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Protein

Gamma-aminobutyric acid receptor subunit alpha-2

Gene

GABRA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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.

GO - Molecular functioni

  • benzodiazepine receptor activity Source: UniProtKB
  • GABA-A receptor activity Source: InterPro
  • GABA-gated chloride ion channel activity Source: GO_Central

GO - Biological processi

  • chloride transmembrane transport Source: GO_Central
  • gamma-aminobutyric acid signaling pathway Source: UniProtKB
  • ion transmembrane transport Source: Reactome
  • neurotransmitter transport Source: UniProtKB
  • regulation of neurotransmitter levels Source: UniProtKB
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

BioCyciZFISH:ENSG00000151834-MONOMER.
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 alpha-2
Alternative name(s):
GABA(A) receptor subunit alpha-2
Gene namesi
Name:GABRA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:4076. GABRA2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini29 – 251ExtracellularCuratedAdd BLAST223
Transmembranei252 – 273HelicalCuratedAdd BLAST22
Transmembranei279 – 300HelicalCuratedAdd BLAST22
Transmembranei313 – 334HelicalCuratedAdd BLAST22
Topological domaini335 – 419CytoplasmicCuratedAdd BLAST85
Transmembranei420 – 441HelicalCuratedAdd BLAST22

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2555.
MalaCardsiGABRA2.
MIMi103780. phenotype.
OpenTargetsiENSG00000151834.
PharmGKBiPA28490.

Chemistry databases

ChEMBLiCHEMBL4956.
DrugBankiDB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB01351. Amobarbital.
DB00543. Amoxapine.
DB01352. Aprobarbital.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB01353. Butethal.
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.
DB01544. Flunitrazepam.
DB00690. Flurazepam.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB01354. Heptabarbital.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01346. Quinidine barbiturate.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00599. Thiopental.
DB00273. Topiramate.
DB00897. Triazolam.
DB00425. Zolpidem.
DB01198. Zopiclone.
GuidetoPHARMACOLOGYi405.

Polymorphism and mutation databases

BioMutaiGABRA2.
DMDMi126302547.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000000043329 – 451Gamma-aminobutyric acid receptor subunit alpha-2Add BLAST423

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi38N-linked (GlcNAc...)Sequence analysis1
Glycosylationi138N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi166 ↔ 180By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP47869.
PeptideAtlasiP47869.
PRIDEiP47869.

PTM databases

iPTMnetiP47869.
PhosphoSitePlusiP47869.

Expressioni

Gene expression databases

BgeeiENSG00000151834.
CleanExiHS_GABRA2.
ExpressionAtlasiP47869. baseline and differential.
GenevisibleiP47869. HS.

Interactioni

Subunit structurei

Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with UBQLN1. Interacts with KIF21B.By similarity

Protein-protein interaction databases

BioGridi108829. 1 interactor.
IntActiP47869. 1 interactor.
STRINGi9606.ENSP00000348897.

Chemistry databases

BindingDBiP47869.

Structurei

3D structure databases

ProteinModelPortaliP47869.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP47869.
KOiK05175.
PhylomeDBiP47869.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005432. GABBAa2_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01079. GABAARALPHA.
PR01615. GABAARALPHA2.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P47869-1) [UniParc]FASTAAdd to basket

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
MKTKLNIYNM QFLLFVFLVW DPARLVLANI QEDEAKNNIT IFTRILDRLL
60 70 80 90 100
DGYDNRLRPG LGDSITEVFT NIYVTSFGPV SDTDMEYTID VFFRQKWKDE
110 120 130 140 150
RLKFKGPMNI LRLNNLMASK IWTPDTFFHN GKKSVAHNMT MPNKLLRIQD
160 170 180 190 200
DGTLLYTMRL TVQAECPMHL EDFPMDAHSC PLKFGSYAYT TSEVTYIWTY
210 220 230 240 250
NASDSVQVAP DGSRLNQYDL LGQSIGKETI KSSTGEYTVM TAHFHLKRKI
260 270 280 290 300
GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA
310 320 330 340 350
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GWAWDGKSVV
360 370 380 390 400
NDKKKEKASV MIQNNAYAVA VANYAPNLSK DPVLSTISKS ATTPEPNKKP
410 420 430 440 450
ENKPAEAKKT FNSVSKIDRM SRIVFPVLFG TFNLVYWATY LNREPVLGVS

P
Length:451
Mass (Da):51,326
Last modified:February 20, 2007 - v2
Checksum:i43F9F708B5A00FFD
GO
Isoform 2 (identifier: P47869-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: MKTKLNIYNM...SFGPVSDTDM → MRLKITLPSLREFLTDFWMVTIIGLDQDWE
     353-353: K → KSPSIKAEGITLTYNSVKAILQGAKLIWSKYIAFSWPSLFQEKTLEYLEKWMDCLTFKQSS

Note: No experimental confirmation available.
Show »
Length:456
Mass (Da):52,064
Checksum:i040306CCB7836206
GO

Sequence cautioni

The sequence BAD92532 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10 – 11MQ → IE in AAB27278 (PubMed:8391122).Curated2
Sequence conflicti343A → T in AAB27278 (PubMed:8391122).Curated1

Polymorphismi

Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIMi:103780].

