GABRR3 Gene
protein-coding GIFtS: 47
GCID: GC03M097705 (predicted)
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gamma-aminobutyric acid (GABA) A receptor, rho 3(Previous names: gamma-aminobutyric acid (GABA) receptor, rho 3 )
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Aliases
for GABRR3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 31 2 | | Gamma-Aminobutyric Acid (GABA) Receptor, Rho 31 2 | | GABA(A) Receptor Subunit Rho-32 3 | | GABA(C) Receptor2 3 | | Gamma-Aminobutyric Acid Receptor Subunit Rho-32 |
Export aliases for GABRR3 gene to outside databasesPrevious GC identifers: GC03M099188 GC03U900875 GC03M095075 |
Summaries
for GABRR3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GABRR3:
The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptictransmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamersto form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that ispredicted to inactivate the gene product. (provided by RefSeq, Jan 2012)
UniProtKB/Swiss-Prot: GBRR3_HUMAN, A8MPY1Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by bindingto the GABA/benzodiazepine receptor and opening an integral chloride channel (By similarity)
 summary
for GABRR3: GABAC receptors are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory
effects of GABA. Despite differing in physiology, biochemistry and pharmacology, GABAC receptors are viewed
as a subclass of GABAA receptors. GABAC receptors exist as both homo- and hetero-oligomeric pentamers of the
3 GABAC subunits which have so far been discovered; rho1, rho2, rho3. The resulting ion channel is not
blocked or modulated by GABAA receptor ligands, but is 10 times more sensitive to the effects of GABA and
selectively blocked by TPMPA. In addition, the GABAC receptor has a longer channel opening time and is
slower to desensitize. GABAC receptors are expressed in various brain regions and particularly high levels
are found in the retina.
Gene Wiki entry for GABRR3
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Genomic Views
for GABRR3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_018914.1 NC_000003.11 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GABRR3 gene promoter:
Oct-B1 Spz1 oct-B3 oct-B2 Pbx1a POU2F2 GATA-1 FOXC1 POU2F1 POU2F1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for GABRR3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRR3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q11.2 Ensembl cytogenetic band: 3q11.2 HGNC cytogenetic band: 3q12.2GABRR3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M097705: view genomic region
(about GC identifiers)
Start:
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97,705,517 bp from pter |
End:
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97,754,148 bp from pter |
Size:
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48,632 bases |
Orientation:
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minus strand |
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Proteins
for GABRR3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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: Q9UIV9Explore the universe of human proteins at neXtProt for GABRR3: NX_A8MPY1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_A8MPY1
GABRR3 Protein expression data from MOPED and PaxDb: --
REFSEQ proteins: NP_001099050.1
ENSEMBL proteins: ENSP00000420790 Reactome Protein details: A8MPY1
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
GABRR3 for ontologies About GeneDecksing
GABRR3 Antibody Products:
Assay Products for GABRR3: |
Protein
Domains /
Families
for GABRR3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GABRR3 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry A8MPY1ProtoNet protein and cluster: A8MPY1 UniProtKB/Swiss-Prot: GBRR3_HUMAN, A8MPY1Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5)subfamily. GABRR3 sub-subfamily |
Function
for GABRR3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: GBRR3_HUMAN, A8MPY1Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by bindingto the GABA/benzodiazepine receptor and opening an integral chloride channel (By similarity) Genatlas biochemistry entry for GABRR3:gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 3,subunit part of a trimeric receptor
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GABRR3
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRR3 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
GABRR3 for ontologies About GeneDecksing
|
Pathways & Interactions
for GABRR3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Transmission across Chemical Synapses | | | 2 | Ion channel transport | | | 3 | GABA A (rho) receptor activation | | | 4 | Activation of GABAB receptors | | | 5 | SLC-mediated transmembrane transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GABRR3
5/8 
Reactome Pathways for GABRR3 (see all 8)
GABRR3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GABRR3
2 Interacting proteins for GABRR3 (A8MPY13) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
GABRR3 for ontologies About GeneDecksing
|
Drugs & Compounds
for GABRR3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Compounds for GABRR3 available from Tocris Bioscience About this table
