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Aliases for GABRP Gene

Aliases for GABRP Gene

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

External Ids for GABRP Gene

Previous GeneCards Identifiers for GABRP Gene

  • GC05P170445
  • GC05P170913
  • GC05P170146
  • GC05P170191
  • GC05P170143
  • GC05P165308

Summaries for GABRP Gene

Entrez Gene Summary for GABRP Gene

  • The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for GABRP Gene

GABRP (Gamma-Aminobutyric Acid Type A Receptor Pi Subunit) is a Protein Coding gene. Among its related pathways are GABAergic synapse and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB3.

UniProtKB/Swiss-Prot for GABRP 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. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.

Tocris Summary for GABRP Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRP Gene

Additional gene information for GABRP Gene

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

Genomics for GABRP Gene

GeneHancer (GH) Regulatory Elements for GABRP Gene

Promoters and enhancers for GABRP 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
GH05I170783 Promoter 0.6 EPDnew 550.3 +20.4 20356 0.1 ZIC2 GABRP ENSG00000253348 GC05P170775
GH05I170743 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 61.2 -17.1 -17115 4.6 PKNOX1 RB1 ARNT KLF17 ZNF2 ZNF48 RAD21 ZNF335 GLIS2 ZNF213 GABRP ENSG00000253348 LOC105377716
GH05I170749 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 40.9 -12.2 -12169 4 NCOA3 PKNOX1 KLF1 USF1 NFIB POLR2A RCOR1 FOS FOSL2 CHD2 GABRP ENSG00000253348 RPL10P8 LOC105377716
GH05I170861 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 14.1 +99.2 99192 2.3 SIN3A ZNF76 YBX1 ZBTB7B ZNF335 ZNF143 RCOR1 EGR2 SMARCA5 SP3 RANBP17 GABRP LOC100419059 RN7SL623P
GH05I170329 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14 -429.6 -429574 8.1 HDGF PKNOX1 SMAD1 ARNT YBX1 FEZF1 IRF4 E2F8 FOS MCM3 LCP2 KCNMB1 LINC01366 GABRP CTD-2270F17.1 C5orf58 KCNIP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GABRP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABRP gene promoter:

Genomic Locations for GABRP Gene

Genomic Locations for GABRP Gene
chr5:170,763,350-170,814,047
(GRCh38/hg38)
Size:
50,698 bases
Orientation:
Plus strand
chr5:170,190,354-170,241,051
(GRCh37/hg19)

Genomic View for GABRP Gene

Genes around GABRP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GABRP Gene

Proteins for GABRP Gene

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

    Protein Symbol:
    O00591-GBRP_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit pi
    Protein Accession:
    O00591
    Secondary Accessions:
    • A8KA36
    • D3DQL2
    • Q32MJ1

    Protein attributes for GABRP Gene

    Size:
    440 amino acids
    Molecular mass:
    50640 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex.

neXtProt entry for GABRP Gene

Post-translational modifications for GABRP Gene

  • Glycosylation at isoforms=43, isoforms=102, isoforms=145, posLast=196196, and isoforms=228

No data available for DME Specific Peptides for GABRP Gene

Domains & Families for GABRP Gene

Gene Families for GABRP Gene

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

Graphical View of Domain Structure for InterPro Entry

O00591

UniProtKB/Swiss-Prot:

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

Function for GABRP Gene

Molecular function for GABRP 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. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.

Phenotypes From GWAS Catalog for GABRP Gene

Gene Ontology (GO) - Molecular Function for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA --
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 GABRP: view
genes like me logo Genes that share phenotypes with GABRP: view

Animal Models for GABRP Gene

MGI Knock Outs for GABRP:

miRNA for GABRP Gene

miRTarBase miRNAs that target GABRP

Clone Products

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

Localization for GABRP Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRP 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 GABRP gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with GABRP: view

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

Pathways & Interactions for GABRP Gene

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

Gene Ontology (GO) - Biological Process for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IEA --
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with GABRP: view

No data available for SIGNOR curated interactions for GABRP Gene

Drugs & Compounds for GABRP Gene

(67) Drugs for GABRP Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma Target, potentiator, agonist 0
Bromazepam Approved, Illicit, Investigational Pharma Target, potentiator, binder 2
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, agonist 5
Cinolazepam Approved Pharma Target, potentiator, binder 0
Clobazam Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 22

(2) Additional Compounds for GABRP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(4) Tocris Compounds for GABRP Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
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 GABRP: view

Transcripts for GABRP Gene

Unigene Clusters for GABRP Gene

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

Clone Products

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1:
SP2:
SP3: -

Relevant External Links for GABRP Gene

GeneLoc Exon Structure for
GABRP
ECgene alternative splicing isoforms for
GABRP

Expression for GABRP Gene

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

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

This gene is overexpressed in Breast - Mammary Tissue (x13.8), Esophagus - Mucosa (x9.4), Minor Salivary Gland (x7.1), Vagina (x5.6), and Skin - Sun Exposed (Lower leg) (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of GABRP Gene:

GABRP

SOURCE GeneReport for Unigene cluster for GABRP Gene:

Hs.26225

mRNA Expression by UniProt/SwissProt for GABRP Gene:

O00591-GBRP_HUMAN
Tissue specificity: Most abundant in the uterus, also expressed in lung, thymus and prostate.

Evidence on tissue expression from TISSUES for GABRP Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with GABRP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRP Gene

Orthologs for GABRP Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRP 33 34
  • 99.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GABRP 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRP 33 34
  • 91.44 (n)
cow
(Bos Taurus)
Mammalia GABRP 33 34
  • 91.14 (n)
rat
(Rattus norvegicus)
Mammalia Gabrp 33
  • 89.02 (n)
mouse
(Mus musculus)
Mammalia Gabrp 33 16 34
  • 88.86 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRP 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRP 33 34
  • 75.52 (n)
lizard
(Anolis carolinensis)
Reptilia GABRP 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrp 33
  • 63.52 (n)
zebrafish
(Danio rerio)
Actinopterygii gabrp 33 34
  • 60.78 (n)
worm
(Caenorhabditis elegans)
Secernentea T24D8.1 35
  • 28 (a)
gbr-4 35
  • 27 (a)
K10D6.1 35
  • 25 (a)
Species where no ortholog for GABRP 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)
  • 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 GABRP Gene

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

Paralogs for GABRP Gene

Pseudogenes.org Pseudogenes for GABRP Gene

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

Variants for GABRP Gene

Sequence variations from dbSNP and Humsavar for GABRP Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
VAR_036034 A breast cancer sample p.His416Arg
rs886042237 uncertain-significance, not specified 170,805,780(+) GG/G coding_sequence_variant, frameshift
rs1000015141 -- 170,802,672(+) A/T intron_variant
rs1000195492 -- 170,806,402(+) A/G intron_variant
rs1000240872 -- 170,812,636(+) T/A 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv2731083 CNV deletion 23290073
esv2731085 CNV deletion 23290073
nsv327390 CNV insertion 16902084
nsv600262 CNV gain 21841781

Variation tolerance for GABRP Gene

Residual Variation Intolerance Score: 65.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.21; 88.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRP Gene

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

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

Disorders for GABRP Gene

Additional Disease Information for GABRP

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

No disorders were found for GABRP Gene.

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

Publications for GABRP Gene

  1. A novel class of GABAA receptor subunit in tissues of the reproductive system. (PMID: 9182563) Hedblom E … Kirkness EF (The Journal of biological chemistry 1997) 2 3 4 58
  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 44 58
  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 44 58
  4. 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 44 58
  5. 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 44 58

Products for GABRP Gene

Sources for GABRP Gene

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