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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

HCOP human homology predictions: SPTLC2
Protein SuperFamily: 8-amino-7-oxononanoate synthase / 2-amino-3-ketobutyrate:CoA ligase
Gene Tree: Sptlc2

Human
homologs
SPTLC2, serine palmitoyltransferase, long chain base subunit 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 9517
neXtProt AC: NX_O15270

Human Synonyms: hLCB2a, HSN1C, LCB2, LCB2A, NSAN1C, SPT2

Human Chr (Location): 14q24.3; chr14:77505997-77616768 (-)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Sptlc2 (1)    Mutations 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: (3 records)
Data Summary: Results (94)    Tissues (94)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sptlc2    NEW 
Molecular
reagents
All nucleic(21) Genomic(1) cDNA(20)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000035626 (Evidence)
Ensembl Gene Model ENSMUSG00000021036 (Evidence)
Entrez Gene 20773 (Evidence)
DFCI TC1574583, TC1601342, TC1622205
DoTS DT.101219539, DT.101262170, DT.101356988, DT.491511, DT.94376211
NIA Mouse Gene Index U034212
EC 2.3.1.50
Consensus CDS Project CCDS26076.1
International Mouse Phenotyping Consortium Status Sptlc2
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:216600 Lau CG, et al., Morphology-based mammalian stem cell tests reveal potential developmental toxicity of donepezil. Mol Reprod Dev. 2014 Nov;81(11):994-1008
All references(55)
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
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory