

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei224AgonistBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit beta-2
Alternative name(s):
GABA(A) receptor subunit beta-2
Gene namesi
Name:GABRB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:4082. GABRB2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 244ExtracellularCuratedAdd BLAST219
Transmembranei245 – 266HelicalCuratedAdd BLAST22
Transmembranei270 – 292HelicalCuratedAdd BLAST23
Transmembranei304 – 326HelicalCuratedAdd BLAST23
Topological domaini327 – 489CytoplasmicCuratedAdd BLAST163
Transmembranei490 – 511HelicalCuratedAdd BLAST22

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi389T → A: Displays reduced current rundown following repeated receptor activation. 1 Publication1

Organism-specific databases

DisGeNETi2561.
OpenTargetsiENSG00000145864.
PharmGKBiPA28496.

Chemistry databases

ChEMBLiCHEMBL1920.
DrugBankiDB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB00543. Amoxapine.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB00475. Chlordiazepoxide.
DB01594. Cinolazepam.
DB00349. Clobazam.
DB01068. Clonazepam.
DB00628. Clorazepate.
DB01559. Clotiazepam.
DB01189. Desflurane.
DB00829. Diazepam.
DB00228. Enflurane.
DB01049. Ergoloid mesylate.
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.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00273. Topiramate.
DB00897. Triazolam.

Polymorphism and mutation databases

BioMutaiGABRB2.
DMDMi292495010.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25By similarityAdd BLAST25
ChainiPRO_000000045926 – 512Gamma-aminobutyric acid receptor subunit beta-2Add BLAST487

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi32N-linked (GlcNAc...)Sequence analysis1
Glycosylationi104N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi160 ↔ 174By similarity
Glycosylationi173N-linked (GlcNAc...)Sequence analysis1
Modified residuei441PhosphotyrosineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP47870.
PeptideAtlasiP47870.
PRIDEiP47870.

PTM databases

iPTMnetiP47870.
PhosphoSitePlusiP47870.

Expressioni

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

BgeeiENSG00000145864.
CleanExiHS_GABRB2.
ExpressionAtlasiP47870. baseline and differential.
GenevisibleiP47870. HS.

Organism-specific databases

HPAiCAB001964.
HPA067632.

Interactioni

Subunit structurei

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:8264558). 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).By similarity1 Publication

Protein-protein interaction databases

BioGridi108835. 4 interactors.
IntActiP47870. 1 interactor.
MINTiMINT-268409.
STRINGi9606.ENSP00000274547.

Chemistry databases

BindingDBiP47870.

Structurei

3D structure databases

ProteinModelPortaliP47870.
SMRiP47870.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni119 – 121Agonist bindingBy similarity3
Regioni179 – 181Agonist bindingBy similarity3
Regioni289 – 310Allosteric effector bindingBy similarityAdd BLAST22

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3643. Eukaryota.
ENOG410XPWH. LUCA.
GeneTreeiENSGT00760000118821.
HOVERGENiHBG051707.
InParanoidiP47870.
KOiK05181.
OMAiHMTQKKS.
OrthoDBiEOG091G0805.
PhylomeDBiP47870.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR002289. GABAAb_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01160. GABAARBETA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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

        10         20         30         40         50
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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti336Q → L in BAF82419 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.303527.

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]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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]
UniGeneiHs.303527.

3D structure databases

ProteinModelPortaliP47870.
SMRiP47870.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108835. 4 interactors.
IntActiP47870. 1 interactor.
MINTiMINT-268409.
STRINGi9606.ENSP00000274547.

Chemistry databases

BindingDBiP47870.
ChEMBLiCHEMBL1920.
DrugBankiDB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB00543. Amoxapine.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB00475. Chlordiazepoxide.
DB01594. Cinolazepam.
DB00349. Clobazam.
DB01068. Clonazepam.
DB00628. Clorazepate.
DB01559. Clotiazepam.
DB01189. Desflurane.
DB00829. Diazepam.
DB00228. Enflurane.
DB01049. Ergoloid mesylate.
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.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00273. Topiramate.
DB00897. Triazolam.

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

PaxDbiP47870.
PeptideAtlasiP47870.
PRIDEiP47870.

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

CTDi2561.
DisGeNETi2561.
GeneCardsiGABRB2.
HGNCiHGNC:4082. GABRB2.
HPAiCAB001964.
HPA067632.
MIMi600232. gene.
neXtProtiNX_P47870.
OpenTargetsiENSG00000145864.
PharmGKBiPA28496.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3643. Eukaryota.
ENOG410XPWH. LUCA.
GeneTreeiENSGT00760000118821.
HOVERGENiHBG051707.
InParanoidiP47870.
KOiK05181.
OMAiHMTQKKS.
OrthoDBiEOG091G0805.
PhylomeDBiP47870.
TreeFamiTF315453.

Enzyme and pathway databases

ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.

Miscellaneous databases

GeneWikiiGABRB2.
GenomeRNAii2561.
PROiP47870.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145864.
CleanExiHS_GABRB2.
ExpressionAtlasiP47870. baseline and differential.
GenevisibleiP47870. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR002289. GABAAb_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01160. GABAARBETA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGBRB2_HUMAN
AccessioniPrimary (citable) accession number: P47870
Secondary accession number(s): A8K115
, A8K1A0, D1LYT0, D1LYT1, Q16323, Q4FZB2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: March 23, 2010
Last modified: November 30, 2016
This is version 160 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.