RNF182

ring finger protein 182, the group of Ring finger proteins

Basic information

Region (hg38): 6:13924446-13980310

Links

ENSG00000180537 ∙ NCBI:221687 ∙ ∙ HGNC:28522 ∙ Uniprot:Q8N6D2 ∙ 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 RNF182 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF182 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in RNF182

This is a list of pathogenic ClinVar variants found in the RNF182 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-13977143-C-A		not specified	Uncertain significance (Feb 16, 2023)
6-13977193-A-G		not specified	Uncertain significance (Dec 07, 2024)
6-13977267-A-C		not specified	Uncertain significance (Oct 12, 2021)
6-13977291-C-T		not specified	Uncertain significance (Feb 28, 2024)
6-13977316-T-A		not specified	Uncertain significance (Jun 29, 2023)
6-13977348-G-A		not specified	Uncertain significance (Sep 06, 2022)
6-13977366-G-A		not specified	Uncertain significance (Sep 06, 2022)
6-13977477-A-G		not specified	Uncertain significance (Jun 22, 2024)
6-13977521-G-A		not specified	Uncertain significance (Dec 18, 2023)
6-13977547-C-A		not specified	Uncertain significance (Mar 16, 2024)
6-13977550-T-G		not specified	Uncertain significance (Feb 09, 2023)
6-13977559-C-T		not specified	Uncertain significance (Aug 16, 2021)
6-13977582-C-A		not specified	Uncertain significance (Feb 03, 2022)
6-13977640-C-T		not specified	Uncertain significance (Jun 12, 2023)
6-13977666-C-T		not specified	Uncertain significance (Aug 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF182	protein_coding	protein_coding	ENST00000488300	1	55857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00468	0.699	125718	0	26	125744	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.224	122	129	0.945	0.00000691	1604
Missense in Polyphen		34	39.098	0.8696		502
Synonymous	-1.04	67	57.0	1.18	0.00000337	516
Loss of Function	0.693	4	5.80	0.690	3.17e-7	78

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway. {ECO:0000269|PubMed:18298843}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.126
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.236
• hipred: Y
• hipred_score: 0.506
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.838

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf182

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: cytoplasm;integral component of membrane
• Molecular function: ubiquitin-protein transferase activity;protein binding;metal ion binding