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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBXN8
UBX domain protein 8
Chromosome 8 · 8p12
NCBI Gene: 7993Ensembl: ENSG00000104691.16HGNC: HGNC:30307UniProt: A0A087WUA4
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingERAD pathwayendoplasmic reticulumendoplasmic reticulum membranestomach diseaseAbruptio Placentaeacute myeloid leukemiaosteitis deformans
✦AI Summary

UBXN8 (UBX domain protein 8) is a transmembrane endoplasmic reticulum (ER) protein that functions as a critical cofactor in ER-associated degradation (ERAD). The protein tethers VCP/p97 to the ER membrane via its UBX domain to facilitate efficient degradation of misfolded lumenal proteins 1. UBXN8 contains leucine zipper-like motifs and localizes to the ER membrane with its UBX domain oriented toward the cytoplasm 2. Knockdown of UBXN8 impairs p97 association with the ER membrane and retards degradation of misfolded proteasome substrates 1. Clinically, UBXN8 acts as a tumor suppressor. In hepatocellular carcinoma, aberrant UBXN8 expression following HBV integration functions in a TP53-dependent manner to suppress oncogenic transformation 3. In t(8;21) acute myeloid leukemia, the RUNX1-RUNX1T1 fusion protein epigenetically silences UBXN8 through DNA methylation-mediated heterochromatic silencing; restoring UBXN8 expression inhibits proliferation and promotes cell cycle arrest and differentiation 4. Additionally, UBXN8 shows tissue-specific expression enriched in reproductive tissues, suggesting a reproductive function 5. Population-specific genetic variation in UBXN8 has been identified, with potential implications for ancestry-informative screening 6.

Sources cited
1
UBXN8/Rep8 tethers p97/VCP to the ER membrane via UBX domain for ERAD of misfolded proteins; knockdown impairs p97-ER association and substrate degradation
PMID: 21949850
2
UBXN8/Rep8 contains leucine zipper-like motifs; expressed in early and late embryonic stages; single-copy gene
PMID: 9931425
3
UBXN8 functions as a tumor suppressor in hepatocellular carcinoma in a TP53-dependent manner when targeted by HBV integration
PMID: 24362074
4
UBXN8 is epigenetically silenced by RUNX1-RUNX1T1 through DNA methylation in t(8;21) AML; restoring expression inhibits proliferation and promotes differentiation
PMID: 34921223
5
UBXN8/Rep-8 is abundant in testis and ovary, suggesting reproductive function; located on chromosome 8p11.2-p12
PMID: 9027507
6
Population-stratified variants in UBXN8 identified between Han and Tujia populations with implications for ancestry-informative screening
PMID: 35180379
Disease Associationsⓘ20
stomach diseaseOpen Targets
0.11Weak
Abruptio PlacentaeOpen Targets
0.10Weak
acute myeloid leukemiaOpen Targets
0.07Suggestive
osteitis deformansOpen Targets
0.04Suggestive
cardiac transplantOpen Targets
0.03Suggestive
drug allergyOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
familial pancreatic carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NPLOC4Protein interaction100%NSFL1CProtein interaction100%UBAC2Protein interaction100%PPP2CBProtein interaction96%UBXN2AProtein interaction95%UBXN1Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Liver
43%
Bone Marrow
22%
Brain
13%
Lung
11%
Heart
9%
Gene Interaction Network
Click a node to explore
UBXN8NPLOC4NSFL1CUBAC2PPP2CBUBXN2AUBXN1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O00124
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.09 [0.83–1.46]
RankingsWhere UBXN8 stands among ~20K protein-coding genes
  • #11,268of 20,598
    Most Researched34
  • #14,918of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedUBXN8
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Haplotype-resolved de novo assembly of a Tujia genome suggests the necessity for high-quality population-specific genome references.
PMID: 35180379
Cell Syst · 2022
1.00
2
Genome-Wide DNA Methylation Profiles in Community Members Exposed to the World Trade Center Disaster.
PMID: 32751422
Int J Environ Res Public Health · 2020
0.86
3
The function of targeted host genes determines the oncogenicity of HBV integration in hepatocellular carcinoma.
PMID: 24362074
J Hepatol · 2014
0.71
4
Epigenetic silencing of UBXN8 contributes to leukemogenesis in t(8;21) acute myeloid leukemia.
PMID: 34921223
Exp Mol Med · 2021
0.57
5
Structures of mouse Rep-8 cDNA and genomic clones.
PMID: 9931425
Gene · 1999
0.43