SPTLC2 Back

serine palmitoyltransferase, long chain base subunit 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SPTLC2
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of SPTLC2 Add / Edit SPTLC2: Annotations

No community annotations yet for SPTLC2.
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

SPTLC2 is highly significantly mutated in
(none)
SPTLC2 is significantly mutated in
(none)
SPTLC2 is near significance in
(none)

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

Data details


• Mutation list for SPTLC2