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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GABRP Gene

protein-coding   GIFtS: 63
GCID: GC05P170143

Gamma-Aminobutyric Acid (GABA) A Receptor, Pi

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Pi1 2
GABA(A) Receptor Subunit Pi2 3
GABA(A) Receptor1
pi1
GABA(A) Receptor, Pi2
Gamma-Aminobutyric Acid Receptor Subunit Pi2

External Ids:    HGNC: 40891   Entrez Gene: 25682   Ensembl: ENSG000000947557   OMIM: 6027295   UniProtKB: O005913   

Export aliases for GABRP gene to outside databases

Previous GC identifers: GC05P170445 GC05P170913 GC05P170146 GC05P170191 GC05P165308


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. (provided by RefSeq, Jul 2008)

GeneCards Summary for GABRP Gene: 
GABRP (gamma-aminobutyric acid (GABA) A receptor, pi) is a protein-coding gene. Diseases associated with GABRP include schizoaffective disorder, and sporadic breast cancer, and among its related super-pathways are Morphine addiction and Class A/1 (Rhodopsin-like receptors). GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591
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

summary for GABRP Gene:
GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating
the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting
of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).
The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with
a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites
for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GABRP gene promoter:
         Max1   Sox5   RFX1   Evi-1   SRY   FOXJ2 (long isoform)   STAT3   FOXJ2   TGIF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRP promoter sequence
   Search SABiosciences Chromatin IP Primers for GABRP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.1   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q35.1

GABRP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRP gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P170143:  view genomic region     (about GC identifiers)

Start:
170,190,354 bp from pter      End:
170,241,051 bp from pter
Size:
50,698 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit pi precursor  
Size: 440 amino acids; 50640 Da
Subunit: 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
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
Secondary accessions: A8KA36 D3DQL2 Q32MJ1

Explore the universe of human proteins at neXtProt for GABRP: NX_O00591

Explore proteomics data for GABRP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00591

  • GABRP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GABRP Protein Expression
    REFSEQ proteins: NP_055026.1  
    ENSEMBL proteins: 
     ENSP00000428804   ENSP00000428103   ENSP00000429668   ENSP00000430188   ENSP00000430100  
     ENSP00000429815   ENSP00000430727   ENSP00000430772   ENSP00000265294  

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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0030054cell junction IEA--
    GO:0034707chloride channel complex IEA--

    GABRP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GABRA: Ligand-gated ion channels / GABA(A) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: &pi 
    GABAA receptors

    5/6 InterPro protein domains (see all 6):
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR008100 GABAAp_rcpt
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry O00591

    ProtoNet protein and cluster: O00591

    3 Blocks protein domains:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008100 Gamma-aminobutyric-acid A receptor pi subunit signature


    UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591
    Similarity: 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


    GABRP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBRP_HUMAN, O00591
    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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890GABA-A receptor activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity IEA--
    GO:0005254chloride channel activity IEA--
         
    GABRP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GABRP:
     Decreased POU5F1-GFP protein e 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gabrp):
     normal 

    GABRP for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GABRP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    2Class A/1 (Rhodopsin-like receptors)
    Neuroactive ligand-receptor interaction0.37
    3GABA A receptor activation
    GABA signaling in brain0.32
    4Nicotine addiction
    Nicotine addiction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GABRP
        GABA signaling in brain



    5         Kegg Pathways  (Kegg details for GABRP):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRP for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GABRP

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport ----

    GABRP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GABRP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for GABRP available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    MuscimolPotent GABAA agonist[2763-96-4]
    (-)-Bicuculline methiodideWater-soluble GABAA antagonist[40709-69-1]
    (-)-Bicuculline methochlorideWater-soluble GABAA antagonist[53552-05-9]
    SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

    2 HMDB Compounds for GABRP    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--

    10/22 DrugBank Compounds for GABRP (see all 22)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    Adinazolam-- 37115-32-5targetpotentiator6320036 6148400
    Chlordiazepoxide-- 58-25-3targetpotentiator18384456 11752090
    ClobazamAedon (see all 23)22316-47-8targetpotentiator18384456 11752090
    ClonazepamChlonazepam (see all 2)1622-61-3targetpotentiator18384456 11752090
    Clorazepate-- 23887-31-2targetpotentiator18384456 11752090
    Diazepam-- 439-14-5targetpotentiator18384456 11752090
    Estazolam-- 29975-16-4targetpotentiator639854 2889803
    Flurazepam-- 17617-23-1targetpotentiator18384456 11752090
    Halazepam-- 23092-17-3targetpotentiator2867566 6738302

    2 IUPHAR Ligands for GABRP (&pi)    About this table 
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blocker--
    picrotoxin
    Channel blockerNone--

    3 PharmGKB related drug/compound annotations for GABRP gene    About this table
    Drug/compound PharmGKB Annotation
    Selective serotonin reuptake inhibitorsCA  
    antidepressantsCA  
    venlafaxineCA  

    Search CenterWatch for drugs/clinical trials and news about GABRP / GBRP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GABRP gene: 
    NM_014211.2  

    Unigene Cluster for GABRP:

    Gamma-aminobutyric acid (GABA) A receptor, pi
    Hs.26225  [show with all ESTs]
    Unigene Representative Sequence: NM_014211
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521481 ENST00000521009 ENST00000519196 ENST00000522868 ENST00000518525
    ENST00000518122 ENST00000519385 ENST00000519598 ENST00000519137 ENST00000265294(uc003mau.3 uc011dev.2)

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    Additional mRNA sequence: 

