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P18507

- GBRG2_HUMAN

UniProt

P18507 - GBRG2_HUMAN

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
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    • History
      Entry version 159 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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
    5. protein binding 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

    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-SubCell

    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 context.
    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

    ArrayExpressiP18507.
    BgeeiP18507.
    CleanExiHS_GABRG2.
    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 65-374.
    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.
    HOGENOMiHOG000231337.
    HOVERGENiHBG051707.
    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

    MSSPNIWSTG SSVYSTPVFS QKMTVWILLL LSLYPGFTSQ KSDDDYEDYA    50
    SNKTWVLTPK VPEGDVTVIL NNLLEGYDNK LRPDIGVKPT LIHTDMYVNS 100
    IGPVNAINME YTIDIFFAQT WYDRRLKFNS TIKVLRLNSN MVGKIWIPDT 150
    FFRNSKKADA HWITTPNRML RIWNDGRVLY TLRLTIDAEC QLQLHNFPMD 200
    EHSCPLEFSS YGYPREEIVY QWKRSSVEVG DTRSWRLYQF SFVGLRNTTE 250
    VVKTTSGDYV VMSVYFDLSR RMGYFTIQTY IPCTLIVVLS WVSFWINKDA 300
    VPARTSLGIT TVLTMTTLST IARKSLPKVS YVTAMDLFVS VCFIFVFSAL 350
    VEYGTLHYFV SNRKPSKDKD KKKKNPAPTI DIRPRSATIQ MNNATHLQER 400
    DEEYGYECLD GKDCASFFCC FEDCRTGAWR HGRIHIRIAK MDSYARIFFP 450
    TAFCLFNLVY WVSYLYL 467
    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 65-374.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108840. 2 interactions.
    STRINGi 9606.ENSP00000410732.

    Chemistry

    BindingDBi P18507.
    ChEMBLi CHEMBL2111370.
    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 context.
    PharmGKBi PA28501.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238757.
    HOGENOMi HOG000231337.
    HOVERGENi HBG051707.
    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

    ArrayExpressi P18507.
    Bgeei P18507.
    CleanExi HS_GABRG2.
    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

    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 1, 2014
    This is version 159 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