TUBGCP5

Chr 15

tubulin gamma complex component 5

Also known as: GCP5

NCBI Gene: 114791 ENSG00000275835 UniProt: Q96RT8 OMIM: 608147

The protein is a component of the gamma-tubulin ring complex that mediates microtubule nucleation at centrosomes, which is critical for centrosome duplication and spindle formation during cell division. Mutations cause autosomal recessive microcephaly, seizures, and developmental delay, with this gene being extremely intolerant to loss-of-function variants. The condition affects brain development and neurological function from early life.

OMIM ResearchSummary from RefSeq, UniProt

Enables microtubule binding activity. Involved in microtubule nucleation. Located in centrosome. Part of gamma-tubulin ring complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.67LOEUF

pLI 0.000

Z-score 3.63

OE 0.50 (0.37–0.67)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.37Z-score

OE missense 0.83 (0.77–0.90)

456 obs / 546.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.50 (0.37–0.67)

0≤0.351.4

Missense OE?0.83 (0.77–0.90)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 30 / 60.5Missense obs/exp: 456 / 546.1Syn Z: -0.85

Background carrier burden — how many people carry a rare variant somewhere in TUBGCP5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 54

1,293 rare PASS variants

Rare truncating (LoF)

1 in 710

254 rare PASS variants

Rare synonymous (reference)

1 in 86

495 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TUBGCP5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 61	1 in 760
South Asian	~43k	1 in 64	1 in 900
Remaining (unassigned)	~30k	1 in 46	1 in 1,400
European (Finnish)	~27k	1 in 120	1 in 530
Admixed American	~22k	1 in 43	1 in 640
African / African American	~21k	1 in 47	1 in 570
East Asian	~20k	1 in 67	1 in 330
Ashkenazi Jewish	~13k	1 in 230	1 in 1,600
Middle Eastern	~2,884	1 in 50	≈ 1 in 710

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 20 of 23 coding exons well covered in gnomAD exomes; exons 1, 4, 9 marginal. Genomes: all 23.? see exons ↓