TUBGCP2

Chr 10AR

tubulin gamma complex component 2

Also known as: ALP4, GCP-2, GCP2, Grip103, PAMDDFS, SPBC97, SPC97, Spc97p

NCBI Gene: 10844ENSG00000130640UniProt: Q9BSJ2OMIM: 617817

Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Involved in brain development and neuron migration. Located in centrosome. Implicated in pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizuresMIM #618737
AR
UniProtCortical dysplasia, complex, with other brain malformations 15
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 3.21
OE 0.47 (0.33–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.24Z-score
OE missense 0.85 (0.79–0.92)
491 obs / 574.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.33–0.68)
0≤0.351.4
Missense OE?0.85 (0.79–0.92)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 20 / 42.6Missense obs/exp: 491 / 574.7Syn Z: -0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUBGCP2 · 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 →

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