TUBB2A

tubulin beta 2A class IIa

2 disorders 1 no genetic record 1 causative 6p25.2 gene with protein product

HGNC:12412 Monarch NCBI Gene 7280 ENSG00000137267 UniProt Q13885 OMIM 615101

Previous symbols: TUBB, TUBB2. Aliases: dJ40E16.7.

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
TUBB2A/TUBB2B-related Cortical Malformation	causative de novo unknown	mechanism: Altered Beta-Tubulin (TUBB2A/TUBB2B) Function subtype: TUBB2A scoped to subtype: TUBB2A
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	no genetic record	mechanism: Selective Dysregulation of Endogenous NMD-Sensitive and uORF-Containing Transcripts

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
tubulinopathy MONDO:0100153	AD	Definitive 2023-01-05	no dismech entry

Mechanism modules · computed from kb/

microtubule_dependent_neuronal_migration_failure via TUBB2A/TUBB2B-related Cortical Malformation

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