TUBGCP3

Chr 13

tubulin gamma complex component 3

Also known as: 104p, ALP6, GCP3, Grip104, SPBC98, Spc98, Spc98p

NCBI Gene: 10426ENSG00000126216UniProt: Q96CW5

The TUBGCP3 protein is a component of the gamma-tubulin ring complex that mediates microtubule nucleation, which is critical for centrosome duplication and spindle formation during cell division. Mutations cause microcephaly and chorioretinopathy, autosomal recessive, an early-onset disorder affecting brain development and the retina. This gene is highly constrained against loss-of-function variants (LOEUF 0.35), reflecting its essential role in cellular processes.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
6
Pubs (1 yr)
119
P/LP submissions
0%
P/LP missense
0.35
LOEUF
—
Mechanism
Clinical Summary— TUBGCP3
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
📋
ClinVar Variants
119 unique Pathogenic / Likely Pathogenic· 107 VUS of 255 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.35LOEUF
pLI 0.455
Z-score 5.50
OE 0.22 (0.14–0.35)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.52Z-score
OE missense 0.69 (0.63–0.75)
353 obs / 513.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.22 (0.14–0.35)
0≤0.351.4
Missense OE0.69 (0.63–0.75)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 13 / 58.4Missense obs/exp: 353 / 513.4Syn Z: 0.76

ClinVar Variant Classifications

255 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic116
Likely Pathogenic3
VUS107
Likely Benign7
Benign2
116
Pathogenic
3
Likely Pathogenic
107
VUS
7
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
116
0
116
Likely Pathogenic
0
0
3
0
3
VUS
0
99
8
0
107
Likely Benign
0
3
1
3
7
Benign
0
0
2
0
2
Total01021303235

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

View in ClinVar →

Protein Context — Lollipop Plot

TUBGCP3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
A novel protein encoded by circTUBGCP3 blocks ferroptosis and promotes gastric cancer progression
Chang S et al.·J Biol Chem
2025
Transcriptomic analysis unveils critical genes governing early development and sex differentiation in the Cipangopaludina chinensis (Gastropoda: Viviparidae).
Wang C et al.·Comp Biochem Physiol Part D Genomics Proteomics
2025
Single-cell proteomics analysis of human oocytes during GV-to-MI transition.
Zhang Z et al.·Hum Reprod
2025
Pseudo-chromosome-length genome assembly for a deep-sea eel Ilyophis brunneus sheds light on the deep-sea adaptation.
Chen J et al.·Sci China Life Sci
2023
Physiological and molecular responses to different sizes of polystyrene micro/nanoplastics in the model unicellular eukaryote Paramecium tetraurelia.
Ni P et al.·J Hazard Mater
2025Functional
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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