RNF26

ring finger protein 26, the group of Ring finger proteins

Basic information

Region (hg38): 11:119334527-119337309

Links

ENSG00000173456 ∙ NCBI:79102 ∙ OMIM:606130 ∙ HGNC:14646 ∙ Uniprot:Q9BY78 ∙ 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 RNF26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF26 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			38	1		39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	1	0

Variants in RNF26

This is a list of pathogenic ClinVar variants found in the RNF26 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-119335136-A-G		not specified	Uncertain significance (Jan 21, 2025)
11-119335192-C-A		not specified	Uncertain significance (Apr 23, 2024)
11-119335219-C-G		not specified	Uncertain significance (Oct 12, 2021)
11-119335267-A-G		not specified	Uncertain significance (Sep 18, 2024)
11-119335277-C-T		not specified	Uncertain significance (Mar 29, 2022)
11-119335316-T-C		not specified	Uncertain significance (Oct 09, 2024)
11-119335343-G-C		not specified	Uncertain significance (Apr 19, 2024)
11-119335354-G-C		not specified	Uncertain significance (Jan 16, 2024)
11-119335409-G-T		not specified	Uncertain significance (Aug 14, 2024)
11-119335484-A-G		not specified	Likely benign (Dec 04, 2024)
11-119335497-T-G		not specified	Uncertain significance (Dec 28, 2022)
11-119335514-G-A		not specified	Uncertain significance (May 22, 2023)
11-119335556-C-T		not specified	Uncertain significance (Jul 06, 2021)
11-119335594-G-A		not specified	Uncertain significance (Jan 26, 2023)
11-119335628-T-C		not specified	Uncertain significance (Feb 22, 2025)
11-119335645-G-A		not specified	Uncertain significance (Oct 26, 2022)
11-119335696-T-G		not specified	Uncertain significance (Jan 04, 2022)
11-119335699-A-G		not specified	Uncertain significance (Dec 20, 2023)
11-119335795-C-T		not specified	Uncertain significance (Mar 03, 2025)
11-119335819-T-A		not specified	Uncertain significance (Dec 13, 2023)
11-119335841-T-C		not specified	Uncertain significance (Oct 29, 2021)
11-119335886-C-G		not specified	Uncertain significance (Jun 27, 2023)
11-119335900-C-G		not specified	Uncertain significance (Nov 07, 2022)
11-119335912-C-T		not specified	Uncertain significance (Mar 31, 2023)
11-119335913-G-A		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF26	protein_coding	protein_coding	ENST00000311413	1	2787

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.653	0.346	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	209	263	0.795	0.0000164	2723
Missense in Polyphen		33	57.061	0.57833		644
Synonymous	-0.263	117	113	1.03	0.00000616	1006
Loss of Function	2.69	2	12.1	0.166	7.55e-7	119

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that plays a key role in endosome organization by retaining vesicles in the perinuclear cloud (PubMed:27368102). Acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1 (PubMed:27368102). Ubiquitinated SQSTM1 attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Also acts as a regulator of type I interferon production in response to viral infection by mediating the formation of 'Lys-11'-linked polyubiquitin chains on TMEM173/STING, leading to stabilize TMEM173/STING (PubMed:25254379). Also required to limit type I interferon response by promoting autophagic degradation of IRF3 (PubMed:25254379). {ECO:0000269|PubMed:25254379, ECO:0000269|PubMed:27368102}.

Recessive Scores

• pRec: 0.137

Intolerance Scores

• loftool: 0.294
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.213
• hipred: N
• hipred_score: 0.370
• ghis: 0.638

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.788

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf26

Gene ontology

• Biological process: endosome organization;protein ubiquitination;regulation of type I interferon production;negative regulation of defense response to virus;protein K11-linked ubiquitination;protein localization to perinuclear region of cytoplasm
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: protein binding;zinc ion binding;ubiquitin protein ligase activity