Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of th... See more...

Aliases for GABRR2 Gene

Aliases for GABRR2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Rho2 2 3 5
  • Gamma-Aminobutyric Acid Receptor Subunit Rho-2 3 4
  • Gamma-Aminobutyric Acid Type A Receptor Rho2 Subunit 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 2 3
  • Gamma-Aminobutyric Acid (GABA) Receptor, Rho 2 2
  • GABA-C Receptor, Rho-2 Subunit 3
  • GABA(A) Receptor Subunit Rho-2 4
  • GABA(A) Receptor, Rho 2 2
  • GABA(C) Receptor 4
  • GABRR2 5

External Ids for GABRR2 Gene

Previous GeneCards Identifiers for GABRR2 Gene

  • GC06M089913
  • GC06M089962
  • GC06M090023
  • GC06M089967
  • GC06M087184

Summaries for GABRR2 Gene

Entrez Gene Summary for GABRR2 Gene

  • Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]

GeneCards Summary for GABRR2 Gene

GABRR2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Rho2) is a Protein Coding gene. Diseases associated with GABRR2 include Alcohol Dependence and Essential Tremor. 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 GABRR2 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. Rho-2 GABA receptor could play a role in retinal neurotransmission.

Tocris Summary for GABRR2 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 GABRR2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRR2 Gene

Genomics for GABRR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRR2 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
GH06J089316 Enhancer 0.2 Ensembl 613.4 -1.9 -1902 0.8 GABRR2 SRSF12 piR-39694-006 UBE2J1
GH06J089345 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -35.0 -34957 8.6 ZNF221 HNRNPL CREB1 ZBTB33 PRDM10 ZNF629 REST SOX13 KDM1A ZNF692 UBE2J1 CASP8AP2 SRSF12 RRAGD GABRR2 TUBB3P1 MDN1 PNRC1 ANKRD6 RNGTT
GH06J089310 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 14.1 +4.5 4498 6.4 CTCF IKZF1 REST ZNF341 TOE1 SCRT2 RAD21 RAD51 ZBTB48 ZBTB17 GABRR2 PM20D2 TUBB3P1 GABRR1
GH06J089281 Enhancer 0.9 Ensembl ENCODE 12.2 +33.2 33247 0.7 CTCF REST ZNF143 ZSCAN4 PKNOX1 RAD21 TRIM22 ZNF600 ZNF792 KLF9 GABRR2 UBE2J1 SRSF12 piR-52294-122 TUBB3P1 GABRR1
GH06J089242 Enhancer 0.8 Ensembl ENCODE 11 +72.0 72012 2.2 CTCF PRDM1 REST RAD21 ZNF512B RUNX3 SMC3 ZNF335 ZNF654 ZNF366 HSALNG0051859 SRSF12 TUBB3P1 GABRR2 PM20D2 ANKRD6 ENSG00000237027 GABRR1 HE856084
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRR2

Top Transcription factor binding sites by QIAGEN in the GABRR2 gene promoter:
  • AML1a
  • Cdc5
  • FOXC1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for GABRR2 Gene

Genomic Locations for GABRR2 Gene
chr6:89,254,464-89,315,299
(GRCh38/hg38)
Size:
60,836 bases
Orientation:
Minus strand
chr6:89,966,927-90,025,018
(GRCh37/hg19)
Size:
58,092 bases
Orientation:
Minus strand

Genomic View for GABRR2 Gene

Genes around GABRR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRR2 Gene

Proteins for GABRR2 Gene

  • Protein details for GABRR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28476-GBRR2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit rho-2
    Protein Accession:
    P28476
    Secondary Accessions:
    • A2BDE4
    • Q9H153

    Protein attributes for GABRR2 Gene

    Size:
    465 amino acids
    Molecular mass:
    54151 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By similarity).
    Miscellaneous:
    • [Isoform 2]: 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.

    Alternative splice isoforms for GABRR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRR2 Gene

Post-translational modifications for GABRR2 Gene

  • Glycosylation at Asn120 and Asn254
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRR2 Gene

No data available for DME Specific Peptides for GABRR2 Gene

Domains & Families for GABRR2 Gene

Gene Families for GABRR2 Gene

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

Protein Domains for GABRR2 Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A (GABAA) receptor rho subunit signature
  • Gamma-aminobutyric-acid A (GABAA) receptor rho 2 subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABRR2 Gene

GenScript: Design optimal peptide antigens:
  • GABA(C) receptor (GBRR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28476

UniProtKB/Swiss-Prot:

GBRR2_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR2 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. GABRR2 sub-subfamily.
genes like me logo Genes that share domains with GABRR2: view

Function for GABRR2 Gene

Molecular function for GABRR2 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. Rho-2 GABA receptor could play a role in retinal neurotransmission.
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 2,preferentially expressed in retina,subunit part of a trimeric receptor,mediating inhibitory neurotransmission

Phenotypes From GWAS Catalog for GABRR2 Gene

Gene Ontology (GO) - Molecular Function for GABRR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 contributes_to GABA-A receptor activity TAS,IBA 21873635
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 GABRR2: view
genes like me logo Genes that share phenotypes with GABRR2: view

Animal Models for GABRR2 Gene

MGI Knock Outs for GABRR2:
  • Gabrr2 Gabrr2<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRR2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GABRR2 Gene

