TMUB2

Chr 17

transmembrane and ubiquitin like domain containing 2

Also known as: FP2653

NCBI Gene: 79089UniProt: Q71RG4

Predicted to be involved in ERAD pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
64
ClinVar variants
9
Pathogenic / LP
-0.3
Missense Z
1.53
LOEUF
3
Pubs (2 yr)
Clinical Summary— TMUB2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
9 Pathogenic / Likely Pathogenic· 51 VUS of 64 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TMUB2?content-type=application/json&expand=1

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.53LOEUF
pLI 0.000
Z-score 0.40
OE 0.86 (0.50–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.32Z-score
OE missense 1.07 (0.95–1.20)
206 obs / 193.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.86 (0.50–1.53)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.07 (0.95–1.20)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.12
0≤1.21.6
LoF obs/exp: 8 / 9.3Missense obs/exp: 206 / 193.3Syn Z: -0.84

ClinVar Variant Classifications

64 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
VUS51
Likely Benign4
9
Pathogenic
51
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
0
0
0
VUS
0
49
2
0
51
Likely Benign
0
3
0
1
4
Benign
0
0
0
0
0
Total05211164

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TMUB2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Extreme temperatures modulate gene expression in the airway epithelium of the lungs in mice and asthma patients
Makrufardi F et al.·Front Med (Lausanne)
2025Cohort
Identification of New Genes and Loci Associated With Bone Mineral Density Based on Mendelian Randomization
Liu Y et al.·Front Genet
2021
ER Disposal Pathways in Chronic Liver Disease: Protective, Pathogenic, and Potential Therapeutic Targets
Duwaerts CC et al.·Front Mol Biosci
2022
Membrane protein folding and quality control
Phillips BP et al.·Curr Opin Struct Biol
2021
Comparing gene expression in deep infiltrating endometriosis with adenomyosis uteri: evidence for dysregulation of oncogene pathways
Marshall A et al.·Reprod Biol Endocrinol
2023
ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway
Veronese M et al.·Life Sci Alliance
2024
Tendon midsubstance trauma as a means for the development of translatable chronic rotator cuff degeneration in an ovine model
Johnson J et al.·Ann Transl Med
2021Functional
Quantitative Proteomics and Differential Protein Abundance Analysis after the Depletion of PEX3 from Human Cells Identifies Additional Aspects of Protein Targeting to the ER
Zimmermann R et al.·Int J Mol Sci
2021
Systematic Profiling of Alternative Splicing Events in Ovarian Cancer
Liu J et al.·Front Oncol
2021
Top 9 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients