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UniProtKB - P18507 (GBRG2_HUMAN)

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Protein

Gamma-aminobutyric acid receptor subunit gamma-2

Gene

GABRG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.1 Publication

Miscellaneous

This subunit carries the benzodiazepine binding site.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionChloride channel, Ion channel
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

ReactomeiR-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-977441 GABA A receptor activation

Protein family/group databases

TCDBi1.A.9.5.4 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit gamma-2
Alternative name(s):
GABA(A) receptor subunit gamma-2
Gene namesi
Name:GABRG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113327.14
HGNCiHGNC:4087 GABRG2
MIMi137164 gene
neXtProtiNX_P18507

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini40 – 273ExtracellularCuratedAdd BLAST234
Transmembranei274 – 296HelicalCuratedAdd BLAST23
Transmembranei300 – 322HelicalCuratedAdd BLAST23
Transmembranei334 – 356HelicalCuratedAdd BLAST23
Topological domaini357 – 443CytoplasmicCuratedAdd BLAST87
Transmembranei444 – 466HelicalCuratedAdd BLAST23

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Epilepsy, childhood absence 2 (ECA2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood.
See also OMIM:607681
Febrile seizures, familial, 8 (FEB8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSeizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
See also OMIM:611277
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038602177R → G in FEB8. 1 PublicationCorresponds to variant dbSNP:rs267606837EnsemblClinVar.1
Generalized epilepsy with febrile seizures plus 3 (GEFS+3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
See also OMIM:611277
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078620323R → Q in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs397514737EnsemblClinVar.1
Natural variantiVAR_014266328K → M in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs121909672Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi2566
MalaCardsiGABRG2
MIMi604233 phenotype
607681 phenotype
611277 phenotype
OpenTargetsiENSG00000113327
Orphaneti64280 Childhood absence epilepsy
33069 Dravet syndrome
36387 Generalized epilepsy with febrile seizures-plus
PharmGKBiPA28501

Chemistry databases

ChEMBLiCHEMBL2111392
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB06579 Adipiplon
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
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB01381 Ginkgo biloba
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

Polymorphism and mutation databases

BioMutaiGABRG2
DMDMi116242488

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 39Sequence analysisAdd BLAST39
ChainiPRO_000000047740 – 467Gamma-aminobutyric acid receptor subunit gamma-2Add BLAST428

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi52N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi129N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi190 ↔ 204By similarity
Glycosylationi247N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

EPDiP18507
PeptideAtlasiP18507
PRIDEiP18507
ProteomicsDBi53569
53570 [P18507-2]
TopDownProteomicsiP18507-2 [P18507-2]

PTM databases

iPTMnetiP18507
PhosphoSitePlusiP18507
SwissPalmiP18507

Expressioni

Gene expression databases

BgeeiENSG00000113327
CleanExiHS_GABRG2
ExpressionAtlasiP18507 baseline and differential
GenevisibleiP18507 HS

Organism-specific databases

HPAiCAB079060

Interactioni

Subunit structurei

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:2538761). Interacts with GABARAP (PubMed:9892355). Interacts with KIF21B (By similarity).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GABARAPO951663EBI-15096952,EBI-712001

Protein-protein interaction databases

BioGridi108840, 15 interactors
ComplexPortaliCPX-2159 GABA-A receptor alpha-1/beta-2/gamma-2
CPX-2164 GABA-A receptor alpha-6/beta-3/gamma-2
CPX-2166 GABA-A receptor alpha-3/beta-3/gamma-2
CPX-2167 GABA-A receptor alpha-1/beta-3/gamma-2
CPX-2168 GABA-A receptor alpha-5/beta-3/gamma-2
CPX-2174 GABA-A receptor alpha-2/beta-3/gamma-2
CORUMiP18507
IntActiP18507, 1 interactor

Chemistry databases

BindingDBiP18507

Structurei

3D structure databases

ProteinModelPortaliP18507
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni425 – 442Interaction with GABARAPSequence analysisAdd BLAST18

Sequence similaritiesi

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily. [View classification]Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00760000119010
HOGENOMiHOG000231337
HOVERGENiHBG051707
InParanoidiP18507
KOiK05186
OMAiYPGFTSQ
OrthoDBiEOG091G0805
PhylomeDBiP18507
TreeFamiTF315453

