TUBA3C

tubulin alpha 3c, the group of Tubulins

Basic information

Region (hg38): 13:19173772-19181824

Previous symbols: [ "TUBA2" ]

Links

ENSG00000198033 ∙ NCBI:7278 ∙ OMIM:602528 ∙ HGNC:12408 ∙ Uniprot:P0DPH7 ∙ 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 TUBA3C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBA3C 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						0
missense			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	0

Variants in TUBA3C

This is a list of pathogenic ClinVar variants found in the TUBA3C region.

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

Position	Type	Phenotype	Significance	ClinVar
13-19173879-T-A		not specified	Uncertain significance (Apr 25, 2023)
13-19173889-C-G		not specified	Uncertain significance (May 30, 2023)
13-19173891-G-C		not specified	Uncertain significance (Dec 20, 2023)
13-19173924-T-G		not specified	Uncertain significance (Oct 29, 2021)
13-19173951-C-A		not specified	Uncertain significance (Apr 08, 2022)
13-19174098-C-T		not specified	Uncertain significance (Feb 06, 2023)
13-19174101-T-C		not specified	Uncertain significance (Jan 26, 2023)
13-19176967-C-T		not specified	Uncertain significance (Jan 31, 2022)
13-19176980-T-C		not specified	Uncertain significance (Dec 27, 2023)
13-19176994-G-A		not specified	Uncertain significance (Aug 21, 2023)
13-19177121-C-T		not specified	Uncertain significance (Feb 13, 2023)
13-19177148-C-T		not specified	Uncertain significance (Apr 10, 2023)
13-19177321-C-T		not specified	Uncertain significance (Aug 05, 2023)
13-19177342-C-T		not specified	Uncertain significance (Mar 31, 2024)
13-19177429-T-C		not specified	Uncertain significance (May 18, 2023)
13-19177454-C-T		not specified	Uncertain significance (Jan 30, 2024)
13-19177535-C-T		not specified	Uncertain significance (Apr 15, 2024)
13-19177589-G-C		not specified	Uncertain significance (Apr 09, 2024)
13-19177606-G-A		not specified	Uncertain significance (Mar 01, 2024)
13-19178260-G-A		not specified	Uncertain significance (Dec 15, 2023)
13-19179392-C-G		not specified	Uncertain significance (Mar 12, 2024)
13-19179442-A-G		not specified	Uncertain significance (Aug 11, 2022)
13-19179479-T-C		not specified	Uncertain significance (Feb 21, 2024)
13-19179508-C-T		not specified	Uncertain significance (Feb 10, 2022)
13-19179518-C-T		not specified	Uncertain significance (Mar 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TUBA3C	protein_coding	protein_coding	ENST00000400113	5	8083

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00457	0.968	125689	0	58	125747	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.78	204	289	0.706	0.0000195	2935
Missense in Polyphen		87	125.21	0.69485		1381
Synonymous	-2.78	162	123	1.32	0.00000918	913
Loss of Function	1.93	6	13.7	0.438	6.73e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000720	0.000720
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000185	0.000167
Middle Eastern	0.000489	0.000489
South Asian	0.000294	0.000294
Other	0.000655	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.
• Pathway: Tight junction - Homo sapiens (human);Phagosome - Homo sapiens (human);Gap junction - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Apoptosis - Homo sapiens (human);Pathogenic Escherichia coli infection;Parkin-Ubiquitin Proteasomal System pathway;stathmin and breast cancer resistance to antimicrotubule agents;downregulated of mta-3 in er-negative breast tumors;Post-translational protein modification;Metabolism of proteins;Chaperonin-mediated protein folding;Formation of tubulin folding intermediates by CCT/TriC;Carboxyterminal post-translational modifications of tubulin;Protein folding;Prefoldin mediated transfer of substrate to CCT/TriC;Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding;Post-chaperonin tubulin folding pathway (Consensus)

Recessive Scores

• pRec: 0.194

Intolerance Scores

• loftool: 0.398
• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.9

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.780

Gene Damage Prediction

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

Gene ontology

• Biological process: microtubule cytoskeleton organization;mitotic cell cycle;cytoskeleton organization;microtubule-based process
• Cellular component: cytoplasm;microtubule
• Molecular function: GTPase activity;structural constituent of cytoskeleton;GTP binding