TUBGCP5

tubulin gamma complex associated protein 5, the group of Tubulin gamma complex associated protein family

Basic information

Region (hg38): 15:22983192-23039572

Links

ENSG00000275835

∙ NCBI:114791 ∙ OMIM:608147 ∙ HGNC:18600 ∙ Uniprot:Q96RT8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TUBGCP5 gene.

not_specified (114 variants)
not_provided (19 variants)
Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBGCP5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052903.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				9 clinvar	4 clinvar	13
missense			113 clinvar	5 clinvar	1 clinvar	119
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	14	5

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.;
Pathway: Prader-Willi and Angelman Syndrome;Recruitment of mitotic centrosome proteins and complexes;Centrosome maturation;G2/M Transition;Mitotic G2-G2/M phases;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

pRec: 0.116

Intolerance Scores

loftool: 0.961
rvis_EVS: -0.77
rvis_percentile_EVS: 13.15

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.488
ghis

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.917

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Tubgcp5
Phenotype

Gene ontology

Biological process: mitotic cell cycle;microtubule nucleation;cytoplasmic microtubule organization;spindle assembly;meiotic cell cycle;microtubule nucleation by interphase microtubule organizing center
Cellular component: spindle pole;equatorial microtubule organizing center;gamma-tubulin complex;centrosome;cytosol;microtubule;gamma-tubulin ring complex
Molecular function: microtubule binding;gamma-tubulin binding;microtubule minus-end binding