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 pr... See more...

Aliases for GABRR3 Gene

Aliases for GABRR3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Rho3 2 3
  • Gamma-Aminobutyric Acid Type A Receptor Subunit Rho3 (Gene/Pseudogene) 2 5
  • Gamma-Aminobutyric Acid Receptor Subunit Rho-3 3 4
  • GABA(A) Receptor Subunit Rho-3 3 4
  • GABA(C) Receptor 3 4
  • Gamma-Aminobutyric Acid Type A Receptor Rho3 Subunit 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 3 3
  • Gamma-Aminobutyric Acid (GABA) Receptor, Rho 3 2
  • GABA(A) Receptor, Rho 3 2
  • GABRR3 5

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 Subunit Rho3) is a Protein Coding gene. Diseases associated with GABRR3 include Conjunctival Vascular Disease and Anterograde Amnesia. Among its related pathways are Nicotine addiction and Sweet Taste Signaling. Gene Ontology (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 Summary 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

Additional gene information for GABRR3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRR3 Gene

Genomics for GABRR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J098035 Promoter 0.6 EPDnew 600.7 0.0 -31 0.1 NFE2 ZNF316 MAFF MAFG MAFK NFE2L2 GABRR3 CRYBG3 OR5BM1P OR5AC2
GH03J098038 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 0.7 -4.1 -4098 0.9 CREB1 GATAD2A CTCF RXRB REST RAD21 RCOR1 TRIM22 SCRT2 CEBPB OR5K4 CRYBG3 GABRR3 OR5BM1P OR5AC2
GH03J098013 Enhancer 0.9 Ensembl ENCODE 0.4 +21.7 21703 2.4 GATAD2A PRDM10 RCOR2 REST CTCF CEBPA SOX13 CEBPB SP1 FOXA2 CRYBG3 RIOX2 ARL6 GABRR3 ENSG00000285614
GH03J098023 Enhancer 0.6 Ensembl 0.4 +12.1 12063 0.9 CTCF REST RAD21 TRIM22 YY1 RUNX3 BCLAF1 SMC3 ZBTB17 MBD1 CRYBG3 RIOX2 ARL6 GABRR3 ENSG00000285614
GH03J097981 Enhancer 0.9 FANTOM5 Ensembl ENCODE 0.2 +52.3 52328 3 SP1 CEBPB FOXA2 JUND STAT1 BATF BCL6 HNF4A RXRA JUN ARL6 RIOX2 OR5K3 OR5AC2 ENSG00000285614 GABRR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRR3

Top Transcription factor binding sites by QIAGEN in the GABRR3 gene promoter:
  • FOXC1
  • GATA-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU2F2
  • Spz1

Genomic Locations for GABRR3 Gene

Genomic Locations for GABRR3 Gene
chr3:97,986,673-98,035,304
(GRCh38/hg38)
Size:
48,632 bases
Orientation:
Minus strand
chr3:97,705,517-97,754,148
(GRCh37/hg19)
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 Asn220
  • 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for GABRR3 Gene

GenScript: Design optimal peptide antigens:
  • GABA(C) receptor (GBRR3_HUMAN)

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

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

Gene Ontology (GO) - Molecular Function for GABRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 GABA-A receptor activity NAS 10542332
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRR3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

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 --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GABRR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRR3 Gene

Pathways & Interactions for GABRR3 Gene

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

Gene Ontology (GO) - Biological Process for GABRR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma binder 3
Chlordiazepoxide Approved, Illicit, Investigational Pharma agonist 5
Clobazam Approved, Illicit Pharma antagonist 25
Clonazepam Approved, Illicit Pharma agonist 41
Clorazepate Approved, Illicit Pharma agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(??)-<i>cis</i>-2-CAMP
Agonist, Full agonist
THIP
Agonist, Full agonist, Antagonist
Alpha-hydroxyalprazolam
37115-43-8

(1) Tocris Compounds for GABRR3 Gene

Compound Action Cas Number
TPMPA Selective GABAA-rho antagonist 182485-36-5

(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 :
1 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRR3

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

No ASD Table

Relevant External Links for GABRR3 Gene

GeneLoc Exon Structure for
GABRR3

Expression for GABRR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRR3

SOURCE GeneReport for Unigene cluster for GABRR3 Gene:

Hs.534578

Evidence on tissue expression from TISSUES for GABRR3 Gene

  • Nervous system(3.4)
  • Blood(2.4)
  • Skin(2.3)
  • Eye(2.2)
  • Muscle(2.2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with GABRR3: view

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 30
  • 99.5 (n)
Cow
(Bos Taurus)
Mammalia GABRR3 30 31
  • 88.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrr3 30
  • 85.75 (n)
Mouse
(Mus musculus)
Mammalia Gabrr3 30 17 31
  • 84.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRR3 31
  • 72 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRR3 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GABRR3 30 31
  • 74.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRR3 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabrr3 30
  • 72.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabrr3a 30 31
  • 67.15 (n)
OneToMany
gabrr3b 31
  • 67 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13992 30
Species where no ortholog for GABRR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GABRR3: view image

Paralogs for GABRR3 Gene

Variants for GABRR3 Gene

Additional dbSNP identifiers (rs#s) for GABRR3 Gene

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

Additional Variant Information 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 , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for GABRR3 Gene

Disorders for GABRR3 Gene

MalaCards: The human disease database

(27) MalaCards diseases for GABRR3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
conjunctival vascular disease
  • conjunctival vascular abnormality
anterograde amnesia
  • amnesia, anterograde
essential tremor
  • tremor, hereditary essential, 1
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
gamma-amino butyric acid metabolism disorder
  • disorder of gamma-aminobutyric acid metabolism
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABRR3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GABRR3: view

No data available for 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 ME … Darlison MG (Biochimica et biophysica acta 1999) 2 3 4
  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 MC (Molecular psychiatry 2010) 3 41
  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) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4
  5. Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome. (PMID: 29720720) Jiménez-Jiménez FJ … García-Martín E (The pharmacogenomics journal 2018) 3

Products for GABRR3 Gene

Sources for GABRR3 Gene