ID G5E9Z6_HUMAN Unreviewed; 367 AA. AC G5E9Z6; DT 14-DEC-2011, integrated into UniProtKB/TrEMBL. DT 14-DEC-2011, sequence version 1. DT 05-DEC-2018, entry version 65. DE SubName: Full=Gamma-aminobutyric acid (GABA) A receptor, alpha 2, isoform CRA_b {ECO:0000313|EMBL:EAW93023.1}; DE SubName: Full=Gamma-aminobutyric acid A receptor alpha 2 isoform 1 {ECO:0000313|EMBL:ALQ33539.1}; DE SubName: Full=Gamma-aminobutyric acid receptor subunit alpha-2 {ECO:0000313|Ensembl:ENSP00000423840}; GN Name=GABRA2 {ECO:0000313|EMBL:ALQ33539.1, GN ECO:0000313|Ensembl:ENSP00000423840}; GN ORFNames=hCG_15318 {ECO:0000313|EMBL:EAW93023.1}; 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:ENSP00000423840, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|EMBL:EAW93023.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=11181995; DOI=10.1126/science.1058040; RA Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., RA Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., RA Amanatides P., Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., RA Kodira C.D., Zheng X.H., Chen L., Skupski M., Subramanian G., RA Thomas P.D., Zhang J., Gabor Miklos G.L., Nelson C., Broder S., RA Clark A.G., Nadeau J., McKusick V.A., Zinder N., Levine A.J., RA Roberts R.J., Simon M., Slayman C., Hunkapiller M., Bolanos R., RA Delcher A., Dew I., Fasulo D., Flanigan M., Florea L., Halpern A., RA Hannenhalli S., Kravitz S., Levy S., Mobarry C., Reinert K., RA Remington K., Abu-Threideh J., Beasley E., Biddick K., Bonazzi V., RA Brandon R., Cargill M., Chandramouliswaran I., Charlab R., RA Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., RA Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., RA Guan P., Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., RA Lai Z., Lei Y., Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., RA Milshina N., Moore H.M., Naik A.K., Narayan V.A., Neelam B., RA Nusskern D., Rusch D.B., Salzberg S., Shao W., Shue B., Sun J., RA Wang Z., Wang A., Wang X., Wang J., Wei M., Wides R., Xiao C., Yan C., RA Yao A., Ye J., Zhan M., Zhang W., Zhang H., Zhao Q., Zheng L., RA Zhong F., Zhong W., Zhu S., Zhao S., Gilbert D., Baumhueter S., RA Spier G., Carter C., Cravchik A., Woodage T., Ali F., An H., Awe A., RA Baldwin D., Baden H., Barnstead M., Barrow I., Beeson K., Busam D., RA Carver A., Center A., Cheng M.L., Curry L., Danaher S., Davenport L., RA Desilets R., Dietz S., Dodson K., Doup L., Ferriera S., Garg N., RA Gluecksmann A., Hart B., Haynes J., Haynes C., Heiner C., Hladun S., RA Hostin D., Houck J., Howland T., Ibegwam C., Johnson J., Kalush F., RA Kline L., Koduru S., Love A., Mann F., May D., McCawley S., RA McIntosh T., McMullen I., Moy M., Moy L., Murphy B., Nelson K., RA Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., RA Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., RA Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., RA Tse S., Vech C., Wang G., Wetter J., Williams S., Williams M., RA Windsor S., Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., RA Guigo R., Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., RA Mi H., Lazareva B., Hatton T., Narechania A., Diemer K., RA Muruganujan A., Guo N., Sato S., Bafna V., Istrail S., Lippert R., RA Schwartz R., Walenz B., Yooseph S., Allen D., Basu A., Baxendale J., RA Blick L., Caminha M., Carnes-Stine J., Caulk P., Chiang Y.H., RA Coyne M., Dahlke C., Mays A., Dombroski M., Donnelly M., Ely D., RA Esparham S., Fosler C., Gire H., Glanowski S., Glasser K., Glodek A., RA Gorokhov M., Graham K., Gropman B., Harris M., Heil J., Henderson S., RA Hoover J., Jennings D., Jordan C., Jordan J., Kasha J., Kagan L., RA Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., Ma D., Majoros W., RA McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., Nodell M., RA Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., RA Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., RA Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.; RT "The sequence of the human genome."; RL Science 291:1304-1351(2001). RN [2] {ECO:0000313|Ensembl:ENSP00000423840, 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 [3] {ECO:0000313|EMBL:EAW93023.1} RP NUCLEOTIDE SEQUENCE. RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [4] {ECO:0000313|Ensembl:ENSP00000423840} RP IDENTIFICATION. RG Ensembl; RL Submitted (OCT-2011) to UniProtKB. RN [5] {ECO:0000313|EMBL:ALQ33539.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=26871637; DOI=10.1016/j.cell.2016.01.029; RA Yang X., Coulombe-Huntington J., Kang S., Sheynkman G.M., Hao T., RA Richardson A., Sun S., Yang F., Shen Y.A., Murray R., Spirohn K., RA Begg B.E., Duran-Frigola M., MacWilliams A., Pevzner S.J., Zhong Q., RA Trigg S.A., Tam S., Ghamsari L., Sahni N., Yi S., Rodriguez M.D., RA Balcha D., Tan G., Costanzo M., Andrews B., Boone C., Zhou X.J., RA Salehi-Ashtiani K., Charloteaux B., Chen A., Calderwood M.A., Aloy P., RA Roth F.P., Hill D.E., Iakoucheva L.M., Xia Y., Vidal M.; RT "Widespread Expansion of Protein Interaction Capabilities by RT Alternative Splicing."; RL Cell 164:805-817(2016). 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 EMBL; KU178081; ALQ33539.1; -; mRNA. DR EMBL; CH471069; EAW93023.1; -; Genomic_DNA. DR UniGene; Hs.116250; -. DR UniGene; Hs.48372; -. DR SMR; G5E9Z6; -. DR PeptideAtlas; G5E9Z6; -. DR PRIDE; G5E9Z6; -. DR Ensembl; ENST00000515082; ENSP00000423840; ENSG00000151834. DR UCSC; uc003gxe.3; human. 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 ChiTaRS; GABRA2; human. DR Proteomes; UP000005640; Chromosome 4. DR Bgee; ENSG00000151834; Expressed in 133 organ(s), highest expression level in amygdala. DR ExpressionAtlas; G5E9Z6; baseline and differential. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-KW. 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; 1. DR PANTHER; PTHR18945:SF218; PTHR18945:SF218; 1. 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:G5E9Z6}; KW Receptor {ECO:0000313|EMBL:ALQ33539.1}; 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 29 367 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5014091984. 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 DOMAIN 43 249 Neur_chan_LBD. FT {ECO:0000259|Pfam:PF02931}. FT DOMAIN 257 341 Neur_chan_memb. FT {ECO:0000259|Pfam:PF02932}. FT NON_TER 367 367 {ECO:0000313|EMBL:ALQ33539.1}. SQ SEQUENCE 367 AA; 42126 MW; D0A185E87B551CE2 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 NDKVSESFRV IIIKKIP //