Details for: GABBR2
Associated with
Other Information
Genular Protein ID: 1279502666
Symbol: GABR2_HUMAN
Name: Gamma-aminobutyric acid type B receptor subunit 2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9872316
Title: Heterodimerization is required for the formation of a functional GABA(B) receptor.
PubMed ID: 9872316
DOI: 10.1038/25354
PubMed ID: 10087195
Title: Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9.
PubMed ID: 10087195
PubMed ID: 10328880
Title: Molecular identification of the human GABABR2: cell surface expression and coupling to adenylyl cyclase in the absence of GABABR1.
PubMed ID: 10328880
PubMed ID: 10727622
Title: Distribution of the GABA(B) receptor subunit gb2 in rat CNS.
PubMed ID: 10727622
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10075644
Title: Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity.
PubMed ID: 10075644
PubMed ID: 9872744
Title: Role of heteromer formation in GABAB receptor function.
PubMed ID: 9872744
PubMed ID: 10906333
Title: Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor.
PubMed ID: 10906333
PubMed ID: 10773016
Title: Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor.
PubMed ID: 10773016
PubMed ID: 26740508
Title: Identification of novel genetic causes of Rett syndrome-like phenotypes.
PubMed ID: 26740508
PubMed ID: 15617512
Title: Subcellular distribution of GABA(B) receptor homo- and hetero-dimers.
PubMed ID: 15617512
DOI: 10.1042/bj20041435
PubMed ID: 18165688
Title: Direct detection of the interaction between recombinant soluble extracellular regions in the heterodimeric metabotropic gamma-aminobutyric acid receptor.
PubMed ID: 18165688
PubMed ID: 22660477
Title: Structure and functional interaction of the extracellular domain of human GABA(B) receptor GBR2.
PubMed ID: 22660477
DOI: 10.1038/nn.3133
PubMed ID: 24305054
Title: Structural mechanism of ligand activation in human GABA(B) receptor.
PubMed ID: 24305054
DOI: 10.1038/nature12725
PubMed ID: 29100083
Title: High rate of recurrent de novo mutations in developmental and epileptic encephalopathies.
PubMed ID: 29100083
PubMed ID: 28856709
Title: GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
PubMed ID: 28856709
DOI: 10.1002/ana.25032
PubMed ID: 29369404
Title: A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
PubMed ID: 29369404
DOI: 10.1002/ana.25155
Sequence Information:
- Length: 941
- Mass: 105821
- Checksum: 09F1773DB0673C5D
- Sequence:
MASPRSSGQP GPPPPPPPPP ARLLLLLLLP LLLPLAPGAW GWARGAPRPP PSSPPLSIMG LMPLTKEVAK GSIGRGVLPA VELAIEQIRN ESLLRPYFLD LRLYDTECDN AKGLKAFYDA IKYGPNHLMV FGGVCPSVTS IIAESLQGWN LVQLSFAATT PVLADKKKYP YFFRTVPSDN AVNPAILKLL KHYQWKRVGT LTQDVQRFSE VRNDLTGVLY GEDIEISDTE SFSNDPCTSV KKLKGNDVRI ILGQFDQNMA AKVFCCAYEE NMYGSKYQWI IPGWYEPSWW EQVHTEANSS RCLRKNLLAA MEGYIGVDFE PLSSKQIKTI SGKTPQQYER EYNNKRSGVG PSKFHGYAYD GIWVIAKTLQ RAMETLHASS RHQRIQDFNY TDHTLGRIIL NAMNETNFFG VTGQVVFRNG ERMGTIKFTQ FQDSREVKVG EYNAVADTLE IINDTIRFQG SEPPKDKTII LEQLRKISLP LYSILSALTI LGMIMASAFL FFNIKNRNQK LIKMSSPYMN NLIILGGMLS YASIFLFGLD GSFVSEKTFE TLCTVRTWIL TVGYTTAFGA MFAKTWRVHA IFKNVKMKKK IIKDQKLLVI VGGMLLIDLC ILICWQAVDP LRRTVEKYSM EPDPAGRDIS IRPLLEHCEN THMTIWLGIV YAYKGLLMLF GCFLAWETRN VSIPALNDSK YIGMSVYNVG IMCIIGAAVS FLTRDQPNVQ FCIVALVIIF CSTITLCLVF VPKLITLRTN PDAATQNRRF QFTQNQKKED SKTSTSVTSV NQASTSRLEG LQSENHRLRM KITELDKDLE EVTMQLQDTP EKTTYIKQNH YQELNDILNL GNFTESTDGG KAILKNHLDQ NPQLQWNTTE PSRTCKDPIE DINSPEHIQR RLSLQLPILH HAYLPSIGGV DASCVSPCVS PTASPRHRHV PPSFRVMVSG L
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.