ID E9PBQ7_HUMAN Unreviewed; 511 AA. AC E9PBQ7; DT 05-APR-2011, integrated into UniProtKB/TrEMBL. DT 05-APR-2011, sequence version 1. DT 16-JAN-2019, entry version 68. DE SubName: Full=Gamma-aminobutyric acid receptor subunit alpha-2 {ECO:0000313|Ensembl:ENSP00000427603}; GN Name=GABRA2 {ECO:0000313|Ensembl:ENSP00000427603}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000427603, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000427603, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., RA Waterston R.H., Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 RT and 4."; RL Nature 434:724-731(2005). RN [2] {ECO:0000313|Ensembl:ENSP00000427603} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) CC family. {ECO:0000256|RuleBase:RU000687, CC ECO:0000256|SAAS:SAAS00978283}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AC084352; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC093745; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC095060; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC104072; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR RefSeq; NP_001317619.1; NM_001330690.1. DR RefSeq; XP_011511977.1; XM_011513675.1. DR UniGene; Hs.116250; -. DR UniGene; Hs.48372; -. DR ProteinModelPortal; E9PBQ7; -. DR SMR; E9PBQ7; -. DR PRIDE; E9PBQ7; -. DR Ensembl; ENST00000507069; ENSP00000427603; ENSG00000151834. DR GeneID; 2555; -. DR UCSC; uc062win.1; human. DR CTD; 2555; -. DR EuPathDB; HostDB:ENSG00000151834.15; -. DR HGNC; HGNC:4076; GABRA2. DR OpenTargets; ENSG00000151834; -. DR eggNOG; KOG3642; Eukaryota. DR eggNOG; ENOG410XNQG; LUCA. DR GeneTree; ENSGT00940000157266; -. DR OMA; TTAEPNK; -. DR OrthoDB; 1057372at2759; -. DR PhylomeDB; E9PBQ7; -. DR ChiTaRS; GABRA2; human. DR GenomeRNAi; 2555; -. DR Proteomes; UP000005640; Chromosome 4. DR Bgee; ENSG00000151834; Expressed in 133 organ(s), highest expression level in amygdala. DR ExpressionAtlas; E9PBQ7; baseline and differential. DR GO; GO:0030424; C:axon; IEA:Ensembl. DR GO; GO:0030425; C:dendrite; IEA:Ensembl. DR GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl. DR GO; GO:0060077; C:inhibitory synapse; IEA:Ensembl. DR GO; GO:0099060; C:integral component of postsynaptic specialization membrane; IEA:Ensembl. DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl. DR GO; GO:0005230; F:extracellular ligand-gated ion channel activity; IEA:InterPro. DR GO; GO:0004890; F:GABA-A receptor activity; IEA:InterPro. DR GO; GO:0006821; P:chloride transport; IEA:InterPro. DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IEA:InterPro. DR Gene3D; 2.70.170.10; -; 1. DR InterPro; IPR006028; GABAA/Glycine_rcpt. DR InterPro; IPR001390; GABAAa_rcpt. DR InterPro; IPR005432; GABBAa2_rcpt. DR InterPro; IPR006202; Neur_chan_lig-bd. DR InterPro; IPR036734; Neur_chan_lig-bd_sf. DR InterPro; IPR006201; Neur_channel. DR InterPro; IPR036719; Neuro-gated_channel_TM_sf. DR InterPro; IPR006029; Neurotrans-gated_channel_TM. DR InterPro; IPR018000; Neurotransmitter_ion_chnl_CS. DR PANTHER; PTHR18945; PTHR18945; 2. DR PANTHER; PTHR18945:SF218; PTHR18945:SF218; 2. DR Pfam; PF02931; Neur_chan_LBD; 1. DR Pfam; PF02932; Neur_chan_memb; 1. DR PRINTS; PR01079; GABAARALPHA. DR PRINTS; PR01615; GABAARALPHA2. DR PRINTS; PR00253; GABAARECEPTR. DR PRINTS; PR00252; NRIONCHANNEL. DR SUPFAM; SSF63712; SSF63712; 1. DR SUPFAM; SSF90112; SSF90112; 1. DR TIGRFAMs; TIGR00860; LIC; 1. DR PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1. PE 1: Evidence at protein level; KW Cell membrane {ECO:0000256|SAAS:SAAS00081375}; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Disulfide bond {ECO:0000256|SAAS:SAAS00766067}; KW Ion channel {ECO:0000256|RuleBase:RU000687, KW ECO:0000256|SAAS:SAAS00457629}; KW Ion transport {ECO:0000256|RuleBase:RU000687, KW ECO:0000256|SAAS:SAAS00457629}; KW Membrane {ECO:0000256|SAAS:SAAS00081375, KW ECO:0000256|SAAS:SAAS00978768, ECO:0000256|SAM:Phobius}; KW Proteomics identification {ECO:0000213|PeptideAtlas:E9PBQ7}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}; KW Transmembrane {ECO:0000256|SAAS:SAAS00978768, KW ECO:0000256|SAM:Phobius}; KW Transmembrane helix {ECO:0000256|SAAS:SAAS00978768, KW ECO:0000256|SAM:Phobius}; KW Transport {ECO:0000256|RuleBase:RU000687, KW ECO:0000256|SAAS:SAAS00457629}. FT SIGNAL 1 28 {ECO:0000256|SAM:SignalP}. FT CHAIN 29 511 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003242776. FT TRANSMEM 250 274 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 281 300 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 315 337 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 483 501 Helical. {ECO:0000256|SAM:Phobius}. FT DOMAIN 43 249 Neur_chan_LBD. FT {ECO:0000259|Pfam:PF02931}. FT DOMAIN 257 497 Neur_chan_memb. FT {ECO:0000259|Pfam:PF02932}. SQ SEQUENCE 511 AA; 58228 MW; FEA49855AE25C20A CRC64; MKTKLNIYNM QFLLFVFLVW DPARLVLANI QEDEAKNNIT IFTRILDRLL DGYDNRLRPG LGDSITEVFT NIYVTSFGPV SDTDMEYTID VFFRQKWKDE RLKFKGPMNI LRLNNLMASK IWTPDTFFHN GKKSVAHNMT MPNKLLRIQD DGTLLYTMRL TVQAECPMHL EDFPMDAHSC PLKFGSYAYT TSEVTYIWTY NASDSVQVAP DGSRLNQYDL LGQSIGKETI KSSTGEYTVM TAHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GWAWDGKSVV NDKSPSIKAE GITLTYNSVK AILQGAKLIW SKYIAFSWPS LFQEKTLEYL EKWMDCLTFK QSSKKEKASV MIQNNAYAVA VANYAPNLSK DPVLSTISKS ATTPEPNKKP ENKPAEAKKT FNSVSKIDRM SRIVFPVLFG TFNLVYWATY LNREPVLGVS P //