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P18507

- GBRG2_HUMAN

UniProt

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: 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.1 Publication

GO - Molecular functioni

  1. benzodiazepine receptor activity Source: ProtInc
  2. chloride channel activity Source: UniProtKB
  3. extracellular ligand-gated ion channel activity Source: InterPro
  4. GABA-A receptor activity Source: UniProtKB

GO - Biological processi

  1. adult behavior Source: Ensembl
  2. cellular response to histamine Source: UniProtKB
  3. chloride transmembrane transport Source: UniProtKB
  4. gamma-aminobutyric acid signaling pathway Source: ProtInc
  5. ion transmembrane transport Source: Reactome
  6. post-embryonic development Source: Ensembl
  7. synaptic transmission Source: Reactome
  8. synaptic transmission, GABAergic Source: BHF-UCL
  9. transmembrane transport Source: Reactome
  10. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:4087. GABRG2.

Subcellular locationi

Cell junctionsynapsepostsynaptic cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. axon Source: Ensembl
  2. cell junction Source: UniProtKB-KW
  3. chloride channel complex Source: UniProtKB-KW
  4. cytoplasm Source: Ensembl
  5. dendrite membrane Source: BHF-UCL
  6. GABA-A receptor complex Source: UniProtKB
  7. inhibitory synapse Source: Ensembl
  8. integral component of plasma membrane Source: UniProtKB
  9. plasma membrane Source: Reactome
  10. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Epilepsy, childhood absence 2 (ECA2) [MIM:607681]: A 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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti82 – 821R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 Publication
Corresponds to variant rs28933070 [ dbSNP | Ensembl ].
VAR_014265
Febrile seizures, familial, 8 (FEB8) [MIM:611277]: Seizures 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti82 – 821R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 Publication
Corresponds to variant rs28933070 [ dbSNP | Ensembl ].
VAR_014265
Natural varianti177 – 1771R → G in FEB8. 1 Publication
VAR_038602
Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti328 – 3281K → M in GEFS+3. 1 Publication
VAR_014266

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3939Sequence AnalysisAdd
BLAST
Chaini40 – 467428Gamma-aminobutyric acid receptor subunit gamma-2PRO_0000000477Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi52 – 521N-linked (GlcNAc...)Sequence Analysis
Glycosylationi129 – 1291N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi190 ↔ 204By similarity
Glycosylationi247 – 2471N-linked (GlcNAc...)Sequence Analysis

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

PaxDbiP18507.
PRIDEiP18507.

PTM databases

PhosphoSiteiP18507.

Expressioni

Gene expression databases

BgeeiP18507.
CleanExiHS_GABRG2.
ExpressionAtlasiP18507. baseline and differential.
GenevestigatoriP18507.

Interactioni

Subunit structurei

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with GABARAP.2 Publications

Protein-protein interaction databases

BioGridi108840. 2 interactions.
STRINGi9606.ENSP00000410732.

Structurei

3D structure databases

ProteinModelPortaliP18507.
SMRiP18507. Positions 65-466.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini40 – 273234ExtracellularCuratedAdd
BLAST
Topological domaini357 – 44387CytoplasmicCuratedAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei274 – 29623HelicalCuratedAdd
BLAST
Transmembranei300 – 32223HelicalCuratedAdd
BLAST
Transmembranei334 – 35623HelicalCuratedAdd
BLAST
Transmembranei444 – 46623HelicalCuratedAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni425 – 44218Interaction with GABARAPSequence AnalysisAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG238757.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP18507.
KOiK05186.
OMAiPGFTSQK.
OrthoDBiEOG7JX342.
PhylomeDBiP18507.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR005439. GABBAg2_rcpt.
IPR005437. GABBAg_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]
PRINTSiPR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01622. GABAARGAMMA2.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti120 – 1201T → M in CAA33437. (PubMed:2538761)Curated
Sequence conflicti181 – 1811T → S in CAA33437. (PubMed:2538761)Curated
Sequence conflicti384 – 3852Missing no nucleotide entry (PubMed:8382267)Curated
Sequence conflicti399 – 3991E → D no nucleotide entry (PubMed:8382267)Curated
Sequence conflicti438 – 4392IA → RI no nucleotide entry (PubMed:8382267)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791N → S Found in a patient with generalized tonic-clonic seizures. 1 Publication
VAR_065226
Natural varianti82 – 821R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 Publication
Corresponds to variant rs28933070 [ dbSNP | Ensembl ].
VAR_014265
Natural varianti177 – 1771R → G in FEB8. 1 Publication
VAR_038602
Natural varianti328 – 3281K → M in GEFS+3. 1 Publication
VAR_014266
Natural varianti357 – 3571H → R.1 Publication
Corresponds to variant rs17855003 [ dbSNP | Ensembl ].
VAR_065163

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei211 – 2111Y → WSRSIAQAGMCSGVISAHYS LRFWGSTDPPTLASRVAGIS D in isoform 3. CuratedVSP_047323
Alternative sequencei376 – 3761P → PLLRMFSFK in isoform 2 and isoform 3. 1 PublicationVSP_041124

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000356592; ENSP00000349000; ENSG00000113327. [P18507-2]
ENST00000361925; ENSP00000354651; ENSG00000113327. [P18507-1]
ENST00000414552; ENSP00000410732; ENSG00000113327. [P18507-3]
GeneIDi2566.
KEGGihsa:2566.
UCSCiuc003lyy.4. human. [P18507-2]
uc003lyz.4. human. [P18507-1]

Polymorphism databases

DMDMi116242488.

