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Sptlc2
Gene Detail
 Symbol
Name
ID
Sptlc2
serine palmitoyltransferase, long chain base subunit 2
MGI:108074
Synonyms LCB2
Feature Type protein coding gene
Genetic Map
Chromosome 12
41.52 cM, cytoband E
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr12:87305058-87388355 bp, - strand
From VEGA annotation of GRCm38

  83298 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:21610  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: 8-amino-7-oxononanoate synthase / 2-amino-3-ketobutyrate:CoA ligase
Gene Tree: Sptlc2

Human
homologs
Human Homolog SPTLC2, serine palmitoyltransferase, long chain base subunit 2
NCBI Gene ID 9517
neXtProt AC  NX_O15270
Human Synonyms  hLCB2a, HSN1C, LCB2, LCB2A, NSAN1C, SPT2
Human Chr (Location)  14q24.3; chr14:77505997-77616767 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SPTLC2
Mutations,
alleles, and
phenotypes
All mutations/alleles(323) : Gene trapped(318) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit abnormal liver and circulating shingolipid levels.
 
Human Diseases Modeled Using Mouse Sptlc2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Sptlc2 interacts with 458 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process biosynthetic process, ceramide biosynthetic process, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function catalytic activity, pyridoxal phosphate binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)    Images (13)
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(18)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(21) Genomic(1) cDNA(20)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000035626 (Evidence)
Ensembl Gene ModelENSMUSG00000021036 (Evidence)
Entrez Gene20773 (Evidence)
DFCITC1574583, TC1601342, TC1622205
DoTSDT.101219539, DT.101262170, DT.101356988, DT.491511, DT.94376211
NIA Mouse Gene IndexU034212
EC2.3.1.50
Consensus CDS ProjectCCDS26076.1
International Mouse Knockout Project StatusSptlc2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035626 VEGA Gene Model | MGI Sequence Detail 83298 C57BL/6J ±  kb
transcript OTTMUST00000091176 VEGA | MGI Sequence Detail 6710 Not Applicable 
polypeptide OTTMUSP00000050185 VEGA | MGI Sequence Detail 560 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(2) UniProt(6)
Polymorphisms SNPs within 2kb(348 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004839 Aminotransferase, class I/classII
InterPro IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
InterPro IPR015424 Pyridoxal phosphate-dependent transferase
InterPro IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
InterPro IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
Protein Ontology PR:000015597 serine palmitoyltransferase 2
References (Earliest) J:36511 Nagiec MM, et al., Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase. Gene. 1996 Oct 24;177(1-2):237-41
(Latest) J:208441 Bautista DM, et al., Why we scratch an itch: the molecules, cells and circuits of itch. Nat Neurosci. 2014 Feb;17(2):175-82
All references(54)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-37111, MGI:2144769

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory