Seroatlas · Human Serome Atlas

RGS9BP

Regulator of G-protein signaling 9-binding protein

Also known as: FLJ45744, PERRS, R9AP, R9BP_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6ZS82
Gene: RGS9BP
Ensembl: ENSG00000186326
Chromosome: 19
Canonical length: 235 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location: Nucleoli,Plasma membrane,Mid piece,Principal piece,End piece

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

235 residues, UniProt reviewed canonical sequence.

>Q6ZS82|RGS9BP
     1  MAREECKALL DGLNKTTACY HHLVLTVGGS ADSQNLRQEL QKTRQKAQEL AVSTCARLTA
    61  VLRDRGLAAD ERAEFERLWV AFSGCLDLLE ADMRRALELG AAFPLHAPRR PLVRTGVAGA
   121  SSGVAARALS TRSLRLEAEG DFDVADLREL EREVLQVGEM IDNMEMKVNV PRWTVQARQA
   181  AGAELLSTVS AGPSSVVSLQ ERGGGCDPRK ALAAILFGAV LLAAVALAVC VAKLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RGS9BP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Unknown
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

retina: 16 nTPM
choroid plexus: 12 nTPM
skeletal muscle: 8.4 nTPM
tongue: 3 nTPM
heart muscle: 1.4 nTPM
urinary bladder: 0.6 nTPM

Single-cell type

retinal pigment epithelial cells: 38 nCPM
rod photoreceptor cells: 37 nCPM
cone photoreceptor cells: 35 nCPM
retinal bipolar cells: 17 nCPM
cardiomyocytes: 7 nCPM
early spermatids: 4.5 nCPM

Immune cell

gdT-cell: 0.2 nTPM
memory CD8 T-cell: 0.2 nTPM
intermediate monocyte: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

choroid plexus: 62 nTPM
hippocampal formation: 7.6 nTPM
thalamus: 4.1 nTPM
midbrain: 3.8 nTPM
medulla oblongata: 3.1 nTPM
hypothalamus: 2.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RGS9BP.

Disease | AllUniProt

Conditions RGS9BP is implicated in, by any mechanism.

Prolonged electroretinal response suppression 2 (PERRS2) MIM:620344

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 184 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bradyopsia
Prolonged electroretinal response suppression 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.76
gnomAD pLI: 0
gnomAD missense Z: 0.67
DepMap mean gene effect: 0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

RGS7BP/RGS9BP family

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RGS9BP as an antibody target. Whether an autoantibody or antibody against RGS9BP could matter depends on whether native RGS9BP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RGS9BP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RGS9BP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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