UniProtKB - P18507 (GBRG2_HUMAN)
Gamma-aminobutyric acid receptor subunit gamma-2
GABRG2
Functioni
Miscellaneous
Activity regulationi
GO - Molecular functioni
- benzodiazepine receptor activity Source: ProtInc
- chloride channel activity Source: UniProtKB
- GABA-A receptor activity Source: UniProtKB
- GABA-gated chloride ion channel activity Source: Ensembl
- inhibitory extracellular ligand-gated ion channel activity Source: GO_Central
- neurotransmitter receptor activity Source: GO_Central
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: GO_Central
GO - Biological processi
- adult behavior Source: Ensembl
- cellular response to histamine Source: UniProtKB
- chemical synaptic transmission Source: GO_Central
- chloride transmembrane transport Source: UniProtKB
- gamma-aminobutyric acid signaling pathway Source: GO_Central
- inhibitory synapse assembly Source: UniProtKB
- ion transmembrane transport Source: GO_Central
- nervous system process Source: GO_Central
- post-embryonic development Source: Ensembl
- regulation of membrane potential Source: GO_Central
- regulation of postsynaptic membrane potential Source: GO_Central
- signal transduction Source: GO_Central
- synaptic transmission, GABAergic Source: BHF-UCL
Keywordsi
Molecular function | Chloride channel, Ion channel |
Biological process | Ion transport, Transport |
Ligand | Chloride |
Enzyme and pathway databases
PathwayCommonsi | P18507 |
Reactomei | R-HSA-1236394, Signaling by ERBB4 R-HSA-977443, GABA receptor activation |
Protein family/group databases
TCDBi | 1.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-2Alternative name(s): GABA(A) receptor subunit gamma-2 |
Gene namesi | Name:GABRG2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4087, GABRG2 |
MIMi | 137164, gene |
neXtProti | NX_P18507 |
VEuPathDBi | HostDB:ENSG00000113327.14 |
Subcellular locationi
Plasma membrane
- postsynaptic cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
- Cell membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Other locations
- dendrite By similarity
- Cytoplasmic vesicle membrane By similarity
Plasma Membrane
- dendrite membrane Source: BHF-UCL
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: Reactome
- postsynaptic membrane Source: UniProtKB-SubCell
Other locations
- axon Source: Ensembl
- chloride channel complex Source: UniProtKB-KW
- cytoplasmic vesicle membrane Source: UniProtKB-SubCell
- GABA-A receptor complex Source: UniProtKB
- GABA-ergic synapse Source: Ensembl
- neuron projection Source: GO_Central
- postsynapse Source: GO_Central
- synapse Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 40 – 273 | ExtracellularCuratedAdd BLAST | 234 | |
Transmembranei | 274 – 296 | HelicalCuratedAdd BLAST | 23 | |
Transmembranei | 300 – 322 | HelicalCuratedAdd BLAST | 23 | |
Transmembranei | 334 – 356 | HelicalCuratedAdd BLAST | 23 | |
Topological domaini | 357 – 443 | CytoplasmicCuratedAdd BLAST | 87 | |
Transmembranei | 444 – 466 | HelicalCuratedAdd BLAST | 23 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 74 (EIEE74)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082266 | 106 | A → T in EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; does not affect zinc sensitivity; accelerates activation and prolonges deactivation. 1 PublicationCorresponds to variant dbSNP:rs796052505EnsemblClinVar. | 1 | |
Natural variantiVAR_082267 | 107 | I → T in EIEE74; increases protein abundance; retained in the endoplasmic reticulum; decreases cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates activation and prolonges deactivation. 1 Publication | 1 | |
