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... See more...

Aliases for RGS9BP Gene

Aliases for RGS9BP Gene

  • Regulator Of G Protein Signaling 9 Binding Protein 2 3 5
  • R9AP 2 3 4
  • Regulator Of G-Protein Signaling 9-Binding Protein 3 4
  • RGS9-Anchoring Protein 3 4
  • PERRS 2 3
  • Regulator Of G Protein Signalling 9 Binding Protein 2
  • Regulator Of G-Protein Signaling 9 Binding Protein 2
  • RGS9 Anchor Protein 3
  • FLJ45744 2
  • RGS9BP 5
  • RGS9 3

External Ids for RGS9BP Gene

Previous GeneCards Identifiers for RGS9BP Gene

  • GC19P037862
  • GC19P033166
  • GC19P029669

Summaries for RGS9BP Gene

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 Prolonged Electroretinal Response Suppression and Abnormal Threshold Of Rods. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. An important paralog of this gene is RGS7BP.

UniProtKB/Swiss-Prot Summary for RGS9BP Gene

  • 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RGS9BP Gene

Genomics for RGS9BP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RGS9BP 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
GH19J032674 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 610.6 -0.1 -145 4.6 ZNF221 SP1 HNRNPL CREB1 TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 FOS ANKRD27 RGS9BP piR-36176 GPATCH1 ZNF507 CEP89 PDCD5 FAAP24 SLC7A9 ENSG00000267557
GH19J032868 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 9.9 +194.2 194152 2.8 REST ZIC2 RBFOX2 SP1 SCRT2 SOX13 TAF1 ZKSCAN8 FOXA2 YY1 SLC7A9 NUDT19 FAAP24 RGS9BP ANKRD27 CHST8 RF00100-056 RN7SKP22 lnc-CEP89-3 TDRD12
GH19J033175 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.6 +500.9 500853 3.8 ZNF221 SP1 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 RFX1 LRP3 ENSG00000267054 HSALNG0125414 TRT-AGT1-3 lnc-SLC7A10-1 GPATCH1 CEP89 ZNF507 LSM14A WDR88
GH19J032669 Enhancer 1 ENCODE 10.2 -5.7 -5735 0.9 GATAD2A ZBTB33 ZNF629 TFE3 LEF1 IKZF1 RCOR2 JUND PRDM1 MTA2 ANKRD27 GPATCH1 SNORA68B RGS9BP PDCD5 ENSG00000267557
GH19J032671 Enhancer 0.9 ENCODE 10.4 -4.0 -3979 1.4 LEF1 IKZF1 JUND MTA2 PKNOX1 MTA1 BRD9 DPF2 HDAC1 SOX6 ANKRD27 SNORA68B RGS9BP ENSG00000267557 PDCD5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RGS9BP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RGS9BP

Top Transcription factor binding sites by QIAGEN in the RGS9BP gene promoter:
  • AML1a
  • AREB6
  • HNF-4alpha1
  • HNF-4alpha2
  • p300
  • Pax-3
  • Pax-4a
  • Sp1
  • Spz1

Genomic Locations for RGS9BP Gene

Genomic Locations for RGS9BP Gene
chr19:32,675,848-32,678,300
(GRCh38/hg38)
Size:
2,453 bases
Orientation:
Plus strand
chr19:33,166,313-33,169,206
(GRCh37/hg19)
Size:
2,894 bases
Orientation:
Plus strand

Genomic View for RGS9BP Gene

Genes around RGS9BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RGS9BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RGS9BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RGS9BP Gene

Proteins for RGS9BP Gene

  • Protein details for RGS9BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZS82-R9BP_HUMAN
    Recommended name:
    Regulator of G-protein signaling 9-binding protein
    Protein Accession:
    Q6ZS82
    Secondary Accessions:
    • Q6ZVJ6

    Protein attributes for RGS9BP Gene

    Size:
    235 amino acids
    Molecular mass:
    25148 Da
    Quaternary structure:
    • 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).

neXtProt entry for RGS9BP Gene

Post-translational modifications for RGS9BP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RGS9BP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RGS9BP Gene

Domains & Families for RGS9BP Gene

Gene Families for RGS9BP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for RGS9BP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RGS9BP Gene

GenScript: Design optimal peptide antigens:
  • RGS9-anchoring protein (R9BP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZS82

UniProtKB/Swiss-Prot:

R9BP_HUMAN :
  • Belongs to the RGS7BP/RGS9BP family.
Family:
  • Belongs to the RGS7BP/RGS9BP family.
genes like me logo Genes that share domains with RGS9BP: view

Function for RGS9BP Gene

Molecular function for RGS9BP Gene

UniProtKB/Swiss-Prot 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 From GWAS Catalog for RGS9BP Gene

genes like me logo Genes that share phenotypes with RGS9BP: view

Human Phenotype Ontology for RGS9BP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RGS9BP Gene