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:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.7195.

3D structure databases

ProteinModelPortali P18507.
SMRi P18507. Positions 65-466.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108840. 2 interactions.
STRINGi 9606.ENSP00000410732.

Chemistry

BindingDBi P18507.
ChEMBLi CHEMBL2094130.
DrugBanki DB00659. 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.
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.
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.
GuidetoPHARMACOLOGYi 414.

PTM databases

PhosphoSitei P18507.

Polymorphism databases

DMDMi 116242488.

Proteomic databases

PaxDbi P18507.
PRIDEi P18507.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356592 ; ENSP00000349000 ; ENSG00000113327 . [P18507-2 ]
ENST00000361925 ; ENSP00000354651 ; ENSG00000113327 . [P18507-1 ]
ENST00000414552 ; ENSP00000410732 ; ENSG00000113327 . [P18507-3 ]
GeneIDi 2566.
KEGGi hsa:2566.
UCSCi uc003lyy.4. human. [P18507-2 ]
uc003lyz.4. human. [P18507-1 ]

Organism-specific databases

CTDi 2566.
GeneCardsi GC05P161494.
HGNCi HGNC:4087. GABRG2.
MIMi 137164. gene.
604233. phenotype.
607681. phenotype.
611277. phenotype.
neXtProti NX_P18507.
Orphaneti 64280. Childhood absence epilepsy.
33069. Dravet syndrome.
36387. Generalized epilepsy with febrile seizures-plus.
PharmGKBi PA28501.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG238757.
GeneTreei ENSGT00760000119010.
HOGENOMi HOG000231337.
HOVERGENi HBG051707.
InParanoidi P18507.
KOi K05186.
OMAi PGFTSQK.
OrthoDBi EOG7JX342.
PhylomeDBi P18507.
TreeFami TF315453.

Enzyme and pathway databases

Reactomei REACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

Miscellaneous databases

GeneWikii GABRG2.
GenomeRNAii 2566.
NextBioi 10145.
PROi P18507.
SOURCEi Search...

Gene expression databases

Bgeei P18507.
CleanExi HS_GABRG2.
ExpressionAtlasi P18507. baseline and differential.
Genevestigatori P18507.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. GABAA/Glycine_rcpt.
IPR005439. GABBAg2_rcpt.
IPR005437. GABBAg_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01622. GABAARGAMMA2.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology."
    Pritchett D.B., Sontheimer H., Shivers B.D., Ymer S., Kettenmann H., Schofield P.R., Seeburg P.H.
    Nature 338:582-585(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
    Tissue: Brain.
  2. "Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2."
    Jiang S., Yu J., Wang J., Tan Z., Xue H., Feng G., He L., Yang H.
    DNA Seq. 11:373-382(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-357.
    Tissue: Brain.
  5. "Antibodies to the human gamma 2 subunit of the gamma-aminobutyric acidA/benzodiazepine receptor."
    Khan Z.U., Fernando L.P., Escriba P., Busquets X., Mallet J., Miralles C.P., Filla M., De Blas A.L.
    J. Neurochem. 60:961-971(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 357-443 (ISOFORM 1).
    Tissue: Brain cortex.
  6. "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton."
    Wang H., Bedford F.K., Brandon N.J., Moss S.J., Olsen R.W.
    Nature 397:69-72(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GABARAP.
  7. "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene."
    Baulac S., Huberfeld G., Gourfinkel-An I., Mitropoulou G., Beranger A., Prud'homme J.-F., Baulac M., Brice A., Bruzzone R., LeGuern E.
    Nat. Genet. 28:46-48(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GEFS+3 MET-328.
  8. "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures."
    Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., Williams D.A., Sutherland G.R., Mulley J.C., Scheffer I.E., Berkovic S.F.
    Nat. Genet. 28:49-52(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ECA2/FEB8 GLN-82.
  9. Cited for: VARIANT FEB8 GLY-177.
  10. "Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies."
    Shi X., Huang M.C., Ishii A., Yoshida S., Okada M., Morita K., Nagafuji H., Yasumoto S., Kaneko S., Kojima T., Hirose S.
    J. Hum. Genet. 55:375-378(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-79.

Entry informationi

Entry nameiGBRG2_HUMAN
AccessioniPrimary (citable) accession number: P18507
Secondary accession number(s): F5HB82
, Q6GRL6, Q6PCC3, Q9UDB3, Q9UN15
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: October 17, 2006
Last modified: October 29, 2014
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

Miscellaneous

This subunit carries the benzodiazepine binding site.

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

External Data

Dasty 3