Natural variantiVAR_082268 | 282 | P → S in EIEE74; increases protein abundance; retained in the endoplasmic reticulum decreases; cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates activation and prolonges deactivation. 1 PublicationCorresponds to variant dbSNP:rs796052508Ensembl. | 1 | |
Natural variantiVAR_078620 | 323 | R → Q in GEFS+3 and EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates deactivation. 2 PublicationsCorresponds to variant dbSNP:rs397514737Ensembl. | 1 | |
Natural variantiVAR_082269 | 323 | R → W in EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates deactivation. 1 PublicationCorresponds to variant dbSNP:rs796052510Ensembl. | 1 | |
Natural variantiVAR_082270 | 343 | F → L in EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; does not affect zinc sensitivity; accelerates activation and prolonges deactivation. 1 PublicationCorresponds to variants dbSNP:rs796052511 and dbSNP:rs1554100923EnsemblEnsembl. | 1 |
Epilepsy, childhood absence 2 (ECA2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014265 | 82 | R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 PublicationCorresponds to variant dbSNP:rs121909673EnsemblClinVar. | 1 |
Febrile seizures, familial, 8 (FEB8)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014265 | 82 | R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 PublicationCorresponds to variant dbSNP:rs121909673EnsemblClinVar. | 1 | |
Natural variantiVAR_038602 | 177 | R → G in FEB8. 1 PublicationCorresponds to variant dbSNP:rs267606837EnsemblClinVar. | 1 |
Generalized epilepsy with febrile seizures plus 3 (GEFS+3)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078620 | 323 | R → Q in GEFS+3 and EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates deactivation. 2 PublicationsCorresponds to variant dbSNP:rs397514737Ensembl. | 1 | |
Natural variantiVAR_014266 | 328 | K → M in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs121909672Ensembl. | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 2566 |
MalaCardsi | GABRG2 |
MIMi | 604233, phenotype 607681, phenotype 618396, phenotype |
OpenTargetsi | ENSG00000113327 |
Orphaneti | 64280, Childhood absence epilepsy 33069, Dravet syndrome 36387, Generalized epilepsy with febrile seizures-plus 1945, Rolandic epilepsy 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA28501 |
Miscellaneous databases
Pharosi | P18507, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2094120 CHEMBL2094121 CHEMBL2094122 CHEMBL2094130 CHEMBL2095172 CHEMBL2095190 CHEMBL2111339 CHEMBL2111366 CHEMBL2111370 CHEMBL2111392 CHEMBL2111413 |
DrugBanki | DB00659, Acamprosate DB00546, Adinazolam DB06579, Adipiplon DB00404, Alprazolam DB00543, Amoxapine DB11901, Apalutamide DB14719, Bentazepam DB12537, Benzodiazepine DB11859, Brexanolone DB01558, Bromazepam DB09017, Brotizolam DB00237, Butabarbital DB00241, Butalbital DB01489, Camazepam DB00395, Carisoprodol DB00475, Chlordiazepoxide DB14715, Cinazepam DB01594, Cinolazepam DB00349, Clobazam DB01068, Clonazepam DB00628, Clorazepic acid DB01559, Clotiazepam DB01553, Cloxazolam DB01511, Delorazepam DB01189, Desflurane DB00829, Diazepam DB13837, Doxefazepam DB00228, Enflurane DB01215, Estazolam DB00402, Eszopiclone DB00189, Ethchlorvynol DB01545, Ethyl loflazepate DB09166, Etizolam DB00292, Etomidate DB01567, Fludiazepam DB01205, Flumazenil DB01544, Flunitrazepam DB00690, Flurazepam DB01381, Ginkgo biloba DB01437, Glutethimide DB00801, Halazepam DB01159, Halothane DB00753, Isoflurane DB01587, Ketazolam DB00555, Lamotrigine DB13643, Loprazolam DB00186, Lorazepam DB13872, Lormetazepam DB13437, Medazepam DB00603, Medroxyprogesterone acetate DB01043, Memantine DB00371, Meprobamate DB00463, Metharbital DB01028, Methoxyflurane DB01107, Methyprylon DB15489, Mexazolam DB00683, Midazolam DB12458, Muscimol DB01595, Nitrazepam DB14028, Nordazepam DB00334, Olanzapine DB00842, Oxazepam DB14672, Oxazepam acetate DB00312, Pentobarbital DB00252, Phenytoin DB13335, Pinazepam DB01708, Prasterone DB01588, Prazepam DB00794, Primidone DB00818, Propofol DB01589, Quazepam DB01236, Sevoflurane DB09118, Stiripentol DB00306, Talbutal DB01956, Taurine DB00231, Temazepam DB11582, Thiocolchicoside DB00897, Triazolam DB00425, Zolpidem |
