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Sptlc2 Gene Detail
Summary
  • Symbol
    Sptlc2
  • Name
    serine palmitoyltransferase, long chain base subunit 2
  • Synonyms
    LCB2, Spt2
  • Feature Type
    protein coding gene
  • IDs
    MGI:108074
    NCBI Gene: 20773
  • Gene Overview
    MyGene.info: SPTLC2
Location & Maps
more
  • Sequence Map
    Chr12:87305058-87388355 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      83298 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 41.52 cM, cytoband E
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SPTLC2, serine palmitoyltransferase long chain base subunit 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SPTLC2, serine palmitoyltransferase long chain base subunit 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    hLCB2a, HSN1C, LCB2, LCB2A, NSAN1C, SPT2
  • Links
    NCBI Gene ID: 9517
    neXtProt AC: NX_O15270

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

Human Diseases
more
  • Diseases
    1 with Sptlc2 mouse models; 1 with human SPTLC2 associations

Human Disease Mouse Models
       Psoriasis 1, Susceptibility To; PSORS1   OMIM: 177900 View 1 model
       Neuropathy, Hereditary Sensory and Autonomic, Type Ic; HSAN1C   OMIM: 613640
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    60 phenotypes from 3 alleles in 4 genetic backgrounds
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    324
  • Chemically induced (other)
    1
  • Gene trapped
    318
  • Targeted
    5
  • Genomic Mutations
    1 involving Sptlc2
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit abnormal liver and circulating shingolipid levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    347 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000015597 serine palmitoyltransferase 2
  • EC
  • InterPro Domains
    IPR004839 Aminotransferase, class I/classII
    IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
    IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
Molecular
Reagents
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  • All nucleic 23
    Genomic 1
    cDNA 21
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-37111, MGI:2144769
References
more
  • Summaries
    All 57
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 9
    Phenotypes 24
  • 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:230265 Kim YK, et al., Tissue- and sex-specific effects of beta-carotene 15,15' oxygenase (BCO1) on retinoid and lipid metabolism in adult and developing mice. Arch Biochem Biophys. 2015 Apr 15;572:11-8

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
09/20/2016
MGI 6.05
The Jackson Laboratory