TUBB2B

tubulin beta 2B class IIb

3 disorders 2 causative 1 untyped 6p25.2 gene with protein product

HGNC:30829 Monarch NCBI Gene 347733 ENSG00000137285 UniProt Q9BVA1 OMIM 612850

Aliases: MGC8685, DKFZp566F223, bA506K6.1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Fibrosis of the Extraocular Muscles	causative germline	mechanism: Beta-Tubulin Microtubule Dysfunction in Cranial Motor Neurons
TUBB2A/TUBB2B-related Cortical Malformation	causative de novo unknown	mechanism: Altered Beta-Tubulin (TUBB2A/TUBB2B) Function subtype: TUBB2B scoped to subtype: TUBB2B
Uner Tan Syndrome	untyped Causative germline unknown	mechanism: TUBB2B p.Arg390Gln-Associated Microtubule-Function Perturbation

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
complex cortical dysplasia with other brain malformations MONDO:0000904	AD	Definitive 2020-04-26	no dismech entry

Mechanism modules · computed from kb/

microtubule_dependent_neuronal_migration_failure via TUBB2A/TUBB2B-related Cortical Malformation named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.