MGI Knock Outs for RGS9BP:

Animal Model Products

CRISPR Products

miRNA for RGS9BP Gene

miRTarBase miRNAs that target RGS9BP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RGS9BP

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RGS9BP Gene

Localization for RGS9BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for RGS9BP Gene

Membrane. Single-pass type IV 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 RGS9BP gene
Compartment Confidence
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RGS9BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RGS9BP: view

Pathways & Interactions for RGS9BP Gene

genes like me logo Genes that share pathways with RGS9BP: view

Gene Ontology (GO) - Biological Process for RGS9BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0009968 negative regulation of signal transduction IEA --
GO:0050896 response to stimulus IEA --
GO:0050908 detection of light stimulus involved in visual perception IEA --
genes like me logo Genes that share ontologies with RGS9BP: view

No data available for SIGNOR curated interactions for RGS9BP Gene

Drugs & Compounds for RGS9BP Gene

No Compound Related Data Available

Transcripts for RGS9BP Gene

mRNA/cDNA for RGS9BP Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RGS9BP

Alternative Splicing Database (ASD) splice patterns (SP) for RGS9BP Gene

No ASD Table

Relevant External Links for RGS9BP Gene

GeneLoc Exon Structure for
RGS9BP

Expression for RGS9BP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RGS9BP Gene

mRNA expression in normal human tissues for RGS9BP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RGS9BP Gene

This gene is overexpressed in Retina (37.5), Salivary gland (14.5), and Tonsil (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RGS9BP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RGS9BP

SOURCE GeneReport for Unigene cluster for RGS9BP Gene:

Hs.528491

Evidence on tissue expression from TISSUES for RGS9BP Gene

  • Nervous system(4.4)
  • Kidney(4.2)
  • Eye(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RGS9BP Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with RGS9BP: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for RGS9BP Gene

Orthologs for RGS9BP Gene

This gene was present in the common ancestor of chordates.

Orthologs for RGS9BP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RGS9BP 30 31
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RGS9BP 30 31
  • 82.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rgs9bp 30 17 31
  • 82.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RGS9BP 30 31
  • 81.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rgs9bp 30
  • 81.72 (n)
Oppossum
(Monodelphis domestica)
Mammalia RGS9BP 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RGS9BP 30 31
  • 66.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RGS9BP 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491544 30
  • 59.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC559232 30
  • 63.59 (n)
RGS9BP 31
  • 51 (a)
OneToOne
Species where no ortholog for RGS9BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RGS9BP Gene

ENSEMBL:
Gene Tree for RGS9BP (if available)
TreeFam:
Gene Tree for RGS9BP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RGS9BP: view image

Paralogs for RGS9BP Gene

Paralogs for RGS9BP Gene

genes like me logo Genes that share paralogs with RGS9BP: view

Variants for RGS9BP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RGS9BP Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
2831 Pathogenic: Bradyopsia 32,676,454(+) A/AC FRAMESHIFT_VARIANT
713390 Benign: not provided 32,676,293(+) G/A SYNONYMOUS_VARIANT
760218 Likely Benign: not provided 32,676,962(+) G/A SYNONYMOUS_VARIANT
770808 Likely Benign: not provided 32,676,401(+) G/A SYNONYMOUS_VARIANT
849645 Uncertain Significance: not provided 32,676,615(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RGS9BP Gene

Variation tolerance for RGS9BP Gene

Gene Damage Index Score: 11.20; 92.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RGS9BP Gene

Human Gene Mutation Database (HGMD)
RGS9BP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RGS9BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RGS9BP Gene

Disorders for RGS9BP Gene

MalaCards: The human disease database

(20) MalaCards diseases for RGS9BP Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
prolonged electroretinal response suppression
  • perrs
abnormal threshold of rods
  • abnormal dark adaptation curve
acquired night blindness
oguchi disease 2
  • night blindness, congenital stationary, oguchi type 2; csnbo2
oguchi disease 1
  • night blindness, congenital stationary, oguchi type 1; csnbo1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

R9BP_HUMAN
  • Prolonged electroretinal response suppression (PERRS) [MIM:608415]: Characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones. {ECO:0000269 PubMed:14702087}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RGS9BP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RGS9BP: view

No data available for Genatlas for RGS9BP Gene

Publications for RGS9BP Gene

  1. Integrative predictive model of coronary artery calcification in atherosclerosis. (PMID: 19948975) McGeachie M … Ramoni MF (Circulation 2009) 3 41
  2. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. (PMID: 14702087) Nishiguchi KM … Dryja TP (Nature 2004) 3 4
  3. R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1. (PMID: 12119397) Hu G … Wensel TG (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 2 3
  5. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) GENDEP Investigators … STAR*D Investigators (The American journal of psychiatry 2013) 3

Products for RGS9BP Gene

Sources for RGS9BP Gene