DrugCentrali | P18507 |
Genetic variation databases
BioMutai | GABRG2 |
DMDMi | 116242488 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 39 | Sequence analysisAdd BLAST | 39 | |
ChainiPRO_0000000477 | 40 – 467 | Gamma-aminobutyric acid receptor subunit gamma-2Add BLAST | 428 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 52 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 129 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 190 ↔ 204 | By similarity | ||
Glycosylationi | 247 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Lipoprotein, PalmitateProteomic databases
EPDi | P18507 |
MassIVEi | P18507 |
PeptideAtlasi | P18507 |
PRIDEi | P18507 |
ProteomicsDBi | 27833 53569 [P18507-1] 53570 [P18507-2] |
TopDownProteomicsi | P18507-2 [P18507-2] |
PTM databases
GlyGeni | P18507, 3 sites |
iPTMneti | P18507 |
PhosphoSitePlusi | P18507 |
SwissPalmi | P18507 |
Expressioni
Gene expression databases
Bgeei | ENSG00000113327, Expressed in middle temporal gyrus and 119 other tissues |
ExpressionAtlasi | P18507, baseline and differential |
Genevisiblei | P18507, HS |
Organism-specific databases
HPAi | ENSG00000113327, Tissue enriched (brain) |
Interactioni
Subunit structurei
Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:2538761, PubMed:29950725).
Interacts with GABARAP (PubMed:9892355).
Interacts with KIF21B (By similarity).
Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity).
Interacts with LHFPL4 (By similarity).
Interacts with SHISA7; interaction leads to the regulation of GABA(A) receptor trafficking, channel deactivation kinetics and pharmacology (By similarity).
By similarity3 PublicationsBinary interactionsi
Hide detailsP18507
With | #Exp. | IntAct |
---|---|---|
NOVA1 [P51513] | 2 | EBI-9008430,EBI-726123 |
Isoform 2 [P18507-2]
With | #Exp. | IntAct |
---|---|---|
GABARAP [O95166] | 3 | EBI-15096952,EBI-712001 |
Protein-protein interaction databases
BioGRIDi | 108840, 16 interactors |
ComplexPortali | CPX-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 |
CORUMi | P18507 |
IntActi | P18507, 15 interactors |
MINTi | P18507 |
STRINGi | 9606.ENSP00000410732 |
Chemistry databases
BindingDBi | P18507 |
Miscellaneous databases
RNActi | P18507, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P18507 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 425 – 442 | Interaction with GABARAPSequence analysisAdd BLAST | 18 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3642, Eukaryota |
GeneTreei | ENSGT00940000156685 |
HOGENOMi | CLU_010920_2_0_1 |
InParanoidi | P18507 |
OMAi | AQAGMCS |
OrthoDBi | 1057372at2759 |
PhylomeDBi | P18507 |
TreeFami | TF315453 |
Family and domain databases
Gene3Di | 2.70.170.10, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00253, GABAARECEPTR PR01620, GABAARGAMMA PR01622, GABAARGAMMA2 PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 19 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 19 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1W2PPN5 | A0A1W2PPN5_HUMAN | GABA(A) receptor subunit gamma-2 | GABRG2 | 385 | Annotation score: | ||
A0A1W2PPS4 | A0A1W2PPS4_HUMAN | GABA(A) receptor subunit gamma-2 | GABRG2 | 385 | Annotation score: | ||
A0A286YFI6 | A0A286YFI6_HUMAN | GABA(A) receptor subunit gamma-2 | GABRG2 | 498 | Annotation score: | ||
