POMT2 protein O-mannosyltransferase 2

Gene ID: 29954, updated on 23-Nov-2023
Gene type: protein coding
Also known as: LGMD2N; MDDGA2; MDDGB2; MDDGC2; LGMDR14

Summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2N MedGen: C3150418OMIM: 613158GeneReviews: Not available	See labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MedGen: C4284790OMIM: 236670GeneReviews: Not available	See labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MedGen: C3150411OMIM: 613150GeneReviews: Not available	See labs
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MedGen: C3150416OMIM: 613156GeneReviews: Not available	See labs

Genomic context

Location:: 14q24.3

Sequence:: Chromosome: 14; NC_000014.9 (77274956..77320883, complement)

Total number of exons:: 23

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for POMT2 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
POMT2 homepage - Leiden Muscular Dystrophy pages
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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