EPB42 Back

erythrocyte membrane protein band 4.2

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NCBI Description of EPB42
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Community Annotation of EPB42 Add / Edit EPB42: 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

EPB42 is highly significantly mutated in
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EPB42 is significantly mutated in
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EPB42 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 EPB42