RIMBP3B

RIMS binding protein 3B

Basic information

Region (hg38): 22:21383751-21389478

Links

ENSG00000274600 ∙ NCBI:440804 ∙ OMIM:612700 ∙ HGNC:33891 ∙ Uniprot:A6NNM3 ∙ 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 RIMBP3B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIMBP3B 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			21	2		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	0

Variants in RIMBP3B

This is a list of pathogenic ClinVar variants found in the RIMBP3B region.

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

Position	Type	Phenotype	Significance	ClinVar
22-21386913-C-T		not specified	Uncertain significance (Apr 13, 2022)
22-21387115-C-A		not specified	Uncertain significance (Jan 08, 2024)
22-21387124-C-T		not specified	Uncertain significance (Apr 05, 2023)
22-21387131-G-T		not specified	Likely benign (Jun 09, 2022)
22-21387144-C-T		not specified	Uncertain significance (Apr 25, 2023)
22-21387165-C-G		not specified	Uncertain significance (Dec 26, 2023)
22-21387183-C-T		not specified	Uncertain significance (Aug 12, 2021)
22-21387201-G-A		not specified	Uncertain significance (Feb 28, 2023)
22-21387205-G-C		not specified	Uncertain significance (Sep 09, 2021)
22-21387225-G-T		not specified	Uncertain significance (Oct 20, 2023)
22-21387646-A-C		not specified	Uncertain significance (Mar 31, 2022)
22-21387675-A-G		not specified	Uncertain significance (Apr 01, 2022)
22-21387777-C-A		not specified	Uncertain significance (Apr 22, 2022)
22-21387990-G-A		not specified	Likely benign (Apr 07, 2022)
22-21388180-G-A		not specified	Uncertain significance (Jan 23, 2023)
22-21388261-T-C		not specified	Uncertain significance (Dec 06, 2022)
22-21388389-C-T		not specified	Uncertain significance (Apr 12, 2023)
22-21388392-G-A		not specified	Uncertain significance (Mar 07, 2023)
22-21388413-G-A		not specified	Uncertain significance (Jun 18, 2024)
22-21388539-G-A		not specified	Uncertain significance (Mar 26, 2024)
22-21388617-A-G		not specified	Uncertain significance (Jun 09, 2022)
22-21388653-G-A		not specified	Uncertain significance (Jul 08, 2022)
22-21388657-G-A		not specified	Uncertain significance (Jun 28, 2022)
22-21388662-G-A		not specified	Uncertain significance (Oct 20, 2021)
22-21388695-G-A		not specified	Uncertain significance (Feb 05, 2024)

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}.

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

Gene ontology

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