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P28476

- GBRR2_HUMAN

UniProt

P28476 - GBRR2_HUMAN

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Protein

Gamma-aminobutyric acid receptor subunit rho-2

Gene

GABRR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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.

GO - Molecular functioni

  1. chloride channel activity Source: UniProtKB-KW
  2. extracellular ligand-gated ion channel activity Source: InterPro
  3. GABA-A receptor activity Source: ProtInc

GO - Biological processi

  1. gamma-aminobutyric acid signaling pathway Source: Ensembl
  2. ion transmembrane transport Source: Reactome
  3. signal transduction Source: ProtInc
  4. synaptic transmission Source: Reactome
  5. transmembrane transport Source: Reactome
  6. transport Source: ProtInc
  7. visual perception Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_25168. GABA A (rho) receptor activation.
REACT_25387. Ligand-gated ion channel transport.
SignaLinkiP28476.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit rho-2
Alternative name(s):
GABA(A) receptor subunit rho-2
GABA(C) receptor
Gene namesi
Name:GABRR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:4091. GABRR2.

Subcellular locationi

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. integral component of plasma membrane Source: ProtInc
  4. plasma membrane Source: Reactome
  5. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28506.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 465445Gamma-aminobutyric acid receptor subunit rho-2PRO_0000000488Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi120 – 1201N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi178 ↔ 192By similarity
Glycosylationi254 – 2541N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP28476.
PRIDEiP28476.

PTM databases

PhosphoSiteiP28476.

Expressioni

Gene expression databases

BgeeiP28476.
ExpressionAtlasiP28476. baseline.
GenevestigatoriP28476.

Organism-specific databases

HPAiHPA016467.

Interactioni

Subunit structurei

Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By similarity).By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000386029.

Structurei

3D structure databases

ProteinModelPortaliP28476.
SMRiP28476. Positions 56-464.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 260240ExtracellularCuratedAdd
BLAST
Topological domaini347 – 44397CytoplasmicCuratedAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei261 – 28121HelicalSequence AnalysisAdd
BLAST
Transmembranei294 – 31421HelicalSequence AnalysisAdd
BLAST
Transmembranei326 – 34621HelicalSequence AnalysisAdd
BLAST
Transmembranei444 – 46421HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG77438.
GeneTreeiENSGT00760000118821.
HOGENOMiHOG000231335.
HOVERGENiHBG051707.
InParanoidiP28476.
KOiK05190.
OMAiDEHDFSM.
OrthoDBiEOG712TVZ.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00253. GABAARECEPTR.
PR01670. GABAARRHO.
PR01672. GABAARRHO2.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative initiation. Align

Isoform 1 (identifier: P28476-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MPYFTRLILF LFCLMVLVES RKPKRKRWTG QVEMPKPSHL YKKNLDVTKI
60 70 80 90 100
RKGKPQQLLR VDEHDFSMRP AFGGPAIPVG VDVQVESLDS ISEVDMDFTM
110 120 130 140 150
TLYLRHYWKD ERLAFSSASN KSMTFDGRLV KKIWVPDVFF VHSKRSFTHD
160 170 180 190 200
TTTDNIMLRV FPDGHVLYSM RITVTAMCNM DFSHFPLDSQ TCSLELESYA
210 220 230 240 250
YTDEDLMLYW KNGDESLKTD EKISLSQFLI QKFHTTSRLA FYSSTGWYNR
260 270 280 290 300
LYINFTLRRH IFFFLLQTYF PATLMVMLSW VSFWIDRRAV PARVSLGITT
310 320 330 340 350
VLTMTTIITG VNASMPRVSY VKAVDIYLWV SFVFVFLSVL EYAAVNYLTT
360 370 380 390 400
VQERKERKLR EKFPCMCGML HSKTMMLDGS YSESEANSLA GYPRSHILTE
410 420 430 440 450
EERQDKIVVH LGLSGEANAA RKKGLLKGQT GFRIFQNTHA IDKYSRLIFP
460
ASYIFFNLIY WSVFS
Length:465
Mass (Da):54,151
Last modified:October 31, 2012 - v5
Checksum:i209700077636A395
GO
Isoform 2 (identifier: P28476-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:490
Mass (Da):56,817
Checksum:i18F3AF79BD2D2B13
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti209 – 2091Y → H in AAA52510. (PubMed:1315307)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MVKPGGICSATGYWKAAFCL TDVHKM in isoform 2. CuratedVSP_044373

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M86868 mRNA. Translation: AAA52510.1.
AL121833 Genomic DNA. Translation: CAC07339.2.
BC130352 mRNA. Translation: AAI30353.1.
BC130354 mRNA. Translation: AAI30355.1.
CCDSiCCDS5020.3. [P28476-1]
PIRiA38079.
RefSeqiNP_002034.3. NM_002043.3. [P28476-1]
UniGeneiHs.719891.

Genome annotation databases

EnsembliENST00000402938; ENSP00000386029; ENSG00000111886. [P28476-1]
GeneIDi2570.
KEGGihsa:2570.
UCSCiuc003pnb.3. human. [P28476-1]

Polymorphism databases

DMDMi410516956.

Keywords - Coding sequence diversityi

Alternative initiation

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M86868 mRNA. Translation: AAA52510.1 .
AL121833 Genomic DNA. Translation: CAC07339.2 .
BC130352 mRNA. Translation: AAI30353.1 .
BC130354 mRNA. Translation: AAI30355.1 .
CCDSi CCDS5020.3. [P28476-1 ]
PIRi A38079.
RefSeqi NP_002034.3. NM_002043.3. [P28476-1 ]
UniGenei Hs.719891.

3D structure databases

ProteinModelPortali P28476.
SMRi P28476. Positions 56-464.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000386029.

Chemistry

BindingDBi P28476.
ChEMBLi CHEMBL2375.
DrugBanki DB00546. Adinazolam.
DB01558. Bromazepam.
DB01594. Cinolazepam.
DB01559. Clotiazepam.
DB00829. Diazepam.
DB01215. Estazolam.
DB01567. Fludiazepam.
DB00690. Flurazepam.
DB00801. Halazepam.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00842. Oxazepam.
DB01588. Prazepam.
DB01589. Quazepam.
DB00231. Temazepam.
DB00897. Triazolam.
GuidetoPHARMACOLOGYi 421.

PTM databases

PhosphoSitei P28476.

Polymorphism databases

DMDMi 410516956.

Proteomic databases

PaxDbi P28476.
PRIDEi P28476.

Protocols and materials databases

DNASUi 2570.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000402938 ; ENSP00000386029 ; ENSG00000111886 . [P28476-1 ]
GeneIDi 2570.
KEGGi hsa:2570.
UCSCi uc003pnb.3. human. [P28476-1 ]

Organism-specific databases

CTDi 2570.
GeneCardsi GC06M089967.
H-InvDB HIX0200918.
HGNCi HGNC:4091. GABRR2.
HPAi HPA016467.
MIMi 137162. gene.
neXtProti NX_P28476.
PharmGKBi PA28506.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG77438.
GeneTreei ENSGT00760000118821.
HOGENOMi HOG000231335.
HOVERGENi HBG051707.
InParanoidi P28476.
KOi K05190.
OMAi DEHDFSM.
OrthoDBi EOG712TVZ.
TreeFami TF315453.

Enzyme and pathway databases

Reactomei REACT_25168. GABA A (rho) receptor activation.
REACT_25387. Ligand-gated ion channel transport.
SignaLinki P28476.

Miscellaneous databases

ChiTaRSi GABRR2. human.
GeneWikii GABRR2.
GenomeRNAii 2570.
NextBioi 10165.
PROi P28476.
SOURCEi Search...

Gene expression databases

Bgeei P28476.
ExpressionAtlasi P28476. baseline.
Genevestigatori P28476.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. GABAA/Glycine_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 ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR00253. GABAARECEPTR.
PR01670. GABAARRHO.
PR01672. GABAARRHO2.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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).

Entry informationi

Entry nameiGBRR2_HUMAN
AccessioniPrimary (citable) accession number: P28476
Secondary accession number(s): A2BDE4, Q9H153
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 31, 2012
Last modified: October 29, 2014
This is version 150 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3