    AK055205.1 AK292901.1 AK296805.1 AK300303.1 BC074810.2 BC074865.2 BC109105.1 BC109106.1 
    U95367.1 

    7 DOTS entries:

    DT.452502  DT.102831011  DT.120831620  DT.100034267  DT.102831012  DT.120831628  DT.75118728 

    24/96 AceView cDNA sequences (see all 96):

    BX509618 CA312543 BC074810 AI619885 AI521015 AW169065 AI560906 AU130953 
    AW439792 BC074865 AI912873 AI075074 CR599634 BU679207 AI446810 AW438575 
    AL708685 AI334802 CB047841 BQ310950 BE816712 AW510523 BI489618 BX642383 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GABRP    About this scheme

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


    ECgene alternative splicing isoforms for GABRP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GABRP expression in normal human tissues (normalized intensities)      GABRP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAGGAGCG
    GABRP Expression
    About this image


    GABRP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Duct Cells Pancreatic Ducts
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See GABRP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GABRP

    SOURCE GeneReport for Unigene cluster: Hs.26225

    UniProtKB/Swiss-Prot: GBRP_HUMAN, O00591
    Tissue specificity: Most abundant in the uterus, also expressed in lung, thymus and prostate

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GABRP gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrp1 , 5 gamma-aminobutyric acid (GABA) A receptor, pi1, 5 88.86(n)1
    92.73(a)1
      11 (19.21 cM)5
    2166431  NM_146017.31  NP_666129.11 
     335507815 
    chicken
    (Gallus gallus)
    Aves GABRP1 gamma-aminobutyric acid (GABA) A receptor, pi 75.18(n)
    78.92(a)
      416174  XM_414507.3  XP_414507.2 
    lizard
    (Anolis carolinensis)
    Reptilia GABRP6
    Uncharacterized protein
    68(a)
    1 ↔ 1
    1(129874726-129898137)
    zebrafish
    (Danio rerio)
    Actinopterygii gabrp1 gamma-aminobutyric acid (GABA) A receptor, pi 60.46(n)
    60.05(a)
      566633  XM_002664433.1  XP_002664479.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GABRP gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRB12  GABRD2  GLRA42  GABRB32  
    GABRB22  GABRQ2  GLRA32  GABRR22  
    18/24 SIMAP similar genes for GABRP using alignment to 8 protein entries:     GBRP_HUMAN (see all proteins) (see all similar genes):
    GABRB3    GABRD    GLRA3    GABRR1    GABRR2    GLRA4
    GABRB1    GABRR3    DKFZp781L0846    GABRB2    GLRA1    GABRA5
    GABRA3    GABRA2    GABRQ    GLRA2    GABRG2    GABRA6

    GABRP for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GABRP
    PGOHUM00000239731


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/842 SNPs in GABRP are shown (see all 842)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360344
    A breast cancer sample4--see VAR_0360342 H R mis40--------
    rs1398002511,2
    C,Funtested1170235729(+) CTCTCG/AATTCA 2 /N /D mis11Minor allele frequency- A:0.00NA 4550
    rs1828278321,2
    --170208753(+) CCCCTC/TCCAGG 1 -- us2k10--------
    rs1856583001,2
    --170208835(+) GAGATA/GAGACG 1 -- us2k10--------
    rs77164701,2
    C,F,A--170208839(+) TAAGAT/CGCCTT 1 -- us2k114Minor allele frequency- C:0.32NA EA WA CSA 732
    rs1465696201,2
    --170208851(+) TCATAC/TCTACT 1 -- us2k10--------
    rs1900750021,2
    --170208895(+) GGGTAA/GTCAGT 1 -- us2k10--------
    rs1412227991,2
    C--170208964(+) AAATAA/CTAACA 1 -- us2k10--------
    rs339509351,2
    C--170208995(+) ACAGG-/GATA  
            
    ATAGA
    1 -- us2k10--------
    rs582259591,2
    C--170208996(+) ATAGATAGA/-  
            
    CAGAT
    1 -- us2k11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for GABRP (170190354 - 170241051 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GABRP:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731083CNV Deletion23290073
    esv2731085CNV Deletion23290073
    nsv327390CNV Insertion16902084

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602729    OMIM disorders: --

    10 diseases for GABRP:    About MalaCards
    schizoaffective disorder    sporadic breast cancer    anorexia nervosa    bipolar disorder
    schizophrenia    breast cancer    neuronitis    adenocarcinoma
    pancreatitis    prostatitis


    GABRP for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABRP
    Human Genome Epidemiology (HuGE) Navigator: GABRP (8 documents)

    Export disorders for GABRP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GABRP gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with GABRP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel class of GABAA receptor subunit in tissues of the reproductive system. (PubMed id 9182563)1, 2, 3 Hedblom E. and Kirkness E.F. (1997)
    2. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PubMed id 20583128)1, 4 Green E.K....Craddock N. (2010)
    3. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    4. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    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. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)
    6. Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)1, 4 Craddock N....O'Donovan M.C. (2008)
    7. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PubMed id 16172613)1, 4 Petryshen T.L....Sklar P. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Genome-wide association studies of pit-and-fissure- an d smooth-surface caries in permanent dentition. (PubMed id 23470693)1 Zeng Z....Marazita M.L. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2568 HGNC: 4089 AceView: GABRP Ensembl:ENSG00000094755 euGenes: HUgn2568
    ECgene: GABRP Kegg: 2568 H-InvDB: GABRP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GABRP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GABRP Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GABRP gene:
    Search GeneIP for patents involving GABRP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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