Home > Gene Browser > TUBGCP4

TUBGCP4

Synonyms
76P, GCP-4, GCP4, Grip76, MCCRP3
External resources
Summary
This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
14
Likely pathogenic
3
VUS
4,298
Likely benign
1,554
Benign
217

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on TUBGCP4 gene are displayed below. The following symptoms were found in patients with a variant in TUBGCP4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of the nervous system
37.5%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of blood and blood forming tissues
12.5%
Abnormality of the immune system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
6.3%
Abnormality of limbs
6.3%
Abnormality of metabolism homeostasis
6.3%
Abnormality of prenatal development or birth
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the ear
6.3%
Abnormality of the respiratory system
6.3%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.