MTMR2

myotubularin related protein 2

2 disorders 1 untyped 1 causative 11q21 gene with protein product

HGNC:7450 Monarch NCBI Gene 8898 ENSG00000087053 UniProt Q13614 OMIM 603557

Previous symbols: CMT4B. Aliases: KIAA1073.

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 Hypomyelinating Neuropathy	causative germline	mechanism: Myelination Gene Lesion in Developing Schwann Cells
Charcot-Marie-Tooth Disease Type 4	untyped Causal	mechanism: Myotubularin Phosphoinositide Dysregulation and Myelin Outfolding subtype: CMT4B1 scoped to subtype: CMT4B1

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
demyelinating hereditary motor and sensory neuropathy MONDO:0018776	AR	Definitive 2020-02-11	no dismech entry

Mechanism modules · computed from kb/

schwann_cell_myelin_maintenance via Charcot-Marie-Tooth Disease Type 4, Congenital Hypomyelinating Neuropathy

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