TUBB8B

protein-coding

tubulin beta 8B, 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 several cellular components, including ciliary tip; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

TUBB8P12

MANE transcript

NM_001358689.2

Inheritance

—

ClinVar variants

B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.14

Max pathogenic AF

—

Genomic locus

chr18:47,221-73,545

External References & Databases

Ensembl (ENSG00000173213)

Transcript & Mutation Effects

hg38 • Region Span ~26.3 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TUBB8B variants in ClinVar

1 Conditions Cataloged

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001358689.2. 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				5 clinvar		5
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	5	0	5

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001358689.2	RefSeq	NP_001345618.1	4	MANE Select
ENST00000308911.9	Ensembl	ENSP00000496713.1	4	MANE Select
NM_001389609.1	RefSeq	NP_001376538.1	2	Standard
NM_001389610.1	RefSeq	NP_001376539.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000308911
Coding exons: 4
Length: 26321
Individuals with no LoFs: 125113
Homozygous LoFs: 0
Heterozygous LoFs: 20
Defined: 125133
p: 0.0000799

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.37	369	261	1.41	0.0000166	2850
Missense (PolyPhen)		139	108.65	1.2793		1304
Synonymous	-5.90	182	105	1.73	0.00000731	809
Loss of Function	-0.265	5	4.40	1.14	1.88e-7	51

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00099	0.00098	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP