SPTLC2 (serine palmitoyltransferase long chain base subunit 2)

2014-11-01  

Identity

HGNC
SPTLC2
LOCATION
14q24.3
LOCUSID
9517
ALIAS
HSN1C,LCB2,LCB2A,NSAN1C,SPT2,hLCB2a
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9517
MIM: 605713
HGNC: 11278
Ensembl: ENSG00000100596

Variants:

dbSNP: 9517
ClinVar: 9517
TCGA: ENSG00000100596
COSMIC: SPTLC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100596ENST00000216484O15270
ENSG00000100596ENST00000216484A0A024R6H1
ENSG00000100596ENST00000554901H0YJV2
ENSG00000100596ENST00000556607H0YJ96

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Ceramide biosynthesisKEGGM00094
Sphingosine biosynthesisKEGGM00099
Ceramide biosynthesisKEGGhsa_M00094
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

References

Pubmed IDYearTitleCitations
194168512009Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.75
209206662010Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.52
173310732007Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?36
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
236583862013Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.14
315096662019Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.9
122079342002Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.6
241752842013The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.6
265739202016The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.5
124451912002Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis.2

Citation

Dessen P

SPTLC2 (serine palmitoyltransferase long chain base subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74218/sptlc2