POMT2

protein O-mannosyltransferase 2

2 disorders 1 untyped 1 no genetic record 14q24.3 gene with protein product

HGNC:19743 Monarch NCBI Gene 29954 ENSG00000009830 UniProt Q9UKY4 OMIM 607439

Aliases: LGMD2N.

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
Dystroglycanopathy	untyped Causative	mechanism: Defective alpha-dystroglycan O-mannosyl glycosylation subtype: MDDG2 (POMT2)
Lissencephaly Spectrum Disorders	no genetic record	mechanism: Neuronal Overmigration Across the Pial Boundary subtype: Cobblestone

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
myopathy caused by variation in POMT2 MONDO:0700071	AR	Definitive 2024-07-26	no dismech entry

Mechanism modules · computed from kb/

pial_basement_membrane_radial_glial_endfoot_failure via Dystroglycanopathy, Lissencephaly Spectrum Disorders named in the module itself

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