RIMBP3

RIMS binding protein 3

Basic information

Region (hg38): 22:18605815-18611919

Links

ENSG00000275793 ∙ NCBI:85376 ∙ OMIM:612699 ∙ HGNC:29344 ∙ Uniprot:Q9UFD9 ∙ 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 RIMBP3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIMBP3 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				2		2
missense			59	15		74
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	59	17	0

Variants in RIMBP3

This is a list of pathogenic ClinVar variants found in the RIMBP3 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-18606699-T-C		not specified	Uncertain significance (Oct 12, 2021)
22-18606775-C-A		not specified	Uncertain significance (Mar 19, 2024)
22-18606912-C-G		not specified	Uncertain significance (Nov 18, 2022)
22-18607077-G-A		not specified	Uncertain significance (Feb 06, 2024)
22-18607092-G-A		not specified	Uncertain significance (May 02, 2024)
22-18607113-C-T		not specified	Uncertain significance (Nov 08, 2022)
22-18607132-C-T		not specified	Uncertain significance (Oct 12, 2021)
22-18607152-C-T		not specified	Uncertain significance (May 17, 2023)
22-18607195-C-T		not specified	Uncertain significance (Mar 17, 2023)
22-18607266-A-G		not specified	Likely benign (May 07, 2024)
22-18607291-C-T		not specified	Uncertain significance (Jan 24, 2023)
22-18607336-C-T		not specified	Likely benign (Dec 03, 2021)
22-18607399-C-T		not specified	Uncertain significance (Dec 30, 2023)
22-18607438-C-G		not specified	Uncertain significance (Nov 01, 2021)
22-18607438-C-T		not specified	Likely benign (Aug 04, 2021)
22-18607443-C-T		not specified	Likely benign (Aug 02, 2021)
22-18607444-G-A		not specified	Uncertain significance (Feb 11, 2022)
22-18607524-C-G		not specified	Uncertain significance (Feb 23, 2023)
22-18607534-G-T		not specified	Uncertain significance (Aug 21, 2023)
22-18607578-C-T		not specified	Uncertain significance (Mar 31, 2022)
22-18607624-C-T		not specified	Likely benign (Nov 03, 2022)
22-18607702-C-T		not specified	Uncertain significance (Apr 08, 2024)
22-18607792-G-A		not specified	Uncertain significance (Nov 07, 2022)
22-18607837-T-C		not specified	Uncertain significance (Jul 05, 2023)
22-18607866-C-T		not specified	Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. {ECO:0000250|UniProtKB:Q3V0F0}.

Recessive Scores

• pRec: 0.0839

Essentials

• essential_gene_CRISPR: 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: Rimbp3
• Phenotype: cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: neuromuscular synaptic transmission;spermatid development;fertilization
• Cellular component: manchette;nucleus;cytoplasm
• Molecular function: protein binding;benzodiazepine receptor binding