P28476 (GBRR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-aminobutyric acid receptor subunit rho-2

Alternative name(s):
GABA(A) receptor subunit rho-2
GABA(C) receptor

Gene names

Name:

GABRR2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	465 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

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. Rho-2 GABA receptor could play a role in retinal neurotransmission.
Subunit structure	Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 By similarity.
Subcellular location	Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Sequence similarities	Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR2 sub-subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative initiation
Domain	Signal Transmembrane Transmembrane helix
Ligand	Chloride
Molecular function	Chloride channel Ion channel
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	gamma-aminobutyric acid signaling pathway Inferred from electronic annotation. Source: Compara ion transmembrane transport Traceable author statement. Source: Reactome synaptic transmission Traceable author statement. Source: Reactome visual perception Inferred from electronic annotation. Source: Compara
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	GABA-A receptor activity Traceable author statement Ref.1. Source: ProtInc chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW extracellular ligand-gated ion channel activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative initiation. [Align] [Select]

Isoform 1 (identifier: P28476-1)

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.

Isoform 2 (identifier: P28476-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MVKPGGICSATGYWKAAFCLTDVHKM

Note: Isoform 2 could be translated from an upstream initiator ATG located in frame within the first coding exon. The probability of a signal peptide within this isoform is very low. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 465	445	Gamma-aminobutyric acid receptor subunit rho-2		PRO_0000000488
Regions
	Topological domain	21 – 260	240	Extracellular Probable
	Transmembrane	261 – 281	21	Helical; Potential
	Transmembrane	294 – 314	21	Helical; Potential
	Transmembrane	326 – 346	21	Helical; Potential
	Topological domain	347 – 443	97	Cytoplasmic Probable
	Transmembrane	444 – 464	21	Helical; Potential
Amino acid modifications
	Glycosylation	120	1	N-linked (GlcNAc...) Potential
	Glycosylation	254	1	N-linked (GlcNAc...) Potential
	Disulfide bond	178 ↔ 192		By similarity
Natural variations
	Alternative sequence	1	1	M → MVKPGGICSATGYWKAAFCL TDVHKM in isoform 2.		VSP_044373
Experimental info
	Sequence conflict	209	1	Y → H in AAA52510. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2012. Version 5. Checksum: 209700077636A395	FASTA	465	54,151
	10 20 30 40 50 60 MPYFTRLILF LFCLMVLVES RKPKRKRWTG QVEMPKPSHL YKKNLDVTKI RKGKPQQLLR 70 80 90 100 110 120 VDEHDFSMRP AFGGPAIPVG VDVQVESLDS ISEVDMDFTM TLYLRHYWKD ERLAFSSASN 130 140 150 160 170 180 KSMTFDGRLV KKIWVPDVFF VHSKRSFTHD TTTDNIMLRV FPDGHVLYSM RITVTAMCNM 190 200 210 220 230 240 DFSHFPLDSQ TCSLELESYA YTDEDLMLYW KNGDESLKTD EKISLSQFLI QKFHTTSRLA 250 260 270 280 290 300 FYSSTGWYNR LYINFTLRRH IFFFLLQTYF PATLMVMLSW VSFWIDRRAV PARVSLGITT 310 320 330 340 350 360 VLTMTTIITG VNASMPRVSY VKAVDIYLWV SFVFVFLSVL EYAAVNYLTT VQERKERKLR 370 380 390 400 410 420 EKFPCMCGML HSKTMMLDGS YSESEANSLA GYPRSHILTE EERQDKIVVH LGLSGEANAA 430 440 450 460 RKKGLLKGQT GFRIFQNTHA IDKYSRLIFP ASYIFFNLIY WSVFS
