UBXN8

UBX domain protein 8, the group of UBX domain containing

Basic information

Region (hg38): 8:30729131-30767006

Previous symbols: [ "UBXD6" ]

Links

ENSG00000104691 ∙ NCBI:7993 ∙ OMIM:602155 ∙ HGNC:30307 ∙ Uniprot:O00124 ∙ 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 UBXN8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBXN8 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			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in UBXN8

This is a list of pathogenic ClinVar variants found in the UBXN8 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-30744242-T-C		not specified	Uncertain significance (Apr 01, 2024)
8-30744257-G-A		not specified	Uncertain significance (Nov 18, 2022)
8-30751426-G-A		not specified	Uncertain significance (Mar 13, 2023)
8-30751489-C-T		not specified	Uncertain significance (Jul 13, 2021)
8-30751503-C-G		not specified	Uncertain significance (Sep 29, 2022)
8-30751506-G-A		not specified	Uncertain significance (Mar 06, 2023)
8-30754696-C-T		not specified	Uncertain significance (Oct 16, 2023)
8-30754747-C-T		not specified	Uncertain significance (Mar 22, 2023)
8-30754750-G-A		not specified	Uncertain significance (Apr 13, 2023)
8-30756766-G-T		not specified	Uncertain significance (Jan 03, 2022)
8-30756771-G-A		not specified	Uncertain significance (Feb 08, 2025)
8-30756781-G-A		not specified	Uncertain significance (Feb 13, 2024)
8-30756843-T-G		not specified	Likely benign (Apr 07, 2022)
8-30756856-C-T		not specified	Uncertain significance (Feb 22, 2025)
8-30760891-C-G		not specified	Uncertain significance (Mar 25, 2024)
8-30760895-A-G		not specified	Uncertain significance (Dec 25, 2024)
8-30760909-C-T		not specified	Uncertain significance (May 09, 2023)
8-30763304-G-C		not specified	Uncertain significance (May 15, 2024)
8-30763308-T-A		not specified	Uncertain significance (Apr 08, 2024)
8-30763321-A-G		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction. {ECO:0000269|PubMed:21949850}.

Recessive Scores

• pRec: 0.0945

Haploinsufficiency Scores

• pHI: 0.126

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.749

Mouse Genome Informatics

• Gene name: Ubxn8

Gene ontology

• Biological process: single fertilization;ubiquitin-dependent ERAD pathway
• Cellular component: nucleoplasm;nucleolus;endoplasmic reticulum;integral component of endoplasmic reticulum membrane
• Molecular function: protein binding