TUBB6

protein-coding

tubulin beta 6 class V, the group of Tubulins

Gene summary

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032525.3

Inheritance

ClinVar variants

P:2U:52B:11

Top phenotype

Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD)

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr18:12,307,669-12,344,320

External References & Databases

Ensembl (ENSG00000176014)

Transcript & Mutation Effects

hg38 • Region Span ~36.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

facial palsy, congenital, with ptosis and velopharyngeal dysfunctionLIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0060589

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD)AD

Manifestation: Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 29016863

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TUBB6 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 45

Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionTotal: 6

TUBB6-related disorderTotal: 6

not providedTotal: 4

PtosisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032525.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	7 clinvar	2 clinvar	11
missense	1 clinvar	1 clinvar	49 clinvar	1 clinvar	1 clinvar	53
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	1	52	8	3	65

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032525.3	RefSeq	NP_115914.1	4	MANE Select
ENST00000317702.10	Ensembl	ENSP00000318697.4	4	MANE Select
NM_001303524.1	RefSeq	NP_001290453.1	4	Standard
NM_001303525.2	RefSeq	NP_001290454.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Phagosome - Homo sapiens (human)
Gap junction - Homo sapiens (human)
Pathogenic Escherichia coli infection - Homo sapiens (human)
Pathogenic Escherichia coli infection
Parkin-Ubiquitin Proteasomal System pathway

Biological Process

microtubule cytoskeleton organization
mitotic cell cycle
microtubule-based process

Molecular Function

molecular_function
GTPase activity
structural constituent of cytoskeleton
GTP binding

Cellular Component

nucleus
cytoplasm
microtubule
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000317702
Coding exons: 4
Length: 36652
Individuals with no LoFs: 125727
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 125748
p: 0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.64	171	299	0.571	0.0000225	2958
Missense (PolyPhen)		107	190.79	0.56084		1835
Synonymous	0.526	127	135	0.942	0.0000116	871
Loss of Function	1.46	8	13.9	0.577	6.05e-7	154

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00020	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000081	0.000079	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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. {ECO:0000250|UniProtKB:P02557}.;
Disease: DISEASE: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732]: An autosomal dominant congenital disorder characterized by non-progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis. {ECO:0000269|PubMed:29016863}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec: 0.249

Intolerance Scores

LoFtool: 0.287
RVIS EVS: -0.54
RVIS percentile EVS: 20.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.786

Gene Damage Prediction

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