OSTM1 Back

osteopetrosis associated transmembrane protein 1

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NCBI Description of OSTM1

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis.

Community Annotation of OSTM1 Add / Edit OSTM1: 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).


OSTM1 is highly significantly mutated in
OSTM1 is significantly mutated in
OSTM1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for OSTM1