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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. [provided by RefSeq, Mar 2011]
SPTLC2 (Serine Palmitoyltransferase Long Chain Base Subunit 2) is a Protein Coding gene. Diseases associated with SPTLC2 include Neuropathy, Hereditary Sensory And Autonomic, Type Ic and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Sphingolipid signaling pathway and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity. An important paralog of this gene is SPTLC3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004758 | contributes_to serine C-palmitoyltransferase activity | TAS,IDA | 25332431 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO:0030170 | pyridoxal phosphate binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sphingolipid metabolism | ||
2 | Metabolism |
.40
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|
3 | Sphingolipid signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
GO:0006686 | sphingomyelin biosynthetic process | IEA | -- |
GO:0009058 | biosynthetic process | IEA | -- |
GO:0030148 | sphingolipid biosynthetic process | IDA,TAS | 19416851 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 16 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Serine | Investigational | Nutra | Agonist, Full agonist, Target | Weak endogenous glycine receptor agonist | 1156 | |
Coenzyme A | Investigational | Nutra | 0 | |||
Myriocin | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
hexadecanoyl-CoA |
|
|
||||
Palmityl-CoA |
|
1763-10-6 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPTLC2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SPTLC2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPTLC2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sptlc2 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPTLC2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sptlc2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPTLC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SPTLC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SPTLC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sptlc2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2338 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sptlc2b 31 |
|
OneToMany | |
sptlc2a 30 31 |
|
OneToMany | |||
Dr.16885 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007941 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | lace 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sptl-2 30 31 |
|
ManyToMany | |
F43H9.2a 32 |
|
|
|||
F43H9.2b 32 |
|
|
|||
T22G5.5 32 |
|
|
|||
sptl-3 31 |
|
ManyToMany | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D02134g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LCB2 30 31 33 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR127C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | LCB2 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.2016 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0928800 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.11007 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.2702 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.13752 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00447 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | lcb2 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.835 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637418 | Pathogenic: Hereditary sensory and autonomic neuropathy type IC; Charcot-Marie-Tooth disease | 77,555,325(-) | G/A | MISSENSE_VARIANT | |
639087 | Uncertain Significance: Hereditary sensory and autonomic neuropathy type IC | 77,518,156(-) | C/T | MISSENSE_VARIANT | |
639260 | Uncertain Significance: Hereditary sensory and autonomic neuropathy type IC | 77,576,902(-) | T/A | MISSENSE_VARIANT | |
642941 | Uncertain Significance: Hereditary sensory and autonomic neuropathy type IC | 77,521,442(-) | G/A | ||
647879 | Uncertain Significance: Hereditary sensory and autonomic neuropathy type IC | 77,579,082(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759998 | CNV | gain | 17122850 |
esv3309823 | CNV | mobile element insertion | 20981092 |
esv3340561 | CNV | insertion | 20981092 |
esv3358343 | CNV | insertion | 20981092 |
esv3635007 | CNV | loss | 21293372 |
esv7096 | OTHER | inversion | 19470904 |
nsv1051554 | CNV | loss | 25217958 |
nsv1053810 | CNV | gain | 25217958 |
nsv1118537 | CNV | duplication | 24896259 |
nsv832835 | CNV | gain | 17160897 |
nsv85432 | CNV | deletion | 16902084 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary sensory and autonomic, type ic |
|
|
hereditary sensory and autonomic neuropathy type 1 |
|
|
charcot-marie-tooth disease |
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|
charcot-marie-tooth disease/hereditary motor and sensory neuropathy |
|
|
hereditary sensory neuropathy |
|