HM13 Back

histocompatibility (minor) 13

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NCBI Description of HM13

The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene.

Community Annotation of HM13 Add / Edit HM13: 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

HM13 is highly significantly mutated in
(none)
HM13 is significantly mutated in
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HM13 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 HM13