POMT2 Back

protein-O-mannosyltransferase 2

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NCBI Description of POMT2

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). Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

Community Annotation of POMT2 Add / Edit POMT2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

POMT2 is highly significantly mutated in
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POMT2 is significantly mutated in
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POMT2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for POMT2