RGS9BP

regulator of G protein signaling 9 binding protein

Basic information

Region (hg38): 19:32675848-32678300

Links

ENSG00000186326 ∙ NCBI:388531 ∙ OMIM:607814 ∙ HGNC:30304 ∙ Uniprot:Q6ZS82 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• bradyopsia (Strong), mode of inheritance: AR
• bradyopsia (Supportive), mode of inheritance: AR
• bradyopsia (Strong), mode of inheritance: AR
• prolonged electroretinal response suppression 2 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Prolonged electroretinal response suppression 2	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Ophthalmologic	14702087

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS9BP gene.

• not_provided (153 variants)
• not_specified (29 variants)
• Prolonged_electroretinal_response_suppression_2 (5 variants)
• RGS9BP-related_disorder (5 variants)
• Bradyopsia (3 variants)
• Retinal_dystrophy (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS9BP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207391.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4	56	2	62
missense	1		89	3		93
nonsense			5			5
start loss						0
frameshift	3	1	10			14
splice donor/acceptor (+/-2bp)						0
Total	4	1	108	59	2

Highest pathogenic variant AF is 0.00035201042

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS9BP	protein_coding	protein_coding	ENST00000334176	1	2894

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00232	0.549	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.675	110	132	0.835	0.00000598	1416
Missense in Polyphen		24	41.115	0.58373		462
Synonymous	1.21	55	67.6	0.813	0.00000323	548
Loss of Function	0.250	4	4.58	0.874	1.97e-7	46

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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). {ECO:0000250}.
• Disease: DISEASE: 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.
• Pathway: Signaling by GPCR;Signal Transduction;Visual signal transduction: Rods;G alpha (i) signalling events;Inactivation, recovery and regulation of the phototransduction cascade;The phototransduction cascade;Visual phototransduction;GPCR downstream signalling;Visual signal transduction: Cones (Consensus)

Recessive Scores

• pRec: 0.123

Haploinsufficiency Scores

• pHI: 0.163
• hipred: Y
• hipred_score: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.519

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rgs9bp
• Phenotype: vision/eye phenotype

Gene ontology

• Biological process: negative regulation of signal transduction;detection of light stimulus involved in visual perception
• Cellular component: photoreceptor outer segment;integral component of membrane