RNF185

ring finger protein 185, the group of Ring finger proteins

Basic information

Region (hg38): 22:31160182-31207019

Links

ENSG00000138942 ∙ NCBI:91445 ∙ OMIM:620096 ∙ HGNC:26783 ∙ Uniprot:Q96GF1 ∙ 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 RNF185 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF185 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					1	1
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	1

Variants in RNF185

This is a list of pathogenic ClinVar variants found in the RNF185 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-31187119-T-G		not specified	Uncertain significance (Dec 13, 2022)
22-31187165-G-A		not specified	Uncertain significance (Oct 06, 2022)
22-31192690-G-A			Benign (Nov 29, 2017)
22-31195527-G-C		not specified	Uncertain significance (Mar 16, 2024)
22-31196939-G-C		not specified	Uncertain significance (Sep 21, 2023)
22-31196949-C-G		not specified	Uncertain significance (Dec 08, 2023)
22-31196976-C-A		not specified	Uncertain significance (Jun 29, 2023)
22-31196977-C-T		not specified	Uncertain significance (Mar 29, 2022)
22-31201603-C-T		not specified	Uncertain significance (Apr 30, 2024)
22-31204533-C-T		not specified	Uncertain significance (Dec 30, 2023)
22-31204557-G-T		not specified	Uncertain significance (May 22, 2023)
22-31204579-T-C		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF185	protein_coding	protein_coding	ENST00000326132	6	46838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.177	0.811	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	81	112	0.720	0.00000600	1250
Missense in Polyphen		15	35.77	0.41935		396
Synonymous	-0.374	47	43.8	1.07	0.00000256	374
Loss of Function	2.18	3	10.7	0.280	5.39e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000355	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating 'Lys-63'-linked polyubiquitination of BNIP1 (PubMed:21931693). Acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation (PubMed:27485036). Protects cells from ER stress-induced apoptosis (PubMed:27485036). Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway (PubMed:24019521). Preferentially associates with the E2 enzymes UBE2J1 and UBE2J2 (PubMed:24019521). {ECO:0000269|PubMed:21931693, ECO:0000269|PubMed:24019521, ECO:0000269|PubMed:27485036}.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human);Disorders of transmembrane transporters;Disease;Defective CFTR causes cystic fibrosis;ER Quality Control Compartment (ERQC);Calnexin/calreticulin cycle;Post-translational protein modification;Metabolism of proteins;Transport of small molecules;Asparagine N-linked glycosylation;ABC-family proteins mediated transport;N-glycan trimming in the ER and Calnexin/Calreticulin cycle;ABC transporter disorders (Consensus)

Intolerance Scores

• loftool: 0.136
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.381
• hipred: Y
• hipred_score: 0.662
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.868

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf185

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;autophagy;ubiquitin-dependent ERAD pathway;ERAD pathway;protein autoubiquitination;transmembrane transport;ER-associated misfolded protein catabolic process;endoplasmic reticulum mannose trimming
• Cellular component: mitochondrial outer membrane;endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane;Derlin-1 retrotranslocation complex;endoplasmic reticulum quality control compartment
• Molecular function: protein binding;ubiquitin-like protein conjugating enzyme binding;metal ion binding;ubiquitin protein ligase activity