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Aliases for GABRR3 Gene

Aliases for GABRR3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Rho3 Subunit (Gene/Pseudogene) 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 3 (Gene/Pseudogene) 2
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 3 2
  • Gamma-Aminobutyric Acid (GABA) Receptor, Rho 3 2
  • GABA(A) Receptor Subunit Rho-3 4
  • GABA(A) Receptor, Rho 3 2
  • GABA(C) Receptor 4

External Ids for GABRR3 Gene

Previous GeneCards Identifiers for GABRR3 Gene

  • GC03M099188
  • GC03U900875
  • GC03M097705
  • GC03M095075

Summaries for GABRR3 Gene

Entrez Gene Summary for GABRR3 Gene

  • The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]

GeneCards Summary for GABRR3 Gene

GABRR3 (Gamma-Aminobutyric Acid Type A Receptor Rho3 Subunit (Gene/Pseudogene)) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and GABAergic synapse. GO annotations related to this gene include protein domain specific binding and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GABRR3 Gene

  • 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.

Tocris Summary for GABRR3 Gene

  • GABAA-rho receptors, previously known as GABAC receptors, are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory effects of GABA. Despite differing in pharmacology, physiology and biochemistry, they are viewed as a subclass of GABAA receptors.

Gene Wiki entry for GABRR3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRR3 Gene

Genomics for GABRR3 Gene

Regulatory Elements for GABRR3 Gene

Enhancers for GABRR3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G098038 1.1 Ensembl ENCODE 0.7 -4.1 -4143 1.0 HDGF ATF1 MLX BRCA1 RAD21 CBX5 SCRT2 ZNF143 ZNF207 RCOR1 OR5K4 CRYBG3 GABRR3 GC03P098051
GH03G098013 0.7 ENCODE 0.3 +21.7 21673 0.2 PKNOX1 FOXA2 JUN CEBPB EP300 ZNF843 JUND PRDM6 STAT3 FOS RIOX2 ARL6 GABRR3
GH03G097981 0.9 FANTOM5 ENCODE 0.2 +52.3 52328 3.0 STAT1 PKNOX1 JUN CEBPB EP300 RARA FOXA1 JUND ATF3 BCL6 ARL6 RIOX2 OR5K3 OR5AC2 GABRR3
GH03G097987 0.2 Ensembl 0.2 +47.3 47304 0.4 RIOX2 GABRR3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABRR3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRR3 Gene

Chromosome:
3
Start:
97,986,673 bp from pter
End:
98,035,304 bp from pter
Size:
48,632 bases
Orientation:
Minus strand

Genomic View for GABRR3 Gene

Genes around GABRR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRR3 Gene

Proteins for GABRR3 Gene

  • Protein details for GABRR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MPY1-GBRR3_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit rho-3
    Protein Accession:
    A8MPY1
    Secondary Accessions:
    • Q9UIV9

    Protein attributes for GABRR3 Gene

    Size:
    467 amino acids
    Molecular mass:
    54272 Da
    Quaternary structure:
    • 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).

neXtProt entry for GABRR3 Gene

Post-translational modifications for GABRR3 Gene

  • Glycosylation at isoforms=220
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRR3 Gene

Domains & Families for GABRR3 Gene

Gene Families for GABRR3 Gene

Suggested Antigen Peptide Sequences for GABRR3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MPY1

UniProtKB/Swiss-Prot:

GBRR3_HUMAN :
  • 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.
Family:
  • 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.
genes like me logo Genes that share domains with GABRR3: view

Function for GABRR3 Gene

Molecular function for GABRR3 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 3,subunit part of a trimeric receptor
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for GABRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity NAS 10542332
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with GABRR3: view
genes like me logo Genes that share phenotypes with GABRR3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GABRR3

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GABRR3 Gene

Localization for GABRR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRR3 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRR3 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for GABRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRR3: view

Pathways & Interactions for GABRR3 Gene

genes like me logo Genes that share pathways with GABRR3: view

Interacting Proteins for GABRR3 Gene

Gene Ontology (GO) - Biological Process for GABRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway NAS 10542332
GO:0007268 chemical synaptic transmission NAS 10542332
genes like me logo Genes that share ontologies with GABRR3: view

No data available for SIGNOR curated interactions for GABRR3 Gene

Drugs & Compounds for GABRR3 Gene

(45) Drugs for GABRR3 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clotiazepam Approved, Illicit Pharma agonist, Target, potentiator 0
Estazolam Approved, Illicit Pharma agonist, Target, potentiator 4