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0542771 – 85MKTKL…SDTDM → MRLKITLPSLREFLTDFWMV TIIGLDQDWE in isoform 2. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_054278353K → KSPSIKAEGITLTYNSVKAI LQGAKLIWSKYIAFSWPSLF QEKTLEYLEKWMDCLTFKQS S in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S62907 mRNA. Translation: AAB27278.1.
AK125179 mRNA. Translation: BAG54159.1.
AK289662 mRNA. Translation: BAF82351.1.
AK293466 mRNA. Translation: BAH11514.1.
AB209295 mRNA. Translation: BAD92532.1. Different initiation.
AC084352 Genomic DNA. No translation available.
AC093745 Genomic DNA. No translation available.
AC095060 Genomic DNA. No translation available.
AC104072 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW93022.1.
CCDSiCCDS3471.1. [P47869-1]
PIRiI57947.
RefSeqiNP_000798.2. NM_000807.3. [P47869-1]
NP_001107647.1. NM_001114175.2. [P47869-1]
NP_001273756.1. NM_001286827.2. [P47869-2]
NP_001317619.1. NM_001330690.1.
XP_016863471.1. XM_017007982.1. [P47869-1]
XP_016863472.1. XM_017007983.1. [P47869-1]
UniGeneiHs.116250.
Hs.48372.

Genome annotation databases

EnsembliENST00000356504; ENSP00000348897; ENSG00000151834. [P47869-1]
ENST00000381620; ENSP00000371033; ENSG00000151834. [P47869-1]
ENST00000510861; ENSP00000421828; ENSG00000151834. [P47869-1]
ENST00000514090; ENSP00000421300; ENSG00000151834. [P47869-1]
GeneIDi2555.
KEGGihsa:2555.
UCSCiuc003gxc.5. human. [P47869-1]

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
S62907 mRNA. Translation: AAB27278.1.
AK125179 mRNA. Translation: BAG54159.1.
AK289662 mRNA. Translation: BAF82351.1.
AK293466 mRNA. Translation: BAH11514.1.
AB209295 mRNA. Translation: BAD92532.1. Different initiation.
AC084352 Genomic DNA. No translation available.
AC093745 Genomic DNA. No translation available.
AC095060 Genomic DNA. No translation available.
AC104072 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW93022.1.
CCDSiCCDS3471.1. [P47869-1]
PIRiI57947.
RefSeqiNP_000798.2. NM_000807.3. [P47869-1]
NP_001107647.1. NM_001114175.2. [P47869-1]
NP_001273756.1. NM_001286827.2. [P47869-2]
NP_001317619.1. NM_001330690.1.
XP_016863471.1. XM_017007982.1. [P47869-1]
XP_016863472.1. XM_017007983.1. [P47869-1]
UniGeneiHs.116250.
Hs.48372.

3D structure databases

ProteinModelPortaliP47869.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108829. 1 interactor.
IntActiP47869. 1 interactor.
STRINGi9606.ENSP00000348897.

Chemistry databases

BindingDBiP47869.
ChEMBLiCHEMBL4956.
DrugBankiDB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB01351. Amobarbital.
DB00543. Amoxapine.
DB01352. Aprobarbital.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB01353. Butethal.
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.
DB01544. Flunitrazepam.
DB00690. Flurazepam.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB01354. Heptabarbital.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01346. Quinidine barbiturate.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00599. Thiopental.
DB00273. Topiramate.
DB00897. Triazolam.
DB00425. Zolpidem.
DB01198. Zopiclone.
GuidetoPHARMACOLOGYi405.

Protein family/group databases

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

PTM databases

iPTMnetiP47869.
PhosphoSitePlusiP47869.

Polymorphism and mutation databases

BioMutaiGABRA2.
DMDMi126302547.

Proteomic databases

PaxDbiP47869.
PeptideAtlasiP47869.
PRIDEiP47869.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356504; ENSP00000348897; ENSG00000151834. [P47869-1]
ENST00000381620; ENSP00000371033; ENSG00000151834. [P47869-1]
ENST00000510861; ENSP00000421828; ENSG00000151834. [P47869-1]
ENST00000514090; ENSP00000421300; ENSG00000151834. [P47869-1]
GeneIDi2555.
KEGGihsa:2555.
UCSCiuc003gxc.5. human. [P47869-1]

Organism-specific databases

CTDi2555.
DisGeNETi2555.
GeneCardsiGABRA2.
HGNCiHGNC:4076. GABRA2.
MalaCardsiGABRA2.
MIMi103780. phenotype.
137140. gene.
neXtProtiNX_P47869.
OpenTargetsiENSG00000151834.
PharmGKBiPA28490.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP47869.
KOiK05175.
PhylomeDBiP47869.
TreeFamiTF315453.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000151834-MONOMER.
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

ChiTaRSiGABRA2. human.
GeneWikiiGABRA2.
GenomeRNAii2555.
PROiP47869.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151834.
CleanExiHS_GABRA2.
ExpressionAtlasiP47869. baseline and differential.
GenevisibleiP47869. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005432. GABBAa2_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01079. GABAARALPHA.
PR01615. GABAARALPHA2.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGBRA2_HUMAN
AccessioniPrimary (citable) accession number: P47869
Secondary accession number(s): A8K0U7, B7Z1H8, Q59G14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 20, 2007
Last modified: November 30, 2016
This is version 162 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 4
    Human chromosome 4: 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.