POMT2 protein O-mannosyltransferase 2
Gene ID: 29954, updated on 17-Aug-2024Gene type: protein coding
Also known as: LGMD2N; MDDGA2; MDDGB2; MDDGC2; LGMDR14
- See all available tests in GTR for this gene
- Go to complete Gene record for POMT2
- Go to Variation Viewer for POMT2 variants
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
Genomic context
- Location:
- 14q24.3
- Sequence:
- Chromosome: 14; NC_000014.9 (77274956..77320883, complement)
- Total number of exons:
- 23
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for POMT2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- POMT2 homepage - Leiden Muscular Dystrophy pages
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.