Gamma-aminobutyric acid receptor subunit alpha-2 precursor

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Reviewed, UniProtKB/Swiss-Prot P47869 (GBRA2_HUMAN)

Last modified November 25, 2008. Version 81. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-2
Alternative name(s):
GABA(A) receptor subunit alpha-2

Gene names

Name:

GABRA2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	451 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

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General annotation (Comments)

Function	GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
Subunit structure	Binds UBQLN1 By similarity. Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
Subcellular location	Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Polymorphism	Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIM:103780].
Sequence similarities	Belongs to the ligand-gated ionic channel (TC 1.A.9) family. [View classification]

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Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Domain	Signal Transmembrane
Ligand	Chloride
Molecular function	Chloride channel Ionic channel
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	chloride transport Inferred from electronic annotation. Source: InterPro gamma-aminobutyric acid signaling pathway Ref.1 Inferred from mutant phenotype. Source: UniProtKB neurotransmitter transport Ref.1 Inferred from mutant phenotype. Source: UniProtKB regulation of neurotransmitter levels Ref.1 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW integral to synaptic vesicle membrane Ref.1 Inferred from direct assay. Source: UniProtKB postsynaptic membrane Inferred from electronic annotation. Source: InterPro
Molecular function	GABA-A receptor activity Inferred from electronic annotation. Source: InterPro benzodiazepine receptor activity Ref.1 Inferred from mutant phenotype. Source: UniProtKB chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW chloride ion binding Inferred from electronic annotation. Source: UniProtKB-KW extracellular ligand-gated ion channel activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 28

Potential

Chain

29 – 451

423

Gamma-aminobutyric acid receptor subunit alpha-2

PRO_0000000433

Regions

Topological domain

29 – 251

223

Extracellular Probable

Transmembrane

252 – 273

Probable

Transmembrane

279 – 300

Probable

Transmembrane

313 – 334

Probable

Topological domain

335 – 419

Cytoplasmic Probable

Transmembrane

420 – 441

Probable

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

138

N-linked (GlcNAc...) Potential

Disulfide bond

166 ↔ 180

By similarity

Experimental info

Sequence conflict

10 – 11

MQ → IE in AAB27278. Ref.1

Sequence conflict

343

A → T in AAB27278. Ref.1

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Sequences

Sequence

Length

Mass (Da)

Tools

P47869-1 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: 43F9F708B5A00FFD
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FASTA

451

51,326

        10         20         30         40         50         60 
MKTKLNIYNM QFLLFVFLVW DPARLVLANI QEDEAKNNIT IFTRILDRLL DGYDNRLRPG 

        70         80         90        100        110        120 
LGDSITEVFT NIYVTSFGPV SDTDMEYTID VFFRQKWKDE RLKFKGPMNI LRLNNLMASK 

       130        140        150        160        170        180 
IWTPDTFFHN GKKSVAHNMT MPNKLLRIQD DGTLLYTMRL TVQAECPMHL EDFPMDAHSC 

       190        200        210        220        230        240 
PLKFGSYAYT TSEVTYIWTY NASDSVQVAP DGSRLNQYDL LGQSIGKETI KSSTGEYTVM 

       250        260        270        280        290        300 
TAHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 

       310        320        330        340        350        360 
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GWAWDGKSVV NDKKKEKASV 

       370        380        390        400        410        420 
MIQNNAYAVA VANYAPNLSK DPVLSTISKS ATTPEPNKKP ENKPAEAKKT FNSVSKIDRM 

       430        440        450 
SRIVFPVLFG TFNLVYWATY LNREPVLGVS P

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors." Hadingham K.L., Wingrove P., le Bourdelles B., Palmer K.J., Ragan C.I., Whiting P.J. Mol. Pharmacol. 43:970-975(1993) [PubMed: 8391122] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations." Edenberg H.J., Dick D.M., Xuei X., Tian H., Almasy L., Bauer L.O., Crowe R.R., Goate A., Hesselbrock V., Jones K., Kwon J., Li T.-K., Nurnberger J.I. Jr., O'Connor S.J., Reich T., Rice J., Schuckit M.A., Porjesz B., Foroud T., Begleiter H. Am. J. Hum. Genet. 74:705-714(2004) [PubMed: 15024690] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ALCOHOLISM.
+	Additional computationally mapped references.

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Web resources

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

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Cross-references

Sequence databases
	S62907 mRNA. Translation: AAB27278.1. AB209295 mRNA. Translation: BAD92532.1. Different initiation.
PIR	I57947.
RefSeq	NP_000798.2. NP_001107647.1.
UniGene	Hs.116250
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000151834. Homo sapiens. [Contig view]
GeneID	2555.
KEGG	hsa:2555.
Organism-specific databases
H-InvDB	HIX0004189.
HGNC	HGNC:4076. GABRA2.
HPA	HPA014261.
MIM	103780. phenotype. 137140. gene.
PharmGKB	PA28490.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P47869.
HOVERGEN	P47869.
Gene expression databases
ArrayExpress	P47869.
CleanEx	HS_GABRA2.
GermOnline	ENSG00000151834. Homo sapiens.
Family and domain databases
InterPro	IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005432. GABBAa2_rcpt. IPR006029. Neu_channel_TM. IPR006202. Neur_chan_lig_bd. IPR006201. Neur_channel. [Graphical view]
Gene3D	G3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit.
PANTHER	PTHR18945. Neur_channel. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR01079. GABAARALPHA. PR01615. GABAARALPHA2. PR00253. GABAARECEPTR. PR00252. NRIONCHANNEL.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00404. Alprazolam. DB01558. Bromazepam. DB00829. Diazepam. DB00189. Ethchlorvynol. DB01567. Fludiazepam. DB01544. Flunitrazepam. DB00690. Flurazepam. DB00186. Lorazepam. DB00371. Meprobamate. DB00683. Midazolam.
LinkHub	P47869.
NextBio	10091.
SOURCE	Search...

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Entry information

Entry name

GBRA2_HUMAN

Accession

Primary (citable) accession number: P47869
Secondary accession number(s): Q59G14

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	February 20, 2007
Last modified:	November 25, 2008
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents