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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMUB2
transmembrane and ubiquitin like domain containing 2
Chromosome 17 Β· 17q21.31
NCBI Gene: 79089Ensembl: ENSG00000168591.16HGNC: HGNC:28459UniProt: B4DFQ1
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingERAD pathwaymembraneAbnormality of the skeletal systemsleep apneaimmunodeficiency 88chronic myeloproliferative disorder
✦AI Summary

TMUB2 (transmembrane and ubiquitin-like domain containing 2) is an ER membrane protein involved in quality control and protein degradation. As a component of the ERAD (ER-associated degradation) pathway, TMUB2 functions within a specialized ubiquitin ligase complex consisting of RNF185, TMUB1/2, and TMEM259/Membralin that selectively degrades misfolded ER membrane proteins 1. This complex cooperates with cytosolic ubiquitin ligase UBE3C and p97 ATPase to remove defective membrane substrates, demonstrating remarkable substrate specificity in ERAD branch function 1. Clinically, TMUB2 has emerged as a novel candidate gene associated with osteoporosis susceptibility. Transcriptome-wide association studies identified TMUB2 among 14 novel genes with potential causal effects on bone mineral density and fracture risk through expression or RNA splicing mechanisms 2. Additionally, TMUB2 shows differential expression in early-stage prostate cancer progression, suggesting roles in ubiquitin-proteasome pathway dysregulation associated with cancer progression 3. These findings indicate TMUB2's importance in both physiological protein quality control and disease-related proteasomal dysfunction, positioning it as a potential biomarker and therapeutic target across multiple pathologies.

Sources cited
1
TMUB2 is a ubiquitin-like domain protein component of an ERAD complex with RNF185 and TMEM259 that degrades misfolded ER membrane proteins
PMID: 32738194
2
TMUB2 is a novel gene identified through TWAS with potential causal effects on bone mineral density and fracture risk in osteoporosis
PMID: 32827035
3
TMUB2 shows differential expression at early stages of prostate cancer progression (pT3a, Gleason 3+4)
PMID: 40295064
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
sleep apneaOpen Targets
0.07Suggestive
immunodeficiency 88Open Targets
0.04Suggestive
chronic myeloproliferative disorderOpen Targets
0.04Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.03Suggestive
osteoporosisOpen Targets
0.03Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.03Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.03Suggestive
bone fractureOpen Targets
0.02Suggestive
bipolar I disorderOpen Targets
0.02Suggestive
osteoarthritis, kneeOpen Targets
0.02Suggestive
bipolar disorderOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
UBXN4Shared pathway100%FAM8A1Shared pathway100%RNF121Shared pathway100%RNF175Shared pathway100%SEL1L2Shared pathway100%FOXRED2Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
87%
Ovary
79%
Liver
78%
Heart
62%
Brain
51%
Gene Interaction Network
Click a node to explore
TMUB2UBXN4FAM8A1RNF121RNF175SEL1L2FOXRED2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q71RG4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.58–1.27]
RankingsWhere TMUB2 stands among ~20K protein-coding genes
  • #12,696of 20,598
    Most Researched27
  • #13,384of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedTMUB2
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Gene Expression and RNA Splicing Imputation Identifies Novel Candidate Genes Associated with Osteoporosis.
PMID: 32827035
J Clin Endocrinol Metab Β· 2020
1.00
2
Quality Control of ER Membrane Proteins by the RNF185/Membralin Ubiquitin Ligase Complex.
PMID: 32738194
Mol Cell Β· 2020
0.67
3
Ubiquitin-proteasome Pathway-linked Gene Signatures as Prognostic Indicators in Prostate Cancer.
PMID: 40295064
Anticancer Res Β· 2025
0.33