RGS7BP

regulator of G protein signaling 7 binding protein

Basic information

Region (hg38): 5:64506014-64612319

Links

ENSG00000186479 ∙ NCBI:401190 ∙ OMIM:610890 ∙ HGNC:23271 ∙ Uniprot:Q6MZT1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS7BP gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS7BP gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in RGS7BP

This is a list of pathogenic ClinVar variants found in the RGS7BP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-64506663-C-G		not specified	Uncertain significance (Feb 28, 2023)
5-64506673-C-A		not specified	Uncertain significance (Jul 12, 2022)
5-64506711-G-C		not specified	Uncertain significance (Apr 12, 2023)
5-64506728-G-T		not specified	Uncertain significance (Feb 10, 2023)
5-64506769-G-A		not specified	Uncertain significance (Dec 21, 2022)
5-64507748-G-A		not specified	Uncertain significance (Jun 22, 2021)
5-64594718-C-A		not specified	Uncertain significance (Feb 16, 2023)
5-64594759-G-C		not specified	Uncertain significance (Jun 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS7BP	protein_coding	protein_coding	ENST00000334025	6	106056

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.958	0.0422	125548	0	2	125550	0.00000797

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	110	145	0.760	0.00000728	1668
Missense in Polyphen		3	6.1763	0.48573		55
Synonymous	0.0634	55	55.6	0.989	0.00000285	493
Loss of Function	3.26	1	14.3	0.0699	7.63e-7	161

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)	0.0000179	0.0000176
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. Regulatory subunit of the R7-Gbeta5 complexes that acts by controlling the subcellular location of the R7-Gbeta5 complexes. When palmitoylated, it targets the R7-Gbeta5 complexes to the plasma membrane, leading to inhibit G protein alpha subunits. When it is unpalmitoylated, the R7-Gbeta5 complexes undergo a nuclear/cytoplasmic shuttling. May also act by controlling the proteolytic stability of R7 proteins, probably by protecting them from degradation. {ECO:0000250|UniProtKB:Q8BQP9}.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.172
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.620
• hipred: Y
• hipred_score: 0.800
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs7bp
• Phenotype: normal phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;negative regulation of signal transduction;regulation of postsynaptic membrane potential
• Cellular component: nucleus;cytoplasm;glutamatergic synapse;anchored component of presynaptic membrane;anchored component of postsynaptic density membrane