Gene table of SPTLC2 : serine palmitoyltransferase long chain base subunit 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with SPTLC2OMIM linkNumber of associated genesgenes
PS162400HEREDITARY SENSORY AND AUTONOMIC NEUROPATHYClinVar, OMIM, HUMSAVAR link to OMIM 14DST, WNK1, NTRK1, PRDM12, DNMT1, IKBKAP, FAM134B, NGF, ATL1, KIF1A, SCN11A, ATL3, SPTLC2, SPTLC1

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Annotation of the gene SPTLC2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Sphingolipid metabolismhsa006007.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Sphingolipid metabolismR-HSA-4281576.79
MetabolismR-HSA-14307282.34
Sphingolipid de novo biosynthesisR-HSA-16606617.98
Associated GO terms for Molecular function
GO termGO IDGO IC
anion bindingGO:00431684.17
serine C-palmitoyltransferase activityGO:00047588.13
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
cofactor bindingGO:00480374.16
bindingGO:00054880.18
transferase activity, transferring acyl groupsGO:00167464.2
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37
palmitoyltransferase activityGO:00164096.15
C-acyltransferase activityGO:00164087.1
C-palmitoyltransferase activityGO:00164548.13
pyridoxal phosphate bindingGO:00301705.83