Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RGS9BP Gene

protein-coding   GIFtS: 49
GCID: GC19P033166

Regulator Of G Protein Signaling 9 Binding Protein

(Previous name: regulator of G protein signalling 9 binding protein)
  See RGS9BP-related disease
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

TryGeneCards Plus

Aliases
Regulator Of G Protein Signaling 9 Binding Protein1 2     RGS92 5
R9AP2 3 5     Regulator Of G Protein Signalling 9 Binding Protein1
RGS9-Anchoring Protein2 3     Regulator Of G-Protein Signaling 9-Binding Protein2
PERRS2 5     RGS9 Anchor Protein2

External Ids:    HGNC: 303041   Entrez Gene: 3885312   Ensembl: ENSG000001863267   OMIM: 6078145   UniProtKB: Q6ZS823   

Export aliases for RGS9BP gene to outside databases

Previous GC identifers: GC19P037862 GC19P029669


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

TryGeneCards Plus

Entrez Gene summary for RGS9BP Gene:
The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in
phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is
localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex,
specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane
anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged
electroretinal response suppression (PERRS), also known as bradyopsia. (provided by RefSeq, Mar 2010)

GeneCards Summary for RGS9BP Gene:
RGS9BP (regulator of G protein signaling 9 binding protein) is a protein-coding gene. Diseases associated with RGS9BP include bradyopsia.

UniProtKB/Swiss-Prot: R9BP_HUMAN, Q6ZS82
Function: Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the
recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that
mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place.
Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be
terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by
protecting it from degradation (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RGS9BP gene promoter:
         Spz1   AML1a   Sp1   p300   HNF-4alpha2   HNF-4alpha1   AREB6   Pax-3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRGS9BP promoter sequence
   Search Chromatin IP Primers for RGS9BP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RGS9BP


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

Entrez Gene cytogenetic band: 19q13.11   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.11

RGS9BP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RGS9BP gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P033166:  view genomic region     (about GC identifiers)

Start:
33,166,313 bp from pter      End:
33,169,206 bp from pter
Size:
2,894 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: R9BP_HUMAN, Q6ZS82 (See protein sequence)
Recommended Name: Regulator of G-protein signaling 9-binding protein  
Size: 235 amino acids; 25148 Da
Subunit: Specifically interacts with isoform RGS9-1 of RGS9. Component of the RGS9-1-Gbeta5 complex composed of
RGS9-1, Gbeta5 (GNB5) and RGS9BP (By similarity)
Secondary accessions: Q6ZVJ6

Explore the universe of human proteins at neXtProt for RGS9BP: NX_Q6ZS82

Explore proteomics data for RGS9BP at MOPED


See RGS9BP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_997274.2  
ENSEMBL proteins: 
 ENSP00000334134  
Reactome Protein details: Q6ZS82

RGS9BP Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
Browse OriGene Protein Over-expression Lysates
OriGene Custom MassSpec
OriGene Custom Protein Services for RGS9BP
GenScript Custom Purified and Recombinant Proteins Services for RGS9BP
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for RGS9BP

 
Search eBioscience for Proteins for RGS9BP 

 
antibodies-online proteins for RGS9BP (2 products) 

 
antibodies-online peptides for RGS9BP

RGS9BP Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for RGS9BP
Novus Biologicals RGS9BP Antibodies
Abcam antibodies for RGS9BP
Cloud-Clone Corp. Antibodies for RGS9BP
ThermoFisher Antibodies for RGS9BP
antibodies-online antibodies for RGS9BP (2 products) 

RGS9BP Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for RGS9BP
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for RGS9BP
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for RGS9BP
Cloud-Clone Corp. CLIAs for RGS9BP
Search eBioscience for ELISAs for RGS9BP 
antibodies-online kits for RGS9BP (8 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
2 InterPro protein domains:
 IPR026513 RGS9BP
 IPR026512 RGS7BP/RGS9BP

Graphical View of Domain Structure for InterPro Entry Q6ZS82

ProtoNet protein and cluster: Q6ZS82

UniProtKB/Swiss-Prot: R9BP_HUMAN, Q6ZS82
Similarity: Belongs to the RGS7BP/RGS9BP family


