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Aliases for GABRR2 Gene

Aliases for GABRR2 Gene

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

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 Rho2 Subunit) is a Protein Coding gene. Diseases associated with GABRR2 include Alcohol Dependence and Retinitis Pigmentosa. Among its related pathways are Peptide ligand-binding receptors and Circadian entrainment. 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 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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRR2 Gene

Genomics for GABRR2 Gene

Regulatory Elements for GABRR2 Gene

Enhancers for GABRR2 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around GABRR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRR2 Gene

Chromosome:
6
Start:
89,256,061 bp from pter
End:
89,315,299 bp from pter
Size:
59,239 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).

    Alternative splice isoforms for GABRR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRR2 Gene

Post-translational modifications for GABRR2 Gene

  • Glycosylation at Asn 120 and Asn 254
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRR2 Gene

Domains & Families for GABRR2 Gene

Gene Families for GABRR2 Gene

Suggested Antigen Peptide Sequences for GABRR2 Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 2,preferentially expressed in retina,subunit part of a trimeric receptor,mediating inhibitory neurotransmission
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.

Gene Ontology (GO) - Molecular Function for GABRR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
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 GABRR2: view

Phenotypes for GABRR2 Gene

GenomeRNAi human phenotypes for GABRR2:
genes like me logo Genes that share phenotypes with GABRR2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for GABRR2 Gene COMPARTMENTS Subcellular localization image for GABRR2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

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 1315307
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with GABRR2: view

Pathways & Interactions for GABRR2 Gene

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

Gene Ontology (GO) - Biological Process for GABRR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 1315307
GO:0007165 signal transduction TAS 1315307
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007268 chemical synaptic transmission TAS 1315307
GO:0007601 visual perception IEA --
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

(42) Drugs for GABRR2 Gene - From: DrugBank, 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 GABRR2 Gene - From: IUPHAR and HMDB

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

Transcripts for GABRR2 Gene

mRNA/cDNA for GABRR2 Gene

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

Unigene Clusters for GABRR2 Gene

Gamma-aminobutyric acid (GABA) A receptor, rho 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GABRR2 Gene

GeneLoc Exon Structure for
GABRR2
ECgene alternative splicing isoforms for
GABRR2

Expression for GABRR2 Gene

mRNA expression in normal human tissues for GABRR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of GABRR2 Gene:

GABRR2

SOURCE GeneReport for Unigene cluster for GABRR2 Gene:

Hs.719891
genes like me logo Genes that share expression patterns with GABRR2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GABRR2 34
  • 90.75 (n)
  • 93.55 (a)
GABRR2 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRR2 34
  • 92.76 (n)
  • 95.27 (a)
GABRR2 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrr2 34
  • 88.17 (n)
  • 90.11 (a)
Gabrr2 16
Gabrr2 35
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRR2 34
  • 99.28 (n)
  • 99.57 (a)
GABRR2 35
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrr2 34
  • 88.24 (n)
  • 91.18 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRR2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRR2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRR2 34
  • 80.89 (n)
  • 86.85 (a)
GABRR2 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRR2 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrr2 34
  • 76.17 (n)
  • 84.02 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.15556 34
gabrr2b 34
  • 72 (n)
  • 75.33 (a)
gabrr2a 35
  • 77 (a)
OneToMany
gabrr2b 35
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6927 36
  • 24 (a)
Rdl 36
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea C39B10.2 36
  • 35 (a)
C53D6.3 36
  • 30 (a)
F09G2.5 36
  • 28 (a)
F11H8.2 36
  • 35 (a)
F55D10.5 36
  • 25 (a)
F58G6.4 36
  • 28 (a)
gab-1 36
  • 51 (a)
gbr-6 36
  • 31 (a)
K10D6.1 36
  • 30 (a)
T15B7.16 36
  • 32 (a)
T20B12.9 36
  • 27 (a)
T27E9.9 36
  • 30 (a)
W10G11.16 36
  • 33 (a)
Y46G5A.26 36
  • 35 (a)
Y71D11A.5 36
  • 31 (a)
Y73F8A.2 36
  • 27 (a)
Species where no ortholog for GABRR2 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)
  • 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 squirt (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)

Paralogs for GABRR2 Gene

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

Variants for GABRR2 Gene

Sequence variations from dbSNP and Humsavar for GABRR2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs912976 -- 89,272,725(-) GGTCA(C/G)AACGT intron-variant, upstream-variant-2KB
rs912978 -- 89,297,917(+) TGTAC(C/G)CCTCT intron-variant
rs912979 -- 89,297,962(+) GCTTC(C/T)TGCTT intron-variant
rs958854 -- 89,264,347(+) CCTGG(C/T)CCAGA intron-variant
rs964626 -- 89,289,577(-) TCTCC(A/G)CATGA intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
alcohol dependence
  • alcohol dependence, protection against
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRR2

Genetic Association Database (GAD)
GABRR2
Human Genome Epidemiology (HuGE) Navigator
GABRR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRR2
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 G.R. … Uhl G.R. (Genomics 1992) 2 3 4 65
  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 65
  3. GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence. (PMID: 19536785) Xuei X. … Edenberg H.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 65
  4. 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. … Pramstaller P.P. (BMC Med. Genet. 2010) 3 22 65
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro A.P. … Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 65

Products for GABRR2 Gene

Sources for GABRR2 Gene

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