TUBG2
Chr 17tubulin gamma 2
Predicted to enable GTP binding activity and microtubule nucleator activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic sister chromatid segregation. Located in microtubule. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— TUBG2
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
6 Pathogenic / Likely Pathogenic· 37 VUS of 45 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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.
0.80LOEUF
pLI 0.000
Z-score 2.30
OE 0.50 (0.32–0.80)
Typical tolerance to LoF variation
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.
2.44Z-score
OE missense 0.59 (0.52–0.67)
167 obs / 282.6 exp
Moderately missense-constrained (top ~2.5%)
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.0.50 (0.32–0.80)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.59 (0.52–0.67)
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.1.14
0≤1.21.6
LoF obs/exp: 12 / 24.2Missense obs/exp: 167 / 282.6Syn Z: -1.18
ClinVar Variant Classifications
45 submitted variants in ClinVar
Classification Summary
Pathogenic6
VUS37
Benign2
6
Pathogenic
37
VUS
2
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 37 | 0 | 0 | 37 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 38 | 6 | 1 | 45 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TUBG2 · 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
TUBULIN, GAMMA-2; TUBG2
MIM #605785 · *
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Human TUBG2 gene is expressed as two splice variant mRNA and involved in cell growth.
Ohashi T et al.·FEBS Lett
2016
Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine.
Meyers TJ et al.·HGG Adv
2023
A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
Thulasirajah S et al.·Genes (Basel)
2022Case report
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Identification of novel genes for age-at-onset of Alzheimer's disease by combining quantitative and survival trait analyses.
Li YJ et al.·Alzheimers Dement
2023
The gamma-tubulin meshwork assists in the recruitment of PCNA to chromatin in mammalian cells
Corvaisier M et al.·Commun Biol
2021
RHAMM Is a Multifunctional Protein That Regulates Cancer Progression
Messam BJ et al.·Int J Mol Sci
2021Functional
Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case
Srivastava P et al.·Cureus
2024
Microtubule-associated proteins promote microtubule generation in the absence of gamma-tubulin in human colon cancer cells
Tsuchiya K et al.·J Cell Biol
2021
Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile)
Ash AS et al.·Cureus
2024
RNase H2, mutated in Aicardi-Goutieres syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation
Cristini A et al.·Nat Commun
2022
Top 8 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools