TUBB4B

Chr 9AD

tubulin beta 4B class IVb

Also known as: Beta2, LCAEOD, TUBB2, TUBB2C

NCBI Gene: 10383ENSG00000188229UniProt: P68371OMIM: 602660

TUBB4B encodes a beta-tubulin protein that forms heterodimers with alpha-tubulin to create microtubules, the structural components essential for cellular organization and mitotic spindle formation. Mutations cause Leber congenital amaurosis with early-onset deafness, a condition affecting vision from infancy and hearing in early childhood. This follows an autosomal dominant inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ADLOEUF 0.441 OMIM phenotype
Clinical Summary— TUBB4B
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Gene-Disease Validity (ClinGen)
TUBB4B-related ciliopathy · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.81) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint
0.44LOEUF
pLI 0.809
Z-score 3.00
OE 0.14 (0.06–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
4.50Z-score
OE missense 0.24 (0.20–0.29)
66 obs / 276.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.14 (0.06–0.44)
0≤0.351.4
Missense OE0.24 (0.20–0.29)
0≤0.61.4
Synonymous OE2.06
0≤1.21.6
LoF obs/exp: 2 / 14.2Missense obs/exp: 66 / 276.4Syn Z: -9.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUBB4B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Astragaloside IV targets TUBB4B to inhibit proliferation and promote apoptosis of pituitary tumor cells via the STMN1/ERK pathway.
Li J et al.·Int J Mol Med
2026Open Access
CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice.
Liu L et al.·Int J Biol Sci
2026Open Access
A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.
Zhang S et al.·Retin Cases Brief Rep
2026
Screening the composition of tubulin isotypes reveals the most abundant TUBB4B for ciliary polarity in ependymal cells.
Liu Y et al.·J Mol Cell Biol
2025
A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Cao LY et al.·Ophthalmic Genet
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients