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GABRR3 Gene

protein-coding GIFtS: 44

GC03M099188

gamma-aminobutyric acid (GABA) receptor, rho 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
DKFZp781O1955 ^²

Descriptions
GABA(A) receptor subunit rho-3 ^², ³
gamma-aminobutyric acid (GABA) receptor, rho 3 ^²
gamma-aminobutyric acid receptor subunit rho-3 ^²
gamma-aminobutyric acid receptor, rho 3 ^¹

External Ids
HGNC: 17969¹
Entrez Gene: 200959²
UniProtKB: A8MPY1³
Ensembl: ENSG00000183185⁷

Search outside databases for aliases for GABRR3 gene

Previous GC identifer: GC03U900875

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: GBRR3_HUMAN, A8MPY1

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

(By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q11.2 Ensembl cytogenetic band: 3q11.2 HGNC cytogenetic band: 3q12.2

GABRR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M099188: (about GC identifiers)

Start:	99,188,217 bp from pter
End:	99,236,521 bp from pter
Size:	48,305 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000003.10 NT_005612.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GBRR3_HUMAN, A8MPY1 (See protein sequence)

Recommended Name: Gamma-aminobutyric acid receptor subunit rho-3 precursor

Size: 467 amino acids; 54272 Da

Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma,

delta, and rho. Forms a ternary complex with SQSTM1 and PRKCZ (By similarity)

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane

protein (By similarity). Cell membrane; Multi-pass membrane protein (By similarity)

Secondary accessions: Q9UIV9

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_001099050.1

ENSEMBL proteins:

ENSP00000328115

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--
GO:0045211	postsynaptic membrane	IEA	--

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Antibodies for GABRR3:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for GABRR3

Assays for GABRR3:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry A8MPY1

ProtoNet protein and cluster: A8MPY1

UniProtKB/Swiss-Prot: GBRR3_HUMAN, A8MPY1

Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABRR3)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Applied Biosystems Silencer® siRNAs for GABRR3

Sigma-Aldrich siRNA and siRNA Panels for GABRR3

Sigma-Aldrich shRNA Panels and shRNA for GABRR3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_001105580
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001105580
untagged cDNA clone in CMV expression vector: NM_001105580

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001105580

UniProtKB/Swiss-Prot: GBRR3_HUMAN, A8MPY1

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

gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 3,subunit part of a trimeric receptor

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004890	GABA-A receptor activity	IEA	--
GO:0005216	ion channel activity	IEA	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--
GO:0030594	neurotransmitter receptor activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for GABRR3

Browse Small Molecules at Sigma-Aldrich

Compounds for GABRR3 available from Tocris Bioscience

Compound	Action	CAS number
THIP hydrochloride	GABAA agonist	[64603-91-4]
N-Methyllidocaine iodide	Enhances biosynthesis of phosphatidylinositol	[29199-61-9]
Muscimol	Potent GABAA agonist	[2763-96-4]
GABA	Endogenous agonist	[56-12-2]
SKF 97541	Extremely potent GABAB agonist	[127729-35-5]

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABRR3)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Sigma-Aldrich siRNA and siRNA Panels for GABRR3

Sigma-Aldrich shRNA Panels and shRNA for GABRR3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001105580

REFSEQ mRNAs for GABRR3 gene:

NM_001105580.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001105580

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001105580
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001105580
                                 untagged cDNA clone in CMV expression vector: NM_001105580

Additional cDNA sequence: CR749263.1

1 DOTS entry:

DT.40111423

10 AceView cDNA sequences:

BU729919 BM693967 BM663963 BM704030 CR749263 BM690845 AV704203 BM663724

H37916 H38274

highest scoring ESTs for GABRR3:

CR749263 AV704203 BM663724 BM663963 BM690845 BM693967 BM704030 BU729919 H37916 H38274

Unigene Cluster for GABRR3:

Gamma-aminobutyric acid (GABA) receptor, rho 3

Hs.534578 [show with all ESTs]

Unigene Representative Sequence: CR749263

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000329044

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

GABRR3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GABRR3

¹ / ²

2 probe-sets matching GABRR3 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
234410_at²	U133-B	1	1.00	1.00	--	--	--	--	--	--	--
234410_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCATTGACAC

SOURCE GeneReport for Unigene cluster: Hs.534578

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GABRR3 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	GABRR3¹	--	gamma-aminobutyric acid (GABA) receptor, rho 3	99.5(n) 99.14(a)	470869 XM_526252.2 XP_526252.1
cow (Bos taurus)	GABRR3¹	--	gamma-aminobutyric acid (GABA) receptor, rho 3	88.01(n) 84.58(a)	520166 XM_598401.3 XP_598401.2
rat (Rattus norvegicus)	Gabrr3¹	--	gamma-aminobutyric acid (GABA) receptor, rho 3	85.75(n) 84.88(a)	192258 NM_138897.1 NP_620252.1
mouse (Mus musculus)	Gabrr3^{1, 5}	16⁵	gamma-aminobutyric acid (GABA) receptor, rho 3^{1, 5}	84.38(n)¹ 84.67(a)¹	328699¹ NM_001081190.1¹ NP_001074659.1¹ AK141642⁵ BC151105⁵
chicken (Gallus gallus)	GABRR3¹	--	gamma-aminobutyric acid (GABA) receptor, rho 3	77.1(n) 80.47(a)	430981 XM_428531.2 XP_428531.2

