TUBA4B

tubulin alpha 4b, the group of Tubulins

Basic information

Region (hg38): 2:219253243-219272197

Previous symbols: [ "TUBA4" ]

Links

ENSG00000243910 ∙ NCBI:80086 ∙ ∙ HGNC:18637 ∙ Uniprot:Q9H853 ∙ 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 TUBA4B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBA4B 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	3	5	9
Total	0	0	1	3	5

Variants in TUBA4B

This is a list of pathogenic ClinVar variants found in the TUBA4B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-219253566-G-C		Ptosis	Uncertain significance (Mar 13, 2024)
2-219253758-A-G			Likely benign (Aug 17, 2018)
2-219253772-TC-T			Likely benign (Sep 16, 2018)
2-219253809-G-C			Benign (Jul 03, 2018)
2-219253950-CG-C			Benign (Aug 17, 2018)
2-219253950-C-CG			Benign (Aug 20, 2019)
2-219254033-G-T			Likely benign (Dec 24, 2018)
2-219254060-T-G			Benign (Aug 11, 2018)
2-219254253-G-T			Benign (Mar 19, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Parkin-Ubiquitin Proteasomal System pathway;stathmin and breast cancer resistance to antimicrotubule agents;downregulated of mta-3 in er-negative breast tumors;Metabolism of proteins;Chaperonin-mediated protein folding;Formation of tubulin folding intermediates by CCT/TriC;Protein folding;Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding;Post-chaperonin tubulin folding pathway (Consensus)

Haploinsufficiency Scores

• pHI: 0.136

Gene ontology

• Biological process: cytoskeleton organization;microtubule-based process;biological_process
• Cellular component: cellular_component;cytoplasm;microtubule
• Molecular function: molecular_function;GTPase activity;structural constituent of cytoskeleton;GTP binding