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Aliases for RGS9BP Gene

Aliases for RGS9BP Gene

  • Regulator Of G-Protein Signaling 9 Binding Protein 2 3 5
  • RGS9-Anchoring Protein 3 4
  • R9AP 3 4
  • Regulator Of G Protein Signalling 9 Binding Protein 2
  • Regulator Of G-Protein Signaling 9-Binding Protein 3
  • RGS9 Anchor Protein 3
  • PERRS 3
  • 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 Bradyopsia. Among its related pathways are Metabolism of fat-soluble vitamins and Phototransduction.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RGS9BP Gene

Genomics for RGS9BP Gene

Regulatory Elements for RGS9BP Gene

Enhancers for RGS9BP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F032669 1.3 Ensembl ENCODE 10.1 -5.3 -5307 1.0 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A GLI4 DMAP1 KLF7 KLF13 ANKRD27 GPATCH1 ENSG00000201388 RGS9BP PDCD5 ENSG00000267557
GH19F032671 1.1 ENCODE 10.5 -3.5 -3539 1.4 PKNOX1 ATF1 ZNF133 FEZF1 ZNF2 ZNF121 ZNF302 ELK1 GATA2 KLF7 GPATCH1 ANKRD27 LINC01533 AKR1B1P7 LOC100996681 ENSG00000267012 RPL21P131 FAAP24 WDR88 ENSG00000201388
GH19F032674 1.1 ENCODE 10.5 0.0 -9 2.5 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF416 ZNF143 ZNF548 FOS GPATCH1 ANKRD27 LINC01533 AKR1B1P7 LOC100996681 RPL21P131 ENSG00000267012 WDR88 ENSG00000267489 RGS9BP
GH19F032868 1.1 Ensembl ENCODE 9.9 +194.5 194530 2.6 CTCF TBP TFAP4 ZNF146 SAP130 ARID4B ZNF384 ZIC2 RAD21 RARA SLC7A9 NUDT19 FAAP24 ANKRD27 RGS9BP CHST8 GC19M032863 RN7SKP22
GH19F032642 0.8 ENCODE 11.8 -32.3 -32291 1.3 PKNOX1 RAD21 ZNF335 GLIS2 ZNF366 ZNF263 ZBTB11 ZEB2 TSHZ1 ZNF623 ANKRD27 ENSG00000201388 RGS9BP GC19M032613 RPS12P31
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RGS9BP on UCSC Golden Path with GeneCards custom track

Promoters for RGS9BP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000345538 -7 2401 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZNF416 ZNF143 ZNF548 FOS ZNF263

Genomic Location for RGS9BP Gene

Chromosome:
19
Start:
32,675,407 bp from pter
End:
32,678,300 bp from pter
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

Protein Domains for RGS9BP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RGS9BP Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for RGS9BP Gene

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 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 1
peroxisome 1
cytosol 1

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

Transcripts for RGS9BP Gene

mRNA/cDNA for RGS9BP Gene

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

Unigene Clusters for RGS9BP Gene

Regulator of G protein signaling 9 binding protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for RGS9BP Gene

GeneLoc Exon Structure for
RGS9BP
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for RGS9BP Gene



NURSA nuclear receptor signaling pathways regulating expression of RGS9BP Gene:

RGS9BP

SOURCE GeneReport for Unigene cluster for RGS9BP Gene:

Hs.528491
genes like me logo Genes that share expression patterns with RGS9BP: view

Primer Products

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 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia RGS9BP 34 35
  • 82.7 (n)
mouse
(Mus musculus)
Mammalia Rgs9bp 34 16 35
  • 82.03 (n)
dog
(Canis familiaris)
Mammalia RGS9BP 34 35
  • 81.97 (n)
rat
(Rattus norvegicus)
Mammalia Rgs9bp 34
  • 81.72 (n)
oppossum
(Monodelphis domestica)
Mammalia RGS9BP 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves RGS9BP 34 35
  • 66.97 (n)
lizard
(Anolis carolinensis)
Reptilia RGS9BP 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491544 34
  • 59.94 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC559232 34
  • 63.59 (n)
RGS9BP 35
  • 51 (a)
OneToOne
Species where no ortholog for RGS9BP 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RGS9BP Gene

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

Paralogs for RGS9BP Gene

No data available for Paralogs for RGS9BP Gene

Variants for RGS9BP Gene

Sequence variations from dbSNP and Humsavar for RGS9BP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs150936907 Benign 32,676,959(+) GTGGC(A/G)AAGCT upstream-variant-2KB, reference, synonymous-codon
rs259290 Benign 32,676,549(-) CAGCG(A/C)GCGTC upstream-variant-2KB, reference, missense
rs259291 Benign 32,676,973(-) GTGTC(C/T)GTCAG upstream-variant-2KB, utr-variant-3-prime
rs35413309 Benign 32,676,931(+) GCTGG(C/T)GGCTG upstream-variant-2KB, reference, missense
rs10411566 -- 32,677,699(+) AGTGC(A/G)CACAC utr-variant-3-prime

Variation tolerance for RGS9BP Gene

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

Relevant External Links 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

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

Disorder Aliases PubMed IDs
bradyopsia
  • prolonged electroretinal response suppression
- 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.

Relevant External Links for RGS9BP

Genetic Association Database (GAD)
RGS9BP
Human Genome Epidemiology (HuGE) Navigator
RGS9BP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RGS9BP
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 M.F. (Circulation 2009) 3 46 64
  2. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. (PMID: 14702087) Nishiguchi K.M. … Dryja T.P. (Nature 2004) 3 4 64
  3. R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1. (PMID: 12119397) Hu G. … Wensel T.G. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 2 3 64
  5. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3 64

Products for RGS9BP Gene

Sources for RGS9BP Gene

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