(4) Additional Compounds for GABRR3 Gene - From: HMDB and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(??)-<i>cis</i>-2-CAMP
Full agonist, Agonist
THIP
Agonist
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(3) Tocris Compounds for GABRR3 Gene

Compound Action Cas Number
THIP hydrochloride GABAA agonist 85118-33-8
TPMPA Selective GABAA-rho antagonist 182485-36-5
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5

(7) ApexBio Compounds for GABRR3 Gene

Compound Action Cas Number
(R)-baclofen 69308-37-8
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Flumazenil Benzodiazepine antagonist 78755-81-4
Gabapentin GABA enhancer 60142-96-3
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
Rufinamide 106308-44-5
genes like me logo Genes that share compounds with GABRR3: view

Drug Products

Transcripts for GABRR3 Gene

mRNA/cDNA for GABRR3 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GABRR3 Gene

Gamma-aminobutyric acid (GABA) A receptor, rho 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRR3 Gene

No ASD Table

Relevant External Links for GABRR3 Gene

GeneLoc Exon Structure for
GABRR3
ECgene alternative splicing isoforms for
GABRR3

Expression for GABRR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRR3 Gene

This gene is overexpressed in Testis (x12.1), Liver (x8.5), and Brain - Substantia nigra (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of GABRR3 Gene:

GABRR3

SOURCE GeneReport for Unigene cluster for GABRR3 Gene:

Hs.534578

Evidence on tissue expression from TISSUES for GABRR3 Gene

  • Eye(2.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with GABRR3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRR3 Gene

Orthologs for GABRR3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GABRR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRR3 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia GABRR3 34 35
  • 88.01 (n)
rat
(Rattus norvegicus)
Mammalia Gabrr3 34
  • 85.75 (n)
mouse
(Mus musculus)
Mammalia Gabrr3 34 16 35
  • 84.38 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRR3 35
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRR3 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRR3 34 35
  • 74.38 (n)
lizard
(Anolis carolinensis)
Reptilia GABRR3 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrr3 34
  • 72.11 (n)
zebrafish
(Danio rerio)
Actinopterygii gabrr3a 34 35
  • 67.15 (n)
gabrr3b 35
  • 67 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13992 34
Species where no ortholog for GABRR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GABRR3 Gene

ENSEMBL:
Gene Tree for GABRR3 (if available)
TreeFam:
Gene Tree for GABRR3 (if available)

Paralogs for GABRR3 Gene

genes like me logo Genes that share paralogs with GABRR3: view

Variants for GABRR3 Gene

Sequence variations from dbSNP and Humsavar for GABRR3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000036397 -- 98,028,677(+) CTGCA(G/T)GTGGT intron-variant
rs1000133520 -- 97,988,352(+) GGATT(A/G)CAGGC intron-variant
rs1000174004 -- 98,026,158(+) CAAGA(C/T)TGTAA intron-variant
rs1000340976 -- 98,013,420(+) AACTC(A/C)CCCAG intron-variant
rs1000394992 -- 98,016,510(+) GGGCC(A/T)AGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRR3 Gene

Variant ID Type Subtype PubMed ID
esv3383861 CNV duplication 20981092
nsv1013060 CNV gain 25217958
nsv470772 CNV loss 18288195
nsv509841 OTHER sequence alteration 20534489
nsv520553 CNV gain 19592680

Relevant External Links for GABRR3 Gene

Human Gene Mutation Database (HGMD)
GABRR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for GABRR3 Gene

Disorders for GABRR3 Gene

Relevant External Links for GABRR3

Genetic Association Database (GAD)
GABRR3
Human Genome Epidemiology (HuGE) Navigator
GABRR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRR3

No disorders were found for GABRR3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GABRR3 Gene

Publications for GABRR3 Gene

  1. Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. (PMID: 10542332) Bailey M.E.S. … Darlison M.G. (Biochim. Biophys. Acta 1999) 2 3 4 64
  2. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N. … O'Donovan M.C. (Mol. Psychiatry 2010) 3 46 64
  3. 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. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 3 4 64
  5. Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor. (PMID: 20820800) GarcA-a-MartA-n E. … JimAcnez-JimAcnez F.J. (J. Neurol. 2011) 3 64

Products for GABRR3 Gene

Sources for GABRR3 Gene

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