Localization for GABRR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRR2 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 GABRR2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
nucleus 1
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for GABRR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
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 GABRR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRR2 Gene

Pathways & Interactions for GABRR2 Gene

genes like me logo Genes that share pathways with GABRR2: view

Pathways by source for GABRR2 Gene

Gene Ontology (GO) - Biological Process for GABRR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007268 chemical synaptic transmission TAS,IBA 21873635
genes like me logo Genes that share ontologies with GABRR2: view

No data available for SIGNOR curated interactions for GABRR2 Gene

Drugs & Compounds for GABRR2 Gene

(41) Drugs for GABRR2 Gene - From: DrugBank, 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 GABRR2 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 GABRR2 Gene

Compound Action Cas Number
TPMPA Selective GABAA-rho antagonist 182485-36-5
genes like me logo Genes that share compounds with GABRR2: view

Transcripts for GABRR2 Gene

mRNA/cDNA for GABRR2 Gene

1 REFSEQ mRNAs :
7 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 GABRR2

Alternative Splicing Database (ASD) splice patterns (SP) for GABRR2 Gene

No ASD Table

Relevant External Links for GABRR2 Gene

GeneLoc Exon Structure for
GABRR2

Expression for GABRR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRR2

SOURCE GeneReport for Unigene cluster for GABRR2 Gene:

Hs.719891

Evidence on tissue expression from TISSUES for GABRR2 Gene

  • Eye(4.5)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with GABRR2: view

No data available for mRNA differential expression in normal tissues , 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 GABRR2 Gene

Orthologs for GABRR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRR2 30 31
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRR2 30 31
  • 92.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRR2 30 31
  • 90.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrr2 30
  • 88.24 (n)
Mouse
(Mus musculus)
Mammalia Gabrr2 30 17 31
  • 88.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRR2 31
  • 87 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRR2 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GABRR2 30 31
  • 80.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRR2 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabrr2 30
  • 76.17 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabrr2a 31
  • 77 (a)
OneToMany
gabrr2b 30 31
  • 72 (n)
OneToMany
Dr.15556 30
Fruit Fly
(Drosophila melanogaster)
Insecta Rdl 32
  • 43 (a)
CG6927 32
  • 24 (a)
Worm
(Caenorhabditis elegans)
Secernentea gab-1 32
  • 51 (a)
F11H8.2 32
  • 35 (a)
C39B10.2 32
  • 35 (a)
Y46G5A.26 32
  • 35 (a)
W10G11.16 32
  • 33 (a)
T15B7.16 32
  • 32 (a)
Y71D11A.5 32
  • 31 (a)
gbr-6 32
  • 31 (a)
C53D6.3 32
  • 30 (a)
K10D6.1 32
  • 30 (a)
T27E9.9 32
  • 30 (a)
F09G2.5 32
  • 28 (a)
F58G6.4 32
  • 28 (a)
T20B12.9 32
  • 27 (a)
Y73F8A.2 32
  • 27 (a)
F55D10.5 32
  • 25 (a)
Species where no ortholog for GABRR2 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for GABRR2 Gene

ENSEMBL:
Gene Tree for GABRR2 (if available)
TreeFam:
Gene Tree for GABRR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRR2: view image

Paralogs for GABRR2 Gene

Variants for GABRR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRR2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
714316 Benign: not provided 89,299,793(-) G/A SYNONYMOUS_VARIANT
720650 Benign: not provided 89,264,508(-) G/A SYNONYMOUS_VARIANT
730202 Likely Benign: not provided 89,257,770(-) C/T MISSENSE_VARIANT
740854 Likely Benign: not provided 89,257,682(-) T/A SYNONYMOUS_VARIANT
746780 Likely Benign: not provided 89,265,686(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GABRR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABRR2 Gene

Variant ID Type Subtype PubMed ID
dgv3348n106 CNV tandem duplication 24896259
esv1009113 CNV deletion 20482838
esv2732408 CNV deletion 23290073
esv2732409 CNV deletion 23290073
esv3571285 CNV loss 25503493
esv3890901 CNV gain 25118596
esv995301 CNV deletion 20482838
nsv1027007 CNV gain 25217958
nsv1073995 CNV deletion 25765185
nsv1125253 CNV insertion 24896259
nsv1132947 CNV insertion 24896259
nsv521230 CNV loss 19592680
nsv526732 CNV loss 19592680
nsv527444 CNV loss 19592680

Variation tolerance for GABRR2 Gene

Residual Variation Intolerance Score: 87.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.66; 86.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRR2 Gene

Human Gene Mutation Database (HGMD)
GABRR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRR2 Gene

Disorders for GABRR2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GABRR2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alcohol dependence
  • alcoholism
essential tremor
  • tremor, hereditary essential, 1
rett syndrome
  • rtt
epilepsy
  • epilepsy syndrome
photosensitive epilepsy
  • photoparoxysmal response 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABRR2

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 GABRR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRR2 Gene

Publications for GABRR2 Gene

  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. (PMID: 1315307) Cutting GR … Uhl GR (Genomics 1992) 2 3 4
  2. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. (PMID: 20222955) Pattaro C … EUROSPAN consortium (BMC medical genetics 2010) 3 23
  3. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  4. 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
  5. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PMID: 20583128) Green EK … Craddock N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41

Products for GABRR2 Gene

Sources for GABRR2 Gene