TUBGCP5

Chr 15

tubulin gamma complex component 5

Also known as: GCP5

NCBI Gene: 114791ENSG00000275835UniProt: Q96RT8

Enables microtubule binding activity. Involved in microtubule nucleation. Located in centrosome; ciliary basal body; and cytosol. Part of gamma-tubulin ring complex. [provided by Alliance of Genome Resources, Jul 2025]

507
ClinVar variants
211
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TUBGCP5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
211 Pathogenic / Likely Pathogenic· 208 VUS of 507 total submissions

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.
0.67LOEUF
pLI 0.000
Z-score 3.63
OE 0.50 (0.37–0.67)
Tolerant

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.
1.37Z-score
OE missense 0.83 (0.77–0.90)
456 obs / 546.1 exp
Tolerant

Mild missense constraint

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 (0.37–0.67)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.77–0.90)
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.1.08
0≤1.21.6
LoF obs/exp: 30 / 60.5Missense obs/exp: 456 / 546.1Syn Z: -0.85

ClinVar Variant Classifications

507 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic199
Likely Pathogenic12
VUS208
Likely Benign24
Benign48
Conflicting16
199
Pathogenic
12
Likely Pathogenic
208
VUS
24
Likely Benign
48
Benign
16
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
199
0
199
Likely Pathogenic
0
0
12
0
12
VUS
0
129
79
0
208
Likely Benign
0
5
10
9
24
Benign
0
1
42
5
48
Conflicting
—16
Total013534214507

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

View in ClinVar →

Protein Context — Lollipop Plot

TUBGCP5 · 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
Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.
Butler MG·Int J Mol Sci
2023Review
The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Cox DM et al.·Int J Mol Sci
2015Review
Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.
Butler MG·J Intellect Disabil Res
2017Review
Advances in genetic mechanisms of hypothalamic dysfunction in Prader-Willi syndrome.
Wang XY et al.·Yi Chuan
2022Review
Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications.
Basarir G et al.·J Child Neurol
2025
Magnesium Supplement and the 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: A Potential Treatment?
Butler MG·Int J Mol Sci
2019Review
The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.
Rafi SK et al.·Int J Mol Sci
2020Review
Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.
Chen CP et al.·Taiwan J Obstet Gynecol
2017Case report
Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.
Maver A et al.·Eur J Med Genet
2019Case report
Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.
De Wolf V et al.·Am J Med Genet A
2013Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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