TUBGCP4

Chr 15AR

tubulin gamma complex component 4

Also known as: 76P, GCP-4, GCP4, Grip76, MCCRP3

NCBI Gene: 27229ENSG00000137822UniProt: Q9UGJ1OMIM: 609610

This gene encodes a component of the gamma-tubulin ring complex that mediates microtubule nucleation at centrosomes, which is critical for centrosome duplication and spindle formation. Mutations cause microcephaly and chorioretinopathy, autosomal recessive, 3, affecting brain development and the retina. The gene shows high constraint against loss-of-function variants (LOEUF 0.716) and follows autosomal recessive inheritance.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.721 OMIM phenotype
Clinical Summary— TUBGCP4
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
35 unique Pathogenic / Likely Pathogenic· 96 VUS of 420 total submissions
Explore recent and relevant literature in Research Assistant →
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.72LOEUF
pLI 0.000
Z-score 3.03
OE 0.50 (0.35–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
2.58Z-score
OE missense 0.62 (0.56–0.69)
227 obs / 365.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.50 (0.35–0.72)
0≤0.351.4
Missense OE0.62 (0.56–0.69)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 21 / 42.2Missense obs/exp: 227 / 365.8Syn Z: 0.42
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongTUBGCP4-related microcephaly with chorioretinopathyLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.5870th %ile
GOF
0.6542th %ile
LOF
0.2970th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

420 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic9
VUS96
Likely Benign240
Benign39
Conflicting2
26
Pathogenic
9
Likely Pathogenic
96
VUS
240
Likely Benign
39
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
0
7
0
26
Likely Pathogenic
6
0
2
1
9
VUS
1
85
8
2
96
Likely Benign
0
1
137
102
240
Benign
0
0
38
1
39
Conflicting
—2
Total2686192106412

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

View in ClinVar →

Protein Context — Lollipop Plot

TUBGCP4 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 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