About this table Species with no ortholog for GABRR3

ENSEMBL Gene Tree for GABRR3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/272 NCBI SNPs in GABRR3 are shown (see all 272 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 111)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs866719^1,2	A,C,F,H	99237512(-)	`TGTCAA/CGGACA`	1	--	ng3¹		5	MN EU EA WA	604
	rs832068^1,2	A,C,F,H	99236837(-)	`GTTTAT/CTGAGT`	1	--	ng3¹		8	MN EU EA WA NA	738
	rs832032^1,2	C,F,H,O	99209437(+)	`TAGGCA/TTCTAA`	1	Y/X	non¹		15	EU EA WA NA	1394
	rs1948382^1,2	A,C,F,H	99238090(-)	`ttgtcC/Ttagcc`	1	--	ng3¹		11	EU EA WA NA	980
	rs11711963^1,2	C,F,H	99237960(+)	`attcgT/Catttt`	1	--	ng3¹		8	EU EA WA	784
	rs832067^1,2	C,F,H	99236860(-)	`TTTGCC/TTAGGA`	1	--	ng3¹		12	MN EU EA WA NA	1114
	rs832066^1,2	A,C,F	99237083(+)	`ATGAAC/TACaaa`	1	--	ng3¹		3	NA	142
	rs832069^1,2	F	99236644(-)	`TTCTTT/CTTCCC`	1	--	ng3¹		1	MN	184
	rs832070^1,2	F	99236621(-)	`CCCTGA/GCATGC`	1	--	ng3¹		1	MN	184
	rs832030^1,2	A,C,F,H,O	99210417(-)	`ATAAGG/CATGCT`	1	--	int¹		8	MN NA EU EA WA	746

About this table

HapMap Linkage Disequilibrium images for GABRR3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

Human Genome Epidemiology Navigator: GABRR3 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

6 PubMed articles for GABRR3 gene:

Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. (PubMed id 10542332)^{2, 3, 4} Bailey M.E.... Darlison M.G. (1999)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)^{3, 4} Muzny D.M....Gibbs R.A. (2006)
Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)³ Craddock N....O'Donovan M.C. (2008)
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)³ GratacA^s M....Carracedo A. (2008)
GABA receptor rho subunit expression in the developing rat brain. (PubMed id 15617751)³ Alakuijala A....Pasternack M. (2005)
ZIP3, a new splice variant of the PKC-zeta-interacting protein family, binds to GABAC receptors, PKC-zeta, and Kv beta 2. (PubMed id 12431995)³ Croci C....Enz R. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 200959	HGNC: 17969	AceView: GABRR3	Ensembl:ENSG00000183185	euGenes: HUgn200959
ECgene: GABRR3	H-InvDB: GABRR3

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for GABRR3
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for GABRR3:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for GABRR3-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
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	Predesigned and custom siRNAs for GABRR3		Browse antibodies at Sigma-Aldrich
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Tocris compounds for GABRR3

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GABRR3 Gene

protein-coding GIFtS: 44

Aliases &
Descriptions
for GABRR3

Summaries
for GABRR3

Genomic Location
for GABRR3

Proteins
for GABRR3

Protein Domains/
Families
for GABRR3

Gene Function
for GABRR3

Pathways & Interactions
for GABRR3

Drugs & Compounds
for GABRR3

Transcripts
for GABRR3

Expression
for GABRR3

Orthologs
for GABRR3

Paralogs
for GABRR3

SNPs/Variants
for GABRR3

Disorders & Mutations
for GABRR3

Medical News
for GABRR3

Publications
for GABRR3

Search for GABRR3

Genome Databases showing GABRR3

Other Databases showing GABRR3

Specialized Databases showing GABRR3

Licensable Technologies
for GABRR3

Services
for GABRR3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GABRR3 Gene

protein-coding GIFtS: 44

Aliases & Descriptionsfor GABRR3

Summariesfor GABRR3

Genomic Locationfor GABRR3

Proteinsfor GABRR3

Protein Domains/Familiesfor GABRR3

Gene Functionfor GABRR3

Pathways & Interactionsfor GABRR3

Drugs & Compoundsfor GABRR3

Transcriptsfor GABRR3

Expression for GABRR3

Orthologsfor GABRR3

Paralogsfor GABRR3

SNPs/Variantsfor GABRR3

Disorders & Mutationsfor GABRR3

Medical Newsfor GABRR3

Publicationsfor GABRR3

Search for GABRR3

Genome Databases showing GABRR3

Other Databases showing GABRR3

Specialized Databases showing GABRR3

Licensable Technologiesfor GABRR3

Servicesfor GABRR3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GABRR3

Summaries
for GABRR3

Genomic Location
for GABRR3

Proteins
for GABRR3

Protein Domains/
Families
for GABRR3

Gene Function
for GABRR3

Pathways & Interactions
for GABRR3

Drugs & Compounds
for GABRR3

Transcripts
for GABRR3

Expression
for GABRR3

Orthologs
for GABRR3

Paralogs
for GABRR3

SNPs/Variants
for GABRR3

Disorders & Mutations
for GABRR3

Medical News
for GABRR3

Publications
for GABRR3

Licensable Technologies
for GABRR3

Services
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