POMT2

Gene Facts External Data Attribution

HGNC Symbol

POMT2 (HGNC:19743) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar

HGNC Name

protein O-mannosyltransferase 2

Gene type

protein-coding gene

Locus type

gene with protein product

Previous symbols

No previous names found

Alias symbols

LGMD2N

%HI

44.09(Read more about the DECIPHER Haploinsufficiency Index)

pLI

0(Read more about gnomAD pLI score)

LOEUF

0.95(Read more about gnomAD LOEUF score)

Cytoband

14q24.3

Genomic Coordinates

GRCh37/hg19:	chr14:77741299-77787226	NCBI Ensembl UCSC
GRCh38/hg38:	chr14:77274956-77320883	NCBI Ensembl UCSC

MANE Select Transcript

NM_013382.7 ENST00000261534.9 (Read more about MANE Select)

Function

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129). {ECO:0000269|PubMed:14699049, ECO:0000269|PubMed:28512129}. (Source: Uniprot)