	Isoform 2 [UniParc]. Checksum: 18F3AF79BD2D2B13	FASTA	490	56,817
	10 20 30 40 50 60 MVKPGGICSA TGYWKAAFCL TDVHKMPYFT RLILFLFCLM VLVESRKPKR KRWTGQVEMP 70 80 90 100 110 120 KPSHLYKKNL DVTKIRKGKP QQLLRVDEHD FSMRPAFGGP AIPVGVDVQV ESLDSISEVD 130 140 150 160 170 180 MDFTMTLYLR HYWKDERLAF SSASNKSMTF DGRLVKKIWV PDVFFVHSKR SFTHDTTTDN 190 200 210 220 230 240 IMLRVFPDGH VLYSMRITVT AMCNMDFSHF PLDSQTCSLE LESYAYTDED LMLYWKNGDE 250 260 270 280 290 300 SLKTDEKISL SQFLIQKFHT TSRLAFYSST GWYNRLYINF TLRRHIFFFL LQTYFPATLM 310 320 330 340 350 360 VMLSWVSFWI DRRAVPARVS LGITTVLTMT TIITGVNASM PRVSYVKAVD IYLWVSFVFV 370 380 390 400 410 420 FLSVLEYAAV NYLTTVQERK ERKLREKFPC MCGMLHSKTM MLDGSYSESE ANSLAGYPRS 430 440 450 460 470 480 HILTEEERQD KIVVHLGLSG EANAARKKGL LKGQTGFRIF QNTHAIDKYS RLIFPASYIF 490 FNLIYWSVFS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4." Cutting G.R., Curristin S., Zoghbi H., O'Hara B., Seldin M.F., Uhl G.R. Genomics 12:801-806(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Retina.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 1).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M86868 mRNA. Translation: AAA52510.1. AL121833 Genomic DNA. Translation: CAC07339.2. BC130352 mRNA. Translation: AAI30353.1. BC130354 mRNA. Translation: AAI30355.1.
IPI	IPI00293005.
PIR	A38079.
RefSeq	NP_002034.3. NM_002043.3.
UniGene	Hs.719891.
3D structure databases
ProteinModelPortal	P28476.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000386029.
PTM databases
PhosphoSite	P28476.
Polymorphism databases
DMDM	306526281.
Proteomic databases
PaxDb	P28476.
PRIDE	P28476.
Protocols and materials databases
DNASU	2570.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000402938; ENSP00000386029; ENSG00000111886.
GeneID	2570.
KEGG	hsa:2570.
UCSC	uc003pnb.2. human.
Organism-specific databases
CTD	2570.
GeneCards	GC06M089967.
H-InvDB	HIX0200918.
HGNC	HGNC:4091. GABRR2.
HPA	HPA016467.
MIM	137162. gene.
neXtProt	NX_P28476.
PharmGKB	PA28506.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG77438.
HOGENOM	HOG000231335.
HOVERGEN	HBG051707.
InParanoid	P28476.
KO	K05190.
OMA	GFRIFQN.
OrthoDB	EOG4RJG1G.
PhylomeDB	P28476.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System. REACT_15518. Transmembrane transport of small molecules.
SignaLink	P28476.
Gene expression databases
ArrayExpress	P28476.
Bgee	P28476.
Genevestigator	P28476.
GermOnline	ENSG00000111886. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006028. GABAA_rcpt. IPR008059. GABAAa_rho2_rcpt. IPR008057. GABAAa_rho_rcpt. IPR006202. Neur_chan_lig-bd. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS. [Graphical view]
PANTHER	PTHR18945. PTHR18945. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR00253. GABAARECEPTR. PR01670. GABAARRHO. PR01672. GABAARRHO2. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P28476.
ChEMBL	CHEMBL2375.
ChiTaRS	GABRR2. human.
GenomeRNAi	2570.
NextBio	10165.
SOURCE	Search...

Entry information

Entry name

GBRR2_HUMAN

Accession

Primary (citable) accession number: P28476
Secondary accession number(s): A2BDE4, Q9H153

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 1992
Last sequence update:	October 31, 2012
Last modified:	May 29, 2013
This is version 134 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.