A0A1X7SBS5 | A0A1X7SBS5_HUMAN | GABA(A) receptor subunit gamma-2 | GABRG2 | 476 | Annotation score: | ||
A0A1X7SBZ8 | A0A1X7SBZ8_HUMAN | GABA(A) receptor subunit gamma-2 | GABRG2 | 507 | Annotation score: | ||
A0A1W2PQX1 | A0A1W2PQX1_HUMAN | Gamma-aminobutyric acid receptor su... | GABRG2 | 397 | Annotation score: | ||
A0A1W2PR49 | A0A1W2PR49_HUMAN | Gamma-aminobutyric acid receptor su... | GABRG2 | 445 | Annotation score: | ||
A0A1W2PRN4 | A0A1W2PRN4_HUMAN | Gamma-aminobutyric acid receptor su... | GABRG2 | 453 | Annotation score: | ||
A8MWU7 | A8MWU7_HUMAN | Gamma-aminobutyric acid receptor su... | GABRG2 | 372 | Annotation score: | ||
A0A1W2PSF4 | A0A1W2PSF4_HUMAN | Gamma-aminobutyric acid receptor su... | GABRG2 | 380 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 120 | T → M in CAA33437 (PubMed:2538761).Curated | 1 | |
Sequence conflicti | 181 | T → S in CAA33437 (PubMed:2538761).Curated | 1 | |
Sequence conflicti | 384 – 385 | Missing no nucleotide entry (PubMed:8382267).Curated | 2 | |
Sequence conflicti | 399 | E → D no nucleotide entry (PubMed:8382267).Curated | 1 | |
Sequence conflicti | 438 – 439 | IA → RI no nucleotide entry (PubMed:8382267).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065226 | 79 | N → S Found in a patient with generalized tonic-clonic seizures. 1 PublicationCorresponds to variant dbSNP:rs112894280Ensembl. | 1 | |
Natural variantiVAR_014265 | 82 | R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 PublicationCorresponds to variant dbSNP:rs121909673EnsemblClinVar. | 1 | |
Natural variantiVAR_071813 | 83 | P → 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_082266 | 106 | A → T in EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; does not affect zinc sensitivity; accelerates activation and prolonges deactivation. 1 PublicationCorresponds to variant dbSNP:rs796052505EnsemblClinVar. | 1 | |
Natural variantiVAR_082267 | 107 | I → T in EIEE74; increases protein abundance; retained in the endoplasmic reticulum; decreases cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates activation and prolonges deactivation. 1 Publication | 1 | |
Natural variantiVAR_038602 | 177 | R → G in FEB8. 1 PublicationCorresponds to variant dbSNP:rs267606837EnsemblClinVar. | 1 | |
Natural variantiVAR_078226 | 274 | Y → C Probable disease-associated variant found in a patient with generalized epilepsy with myoclonic atonic seizures, cognitive impairment and behavioral disorder. 1 Publication | 1 | |
Natural variantiVAR_082268 | 282 | P → S in EIEE74; increases protein abundance; retained in the endoplasmic reticulum decreases; cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates activation and prolonges deactivation. 1 PublicationCorresponds to variant dbSNP:rs796052508Ensembl. | 1 | |
Natural variantiVAR_078620 | 323 | R → Q in GEFS+3 and EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates deactivation. 2 PublicationsCorresponds to variant dbSNP:rs397514737Ensembl. | 1 | |
Natural variantiVAR_082269 | 323 | R → W in EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; increases zinc sensitivity; accelerates deactivation. 1 PublicationCorresponds to variant dbSNP:rs796052510Ensembl. | 1 | |
Natural variantiVAR_014266 | 328 | K → M in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs121909672Ensembl. | 1 | |
Natural variantiVAR_082270 | 343 | F → L in EIEE74; does not affect protein abundance; decreases cell surface expression; decreases current amplitude in response to GABA; does not affect zinc sensitivity; accelerates activation and prolonges deactivation. 1 PublicationCorresponds to variants dbSNP:rs796052511 and dbSNP:rs1554100923EnsemblEnsembl. | 1 | |
