PITPNM3 Back

PITPNM family member 3

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PITPNM3
This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of PITPNM3 Add / Edit PITPNM3: Annotations

No community annotations yet for PITPNM3.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

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

PITPNM3 is highly significantly mutated in
(none)
PITPNM3 is significantly mutated in
(none)
PITPNM3 is near significance in
(none)

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

Data details


• Mutation list for PITPNM3