2 HMDB Compounds for GABRR3 About this table
10/22 DrugBank Compounds for GABRR3 (see all 22) About this table
Search CenterWatch for drugs/clinical trials and news about GABRR3 / GBRR3
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Transcripts
for GABRR3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GABRR3 gene: NM_001105580.2 Unigene Cluster for GABRR3: Gamma-aminobutyric acid (GABA) A receptor, rho 3 Hs.534578 [show with all ESTs]Unigene Representative Sequence: CR7492632 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000470589(uc021xbp.1) ENST00000472788(uc021xbo.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GABRR3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GABRR3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GABRR3 (NM_001105580) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GABRR3 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GABRR3 |
Additional cDNA sequence: CR749263.1 NR_047685.1 1 DOTS entry: DT.40111423 10 AceView cDNA sequences: BM663963 BU729919 BM693967 CR749263 AV704203 BM704030 BM663724 BM690845 H38274 H37916
GeneLoc Exon Structure
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Expression
for GABRR3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GABRR3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCATTGACAC
About this image
Genevestigator expression for GABRR3
SOURCE GeneReport for Unigene cluster: Hs.534578
SABiosciences Custom PCR Arrays for GABRR3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GABRR3
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRR3 |
Orthologs
for GABRR3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of human and mouse.
Orthologs for GABRR3 gene from 1 species (see representative species ) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Gabrr35 |
gamma-aminobutyric acid (GABA) receptor, rho 3 |
-- |
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16 (34.83 cM) 59407382 |
ENSEMBL Gene Tree for GABRR3 (if available)
TreeFam Gene Tree for GABRR3 (if available) |
Paralogs
for GABRR3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for GABRR3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for GABRR3 (97705517 - 97754148 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GABRR3
2 CNVs: 30178 30179 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GABRR3 |
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Disorders
/ Diseases
for GABRR3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GABRR3 for disorders About GeneDecksing
4  diseases for GABRR3: About MalaCardsessential tremor tremor neuronitis bipolar disorder
2 diseases from the University of Copenhagen DISEASES database for GABRR3:Schizoaffective disorder Essential tremor Human Genome Epidemiology (HuGE) Navigator: GABRR3 (5 documents)
Export disorders for GABRR3 gene to outside databases
|
Publications
for GABRR3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GABRR3 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with GABRR3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. (PubMed id 10542332)1, 2, 3 Bailey M.E.S.... Darlison M.G. (1999)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
- Atypical behavioural effects of lorazepam: clues to t he design of novel therapies? (PubMed id 20138190)7 Giersch A....Vidailhet P. (2010)
- Gamma-aminobutyric acid (GABA) receptor rho (GABRR) p olymorphisms and risk for essential tremor. (PubMed id 20820800)1 GarcA-a-MartA-n E....JimAcnez-JimAcnez F.J. (2010)
- Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)1 Craddock N....O'Donovan M.C. (2008)
- Benzodiazepines in epilepsy: pharmacology and pharmac okinetics. (PubMed id 18384456)7 Riss J....Collins S. (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)1 GratacA^s M....Carracedo A. (2008)
- Benzodiazepine metabolism: an analytical perspective. (PubMed id 18855614)7 Mandrioli R....Raggi M.A. (2008)
- GABA receptor rho subunit expression in the developing rat brain. (PubMed id 15617751)1 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)1 Croci C....Enz R. (2003)
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External Searches for GABRR3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing GABRR3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GABRR3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GABRR3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GABRR3 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for GABRR3 gene:
Search GeneIP for patents involving GABRR3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GABRR3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GABRR3 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GABRR3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRR3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GABRR3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GABRR3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GABRR3 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRR3 |
|  |  |  | | | | Search ThermoFisher Antibodies for GABRR3 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GABRR3 |
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