UBXN8

protein-coding

UBX domain protein 8, the group of UBX domain containing

Gene summary

p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]

Previous symbols:

UBXD6

MANE transcript

NM_005671.4

Inheritance

—

ClinVar variants

U:30B:3

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr8:30,729,131-30,767,006

External References & Databases

Ensembl (ENSG00000104691)

Transcript & Mutation Effects

hg38 • Region Span ~37.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UBXN8 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 31

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005671.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			29 clinvar	3 clinvar		32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	3	0	33

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005671.4	RefSeq	NP_005662.2	8	MANE Select
ENST00000265616.10	Ensembl	ENSP00000479216.1	8	MANE Select
NM_001282189.2	RefSeq	NP_001269118.1	8	Standard
NM_001282199.2	RefSeq	NP_001269128.2	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

single fertilization
ubiquitin-dependent ERAD pathway

Molecular Function

protein binding

Cellular Component

nucleoplasm
nucleolus
endoplasmic reticulum
integral component of endoplasmic reticulum membrane

dbNSFP Gene Annotations

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

Essentials

Indispensability pred.: E
Indispensability score: 0.749