TUBB2B

Chr 6AD

tubulin beta 2B class IIb

Also known as: CDCBM7, PMGYSA, bA506K6.1

NCBI Gene: 347733ENSG00000137285UniProt: Q9BVA1OMIM: 612850

The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cortical dysplasia, complex, with other brain malformations 7MIM #610031
AD

Clinical highlights

Gene-disease validity (ClinGen)
complex cortical dysplasia with other brain malformations · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.22
LOEUF· LoF intol.
DN*
Mechanism· G2P
📖
GeneReview available — TUBB2B
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.22LOEUF
pLI 0.988
Z-score 3.40
OE 0.00 (0.00–0.22)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
5.12Z-score
OE missense 0.11 (0.08–0.15)
30 obs / 264.1 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.22)
0≤0.351.4
Missense OE?0.11 (0.08–0.15)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 0 / 13.4Missense obs/exp: 30 / 264.1Syn Z: 1.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUBB2B · protein map & ClinVar variants

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

VCEP specificationsBrain MalformationsReleased
Specifications ↗Panel ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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