Find genes that share domains with RGS9BP           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

     UniProtKB/Swiss-Prot Summary: R9BP_HUMAN, Q6ZS82
Function: Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the
recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that
mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place.
Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be
terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by
protecting it from degradation (By similarity)

Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rgs9bp):

 vision/eye 

Find genes that share phenotypes with RGS9BP           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for RGS9BP

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat RGS9BP using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate RGS9BP (see all 15):
hsa-miR-3130-5p hsa-miR-3173-3p hsa-miR-320a hsa-miR-148b* hsa-miR-193a-3p hsa-miR-601 hsa-miR-320d hsa-miR-4290
SwitchGear 3'UTR luciferase reporter plasmidRGS9BP 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for RGS9BP
Predesigned siRNA for gene silencing in human, mouse, rat RGS9BP

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for RGS9BP

Clone
Products:
     
OriGene clones in human, mouse for RGS9BP (see all 5)
OriGene ORF clones in mouse, rat for RGS9BP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: RGS9BP (NM_207391)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RGS9BP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RGS9BP

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for RGS9BP
Browse ESI BIO Cell Lines and PureStem Progenitors for RGS9BP 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RGS9BP


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
R9BP_HUMAN, Q6ZS82: Membrane; Single-pass type IV membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with RGS9BP           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

SuperPaths for RGS9BP About    
See pathways by source

SuperPathContained pathways About
1The phototransduction cascade
The phototransduction cascade0.51
Inactivation, recovery and regulation of the phototransduction cascade0.49
Visual signal transduction- Rods0.51
Visual signal transduction- Cones0.39
2Diseases associated with visual transduction
Visual phototransduction0.44
Diseases associated with visual transduction0.43
3Signaling by GPCR
Signal Transduction0.58
4Disease
Disease


Find genes that share SuperPaths with RGS9BP           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RGS9BP
    cAMP Pathway
Visual Cycle in Retinal Rods
G-AlphaI Signaling
G-AlphaQ Signaling

2 BioSystems Pathways for RGS9BP
    Visual signal transduction- Cones
Visual signal transduction- Rods

1 Reactome Pathway for RGS9BP
    Inactivation, recovery and regulation of the phototransduction cascade


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RGS9BP
Interactions:

    Search GeneGlobe Interaction Network for RGS9BP

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

Selected Interacting proteins for RGS9BP (ENSP000003341344) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
GNAT1ENSP000002324614STRING: ENSP00000232461
GNAT2ENSP000002513374STRING: ENSP00000251337
GNB5ENSP000002618374STRING: ENSP00000261837
PDE6AENSP000002552664STRING: ENSP00000255266
PDE6BENSP000004202954STRING: ENSP00000420295
About this table

Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007603phototransduction, visible light TAS--
GO:0009968negative regulation of signal transduction IEA--
GO:0016056rhodopsin mediated signaling pathway TAS--
GO:0022400regulation of rhodopsin mediated signaling pathway TAS--
GO:0050908detection of light stimulus involved in visual perception IEA--

Find genes that share ontologies with RGS9BP           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RGS9BP (R9BP)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for RGS9BP gene: 
NM_207391.2  

Unigene Cluster for RGS9BP:

Regulator of G protein signaling 9 binding protein
Hs.528491  [show with all ESTs]
Unigene Representative Sequence: AK124499
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000334176(uc002ntp.1)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat RGS9BP using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate RGS9BP (see all 15):
hsa-miR-3130-5p hsa-miR-3173-3p hsa-miR-320a hsa-miR-148b* hsa-miR-193a-3p hsa-miR-601 hsa-miR-320d hsa-miR-4290
SwitchGear 3'UTR luciferase reporter plasmidRGS9BP 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for RGS9BP
Predesigned siRNA for gene silencing in human, mouse, rat RGS9BP
Clone
Products:
     
OriGene clones in human, mouse for RGS9BP (see all 5)
OriGene ORF clones in mouse, rat for RGS9BP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: RGS9BP (NM_207391)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RGS9BP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RGS9BP
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for RGS9BP
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RGS9BP
  QuantiTect SYBR Green Assays in human, mouse, rat RGS9BP
  QuantiFast Probe-based Assays in human, mouse, rat RGS9BP

Additional mRNA sequence: 

AF086461.1 AK124499.1 AK127646.1 

1 DOTS entry:

DT.97819355 

15 AceView cDNA sequences:

AK127646 AW302149 BM673230 CF145408 BX645932 BQ187216 BM710194 BM707056 
CF145448 BM671616 AF086461 BX116028 AI375213 W81663 BM562937 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

RGS9BP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCTCCCACT
RGS9BP Expression
About this image


RGS9BP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Neurons
         nGnG Amacrine Cells Inner Nuclear Layer
 
 Neural Ectoderm (Nervous System)
         Neural ectoderm cells
 
 Eye (Sensory Organs)
         nGnG Amacrine Cells Inner Nuclear Layer
RGS9BP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RGS9BP Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.528491
    Custom PCR Arrays for RGS9BP
Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for RGS9BP
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RGS9BP
QuantiTect SYBR Green Assays in human, mouse, rat RGS9BP
QuantiFast Probe-based Assays in human, mouse, rat RGS9BP
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RGS9BP

(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

TryGeneCards Plus

This gene was present in the common ancestor of chordates.

Orthologs for RGS9BP gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rgs9bp1 , 5 regulator of G-protein signalling 9 binding protein1, 5 82.03(n)1
83.41(a)1
  7 (21.37 cM)5
2439231  NM_145840.31  NP_665839.11 
 355789985 
chicken
(Gallus gallus)
Aves RGS9BP1 regulator of G protein signaling 9 binding protein 66.97(n)
60.09(a)
  395170  NM_204505.1  NP_989836.1 
lizard
(Anolis carolinensis)
Reptilia RGS9BP6
regulator of G protein signaling 9 binding protein...
63(a)
1 ↔ 1
GL343483.1(178106-178819)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004915441 regulator of G-protein signaling 9-binding protein more 59.94(n)
58.26(a)
  100491544  XM_004913554.1  XP_004913611.1 
zebrafish
(Danio rerio)
Actinopterygii LOC5592321 regulator of G-protein signaling 9-binding protein-like 63.59(n)
53.92(a)
  559232  XM_005169918.1  XP_005169975.1 


ENSEMBL Gene Tree for RGS9BP (if available)
TreeFam Gene Tree for RGS9BP (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for RGS9BP (see all 134)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs114532531,2
C--33169173(+) CCCCC-/C/CG  
        
CCACT
2 -- ut31 trp31NA 2
rs1140910631,2
F--33321998(+) CTCAAA/GGGATT 1 -- us2k11Minor allele frequency- G:0.04WA 118
rs1381183181,2
--33322057(+) CAGGAC/TCTGGC 1 -- us2k10--------
rs2002908311,2
C--33322154(+) TTCCA-/CCCATT 1 -- us2k10--------
rs1496468321,2
--33322204(+) GTAGCC/GTGTGG 1 -- us2k10--------
rs1473173061,2
--33322210(+) TGTGGA/GTGGCT 1 -- us2k10--------
rs713511861,2
C--33322226(+) CCCCCC/TTTCCA 1 -- us2k14Minor allele frequency- T:0.09NA EA 244
rs1145560761,2
C,F--33322325(+) CAGCAG/CGCCCC 1 -- us2k11Minor allele frequency- C:0.03WA 118
rs2592851,2
C,F,A,H--33322340(-) GGTGTA/GCTGAG 1 -- us2k114Minor allele frequency- G:0.47NS EA NA WA CSA 786
rs1889761721,2
--33322369(+) AACACC/TAGTCC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for RGS9BP (33166313 - 33169206 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for RGS9BP:    About this table    
Variant IDTypeSubtypePubMed ID
dgv3838n71CNV Loss21882294

Human Gene Mutation Database (HGMD): RGS9BP
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing RGS9BP
DNA2.0 Custom Variant and Variant Library Synthesis for RGS9BP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus
OMIM gene information: 607814   
OMIM disorders: 608415  
UniProtKB/Swiss-Prot: R9BP_HUMAN, Q6ZS82
  • Prolonged electroretinal response suppression (PERRS) [MIM:608415]: Characterized by difficulty adjusting
    to sudden changes in luminance levels mediated by cones. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 1 disease for RGS9BP:    
    About MalaCards
    bradyopsia


    Find genes that share disorders with RGS9BP           About GenesLikeMe

    Genetic Association Database (GAD): RGS9BP
    Human Genome Epidemiology (HuGE) Navigator: RGS9BP (1 document)

    Export disorders for RGS9BP 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

    TryGeneCards Plus

    PubMed articles for RGS9BP gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with RGS9BP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    2. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. (PubMed id 14702087)1, 2 Nishiguchi K.M.... Dryja T.P. (Nature 2004)
    3. R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1. (PubMed id 12119397)1, 3 Hu G. and Wensel T.G. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1, 3 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
    5. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PubMed id 23377640)1 (Am J Psychiatry 2013)
    6. Type 5 G protein beta subunit (Gbeta5) controls the interaction of regulator of G protein signaling 9 (RGS9) with membrane anchors. (PubMed id 21511947)1 Masuho I....Martemyanov K.A. (J. Biol. Chem. 2011)
    7. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). (PubMed id 19818506)1 Michaelides M....Webster A.R. (Ophthalmology 2010)
    8. The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels. (PubMed id 18318613)1 Stockman A....Sharpe L.T. (J Vis 2008)
    9. Bradyopsia in an Asian man. (PubMed id 17698770)1 Cheng J.Y....Vithana E.N. (Arch. Ophthalmol. 2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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

    TryGeneCards Plus
    Entrez Gene: 388531 HGNC: 30304 AceView: FLJ45744 Ensembl:ENSG00000186326 euGenes: HUgn388531
    ECgene: RGS9BP H-InvDB: RGS9BP

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for RGS9BP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for RGS9BP gene:
    Search GeneIP for patents involving RGS9BP

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for RGS9BP  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RGS9BP  
     OriGene qSTAR qPCR primer pairs in human, mouse for RGS9BP   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for RGS9BP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RGS9BP   OriGene Custom Protein Services for RGS9BP  

     
     
     Block miRNA regulation of human, mouse, rat RGS9BP using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RGS9BP
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RGS9BP Predesigned siRNA for gene silencing in human, mouse, rat RGS9BP
     QuantiFast Probe-based Assays in human, mouse, rat RGS9BP QuantiTect SYBR Green Assays in human, mouse, rat RGS9BP
     Custom PCR Arrays for RGS9BP Search Chromatin IP Primers for RGS9BP
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RGS9BP  Search GeneGlobe Interaction Network for RGS9BP
     Regulatory tfbs in RGS9BP promoter
     GenScript Custom Purified and Recombinant Proteins Services for RGS9BP GenScript cDNA clones with any tag delivered in your preferred vector for RGS9BP
     GenScript Custom Assay Services for RGS9BP GenScript Custom overexpressing Cell Line Services for RGS9BP
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for RGS9BP (R9BP)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RGS9BP antibodies
     Antibodies for RGS9BP
     See all of Abcam's Antibodies, Kits and Proteins for RGS9BP
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for RGS9BP
     Antibodies for RGS9BP
     ELISAs for RGS9BP
     CLIAs for RGS9BP



     Browse ESI BIO Cell Lines and PureStem Progenitors for RGS9BP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RGS9BP
     SwitchGear 3'UTR luciferase reporter plasmids for RGS9BP
     SwitchGear Promoter luciferase reporter plasmids for RGS9BP
     ThermoFisher Antibodies for RGS9BP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RGS9BP
     Browse compounds at ApexBio
     Search Addgene for plasmids for RGS9BP
      Search eBioscience for proteins for RGS9BP
      Search eBioscience for elisas for RGS9BP
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for RGS9BP
     antibodies-online antibodies for RGS9BP (2 products)
     antibodies-online kits for RGS9BP (8 products)
     antibodies-online peptides for RGS9BP
     antibodies-online proteins for RGS9BP (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RGS9BP gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4