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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				8	4	12
missense			65	5	1	71
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	2	3
non coding					18	18
Total	0	0	65	13	23

Variants in TUBGCP5

This is a list of pathogenic ClinVar variants found in the TUBGCP5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-22999743-T-C			Benign (Jun 19, 2021)
15-22999824-C-T		not specified	Uncertain significance (Aug 22, 2023)
15-22999831-C-T		not specified	Uncertain significance (Mar 14, 2023)
15-22999854-G-A		not specified	Uncertain significance (Nov 09, 2024)
15-23000076-C-A			Benign (Jun 19, 2021)
15-23000270-A-G			Benign (Jun 19, 2021)
15-23000614-C-G		not specified	Uncertain significance (Sep 30, 2024)
15-23000625-T-C		not specified	Uncertain significance (May 13, 2024)
15-23000637-A-C		not specified	Uncertain significance (Dec 31, 2024)
15-23000647-C-T		not specified	Uncertain significance (Mar 21, 2024)
15-23000665-C-G		not specified	Uncertain significance (Sep 12, 2023)
15-23000669-T-C		not specified	Likely benign (Dec 04, 2024)
15-23003072-T-C			Likely benign (Dec 31, 2019)
15-23003095-T-C		not specified	Uncertain significance (Feb 26, 2025)
15-23003208-C-A			Benign (Jun 19, 2021)
15-23003264-T-C			Benign (Jun 19, 2021)
15-23003304-T-C			Benign (Jun 19, 2021)
15-23004148-T-G		not specified	Uncertain significance (Mar 29, 2023)
15-23005464-C-T		not specified	Uncertain significance (May 23, 2023)
15-23005480-C-T			Benign (May 16, 2018)
15-23005500-G-A		not specified	Uncertain significance (Sep 03, 2024)
15-23005503-G-T		not specified	Uncertain significance (May 15, 2024)
15-23005508-T-C		not specified	Uncertain significance (Aug 14, 2024)
15-23005536-C-T		not specified	Uncertain significance (Sep 03, 2024)
15-23005537-G-A			Likely benign (Apr 25, 2018)

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

• hipred: N
• hipred_score: 0.488

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

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