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.

• not_specified (27 variants)

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. These statistics are base on transcript: NM_000005671.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			24	3		27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	24	3	0

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