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR005439 GABBAg2_rcpt
IPR005437 GABBAg_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
PRINTSiPR00253 GABAARECEPTR
PR01620 GABAARGAMMA
PR01622 GABAARGAMMA2
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P18507-1) [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
MSSPNIWSTG SSVYSTPVFS QKMTVWILLL LSLYPGFTSQ KSDDDYEDYA 
        60         70         80         90        100
SNKTWVLTPK VPEGDVTVIL NNLLEGYDNK LRPDIGVKPT LIHTDMYVNS 
       110        120        130        140        150
IGPVNAINME YTIDIFFAQT WYDRRLKFNS TIKVLRLNSN MVGKIWIPDT 
       160        170        180        190        200
FFRNSKKADA HWITTPNRML RIWNDGRVLY TLRLTIDAEC QLQLHNFPMD 
       210        220        230        240        250
EHSCPLEFSS YGYPREEIVY QWKRSSVEVG DTRSWRLYQF SFVGLRNTTE 
       260        270        280        290        300
VVKTTSGDYV VMSVYFDLSR RMGYFTIQTY IPCTLIVVLS WVSFWINKDA 
       310        320        330        340        350
VPARTSLGIT TVLTMTTLST IARKSLPKVS YVTAMDLFVS VCFIFVFSAL 
       360        370        380        390        400
VEYGTLHYFV SNRKPSKDKD KKKKNPAPTI DIRPRSATIQ MNNATHLQER 
       410        420        430        440        450
DEEYGYECLD GKDCASFFCC FEDCRTGAWR HGRIHIRIAK MDSYARIFFP 
       460 
TAFCLFNLVY WVSYLYL
Length:467
Mass (Da):54,162
Last modified:October 17, 2006 - v2
Checksum:i7450DFE1157C9224
GO
Isoform 2 (identifier: P18507-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     376-376: P → PLLRMFSFK

Show »
Length:475
Mass (Da):55,186
Checksum:iDE142F62846576DF
GO
Isoform 3 (identifier: P18507-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     211-211: Y → WSRSIAQAGMCSGVISAHYSLRFWGSTDPPTLASRVAGISD
     376-376: P → PLLRMFSFK

Note: No experimental confirmation available.
Show »
Length:515
Mass (Da):59,344
Checksum:iC450709F7B8F9DD1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti120T → M in CAA33437 (PubMed:2538761).Curated1
Sequence conflicti181T → S in CAA33437 (PubMed:2538761).Curated1
Sequence conflicti384 – 385Missing no nucleotide entry (PubMed:8382267).Curated2
Sequence conflicti399E → D no nucleotide entry (PubMed:8382267).Curated1
Sequence conflicti438 – 439IA → RI no nucleotide entry (PubMed:8382267).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06522679N → S Found in a patient with generalized tonic-clonic seizures. 1 PublicationCorresponds to variant dbSNP:rs112894280Ensembl.1
Natural variantiVAR_01426582R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 PublicationCorresponds to variant dbSNP:rs121909673EnsemblClinVar.1
Natural variantiVAR_07181383P → S Found in a patient with idiopathic generalized epilepsy; unknown pathological significance; the currents elicited by mutant receptors are indistinguishable from wild-type; no difference in sensitivity of the mutant receptors to the allosteric regulators zinc and benzodiazepine diazepam compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs587777365EnsemblClinVar.1
Natural variantiVAR_038602177R → G in FEB8. 1 PublicationCorresponds to variant dbSNP:rs267606837EnsemblClinVar.1
Natural variantiVAR_078226274Y → C Probable disease-associated mutation found in a patient with generalized epilepsy with myoclonic atonic seizures, cognitive impairment and behavioral disorder. 1 Publication1
Natural variantiVAR_078620323R → Q in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs397514737EnsemblClinVar.1
Natural variantiVAR_014266328K → M in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs121909672Ensembl.1
Natural variantiVAR_065163357H → R1 PublicationCorresponds to variant dbSNP:rs17855003Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047323211Y → WSRSIAQAGMCSGVISAHYS LRFWGSTDPPTLASRVAGIS D in isoform 3. Curated1
Alternative sequenceiVSP_041124376P → PLLRMFSFK in isoform 2 and isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15376 mRNA Translation: CAA33437.1
AF165124 Genomic DNA Translation: AAD50273.1
AC008611 Genomic DNA No translation available.
AC091926 Genomic DNA No translation available.
AC091984 Genomic DNA No translation available.
BC059389 mRNA Translation: AAH59389.1
BC069348 mRNA Translation: AAH69348.1
BC074795 mRNA Translation: AAH74795.1
CCDSiCCDS4358.1 [P18507-1]
CCDS4359.1 [P18507-2]
CCDS47333.1 [P18507-3]
PIRiS03905
RefSeqiNP_000807.2, NM_000816.3 [P18507-1]
NP_944493.2, NM_198903.2 [P18507-3]
NP_944494.1, NM_198904.2 [P18507-2]
UniGeneiHs.7195

Genome annotation databases

EnsembliENST00000414552; ENSP00000410732; ENSG00000113327 [P18507-3]
ENST00000639111; ENSP00000492125; ENSG00000113327 [P18507-2]
ENST00000639213; ENSP00000491909; ENSG00000113327 [P18507-1]
GeneIDi2566
KEGGihsa:2566
UCSCiuc003lyy.5 human [P18507-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiGBRG2_HUMAN
AccessioniPrimary (citable) accession number: P18507
Secondary accession number(s): F5HB82
, Q6GRL6, Q6PCC3, Q9UDB3, Q9UN15
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: October 17, 2006
Last modified: July 18, 2018
This is version 197 of the entry and version 2 of the sequence. See 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

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