Natural variantiVAR_065163 | 357 | H → R1 PublicationCorresponds to variant dbSNP:rs17855003Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047323 | 211 | Y → WSRSIAQAGMCSGVISAHYS LRFWGSTDPPTLASRVAGIS D in isoform 3. Curated | 1 | |
Alternative sequenceiVSP_041124 | 376 | P → PLLRMFSFK in isoform 2 and isoform 3. 1 Publication | 1 |
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 |
CCDSi | CCDS4358.1 [P18507-1] CCDS4359.1 [P18507-2] CCDS47333.1 [P18507-3] |
PIRi | S03905 |
RefSeqi | NP_000807.2, NM_000816.3 [P18507-1] NP_944493.2, NM_198903.2 [P18507-3] NP_944494.1, NM_198904.2 [P18507-2] |
Genome annotation databases
Ensembli | ENST00000414552; ENSP00000410732; ENSG00000113327 [P18507-3] ENST00000639111; ENSP00000492125; ENSG00000113327 [P18507-1] ENST00000639213; ENSP00000491909; ENSG00000113327 [P18507-2] |
GeneIDi | 2566 |
KEGGi | hsa:2566 |
UCSCi | uc003lyy.5, human [P18507-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Protein Spotlight Forbidden fruit - Issue 56 of March 2005 |
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 |
CCDSi | CCDS4358.1 [P18507-1] CCDS4359.1 [P18507-2] CCDS47333.1 [P18507-3] |
PIRi | S03905 |
RefSeqi | NP_000807.2, NM_000816.3 [P18507-1] NP_944493.2, NM_198903.2 [P18507-3] NP_944494.1, NM_198904.2 [P18507-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6D6T | electron microscopy | 3.80 | E | 8-326 | [»] | |
6D6U | electron microscopy | 3.80 | E | 40-361 | [»] | |
E | 439-467 | [»] | ||||
6HUG | electron microscopy | 3.10 | C | 1-467 | [»] | |
6HUJ | electron microscopy | 3.04 | C | 1-467 | [»] | |
6HUK | electron microscopy | 3.69 | C | 1-467 | [»] | |
6HUO | electron microscopy | 3.26 | C | 1-467 | [»] | |
6HUP | electron microscopy | 3.58 | C | 1-467 | [»] | |
6I53 | electron microscopy | 3.20 | C | 1-467 | [»] | |
6X3S | electron microscopy | 3.12 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
6X3T | electron microscopy | 2.55 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
6X3U | electron microscopy | 3.49 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
6X3V | electron microscopy | 3.50 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
6X3W | electron microscopy | 3.30 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
6X3X | electron microscopy | 2.92 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
6X3Z | electron microscopy | 3.23 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
6X40 | electron microscopy | 2.86 | E | 8-361 | [»] | |
E | 440-467 | [»] | ||||
SMRi | P18507 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108840, 16 interactors |
ComplexPortali | CPX-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 |
CORUMi | P18507 |
IntActi | P18507, 15 interactors |
MINTi | P18507 |
STRINGi | 9606.ENSP00000410732 |
Chemistry databases
BindingDBi | P18507 |
ChEMBLi | CHEMBL2094120 CHEMBL2094121 CHEMBL2094122 CHEMBL2094130 CHEMBL2095172 CHEMBL2095190 CHEMBL2111339 CHEMBL2111366 CHEMBL2111370 CHEMBL2111392 CHEMBL2111413 |
DrugBanki | DB00659, Acamprosate DB00546, Adinazolam DB06579, Adipiplon DB00404, Alprazolam DB00543, Amoxapine DB11901, Apalutamide DB14719, Bentazepam DB12537, Benzodiazepine DB11859, Brexanolone DB01558, Bromazepam DB09017, Brotizolam DB00237, Butabarbital DB00241, Butalbital DB01489, Camazepam DB00395, Carisoprodol DB00475, Chlordiazepoxide DB14715, Cinazepam DB01594, Cinolazepam DB00349, Clobazam DB01068, Clonazepam DB00628, Clorazepic acid DB01559, Clotiazepam DB01553, Cloxazolam DB01511, Delorazepam DB01189, Desflurane DB00829, Diazepam DB13837, Doxefazepam DB00228, Enflurane DB01215, Estazolam DB00402, Eszopiclone DB00189, Ethchlorvynol DB01545, Ethyl loflazepate DB09166, Etizolam DB00292, Etomidate DB01567, Fludiazepam DB01205, Flumazenil DB01544, Flunitrazepam DB00690, Flurazepam DB01381, Ginkgo biloba