SPTB Back

spectrin, beta, erythrocytic (includes spherocytosis, clinical type I)

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NCBI Description of SPTB
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described.

Community Annotation of SPTB Add / Edit SPTB: 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

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