DB01437, Glutethimide DB00801, Halazepam DB01159, Halothane DB00753, Isoflurane DB01587, Ketazolam DB00555, Lamotrigine DB13643, Loprazolam DB00186, Lorazepam DB13872, Lormetazepam DB13437, Medazepam DB00603, Medroxyprogesterone acetate DB01043, Memantine DB00371, Meprobamate DB00463, Metharbital DB01028, Methoxyflurane DB01107, Methyprylon DB15489, Mexazolam DB00683, Midazolam DB12458, Muscimol DB01595, Nitrazepam DB14028, Nordazepam DB00334, Olanzapine DB00842, Oxazepam DB14672, Oxazepam acetate DB00312, Pentobarbital DB00252, Phenytoin DB13335, Pinazepam DB01708, Prasterone DB01588, Prazepam DB00794, Primidone DB00818, Propofol DB01589, Quazepam DB01236, Sevoflurane DB09118, Stiripentol DB00306, Talbutal DB01956, Taurine DB00231, Temazepam DB11582, Thiocolchicoside DB00897, Triazolam DB00425, Zolpidem |
DrugCentrali | P18507 |
Protein family/group databases
TCDBi | 1.A.9.5.4, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
PTM databases
GlyGeni | P18507, 3 sites |
iPTMneti | P18507 |
PhosphoSitePlusi | P18507 |
SwissPalmi | P18507 |
Genetic variation databases
BioMutai | GABRG2 |
DMDMi | 116242488 |
Proteomic databases
EPDi | P18507 |
MassIVEi | P18507 |
PeptideAtlasi | P18507 |
PRIDEi | P18507 |
ProteomicsDBi | 27833 53569 [P18507-1] 53570 [P18507-2] |
TopDownProteomicsi | P18507-2 [P18507-2] |
Protocols and materials databases
ABCDi | P18507, 2 sequenced antibodies |
Antibodypediai | 28585, 378 antibodies |
Genome annotation databases
Ensembli | ENST00000414552; ENSP00000410732; ENSG00000113327 [P18507-3] ENST00000639111; ENSP00000492125; ENSG00000113327 [P18507-1] ENST00000639213; ENSP00000491909; ENSG00000113327 [P18507-2] |
GeneIDi | 2566 |
KEGGi | hsa:2566 |
UCSCi | uc003lyy.5, human [P18507-1] |
Organism-specific databases
CTDi | 2566 |
DisGeNETi | 2566 |
GeneCardsi | GABRG2 |
HGNCi | HGNC:4087, GABRG2 |
HPAi | ENSG00000113327, Tissue enriched (brain) |
MalaCardsi | GABRG2 |
MIMi | 137164, gene 604233, phenotype 607681, phenotype 618396, phenotype |
neXtProti | NX_P18507 |
OpenTargetsi | ENSG00000113327 |
Orphaneti | 64280, Childhood absence epilepsy 33069, Dravet syndrome 36387, Generalized epilepsy with febrile seizures-plus 1945, Rolandic epilepsy 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA28501 |
VEuPathDBi | HostDB:ENSG00000113327.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3642, Eukaryota |
GeneTreei | ENSGT00940000156685 |
HOGENOMi | CLU_010920_2_0_1 |
InParanoidi | P18507 |
OMAi | AQAGMCS |
OrthoDBi | 1057372at2759 |
PhylomeDBi | P18507 |
TreeFami | TF315453 |
Enzyme and pathway databases
PathwayCommonsi | P18507 |
Reactomei | R-HSA-1236394, Signaling by ERBB4 R-HSA-977443, GABA receptor activation |
Miscellaneous databases
BioGRID-ORCSi | 2566, 6 hits in 874 CRISPR screens |
ChiTaRSi | GABRG2, human |
GeneWikii | GABRG2 |
GenomeRNAii | 2566 |
Pharosi | P18507, Tclin |
PROi | PR:P18507 |
RNActi | P18507, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000113327, Expressed in middle temporal gyrus and 119 other tissues |
ExpressionAtlasi | P18507, baseline and differential |
Genevisiblei | P18507, HS |
Family and domain databases
Gene3Di | 2.70.170.10, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00253, GABAARECEPTR PR01620, GABAARGAMMA PR01622, GABAARGAMMA2 PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GBRG2_HUMAN | |
Accessioni | P18507Primary (citable) accession number: P18507 Secondary accession number(s): F5HB82 Q9UN15 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1990 |
Last sequence update: | October 17, 2006 | |
Last modified: | February 10, 2021 | |
This is version 218 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries - Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants