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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:87305058-87388355 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 41.52 cM, cytoband E
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    347 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108074
protein coding gene Chr12:87305058-87388355 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019986
protein coding gene Chr12:88208344-88295571 (-)
A/J MGP_AJ_G0019944
protein coding gene Chr12:84857053-84941107 (-)
AKR/J MGP_AKRJ_G0019919
protein coding gene Chr12:87163806-87243070 (-)
BALB/cJ MGP_BALBcJ_G0019923
protein coding gene Chr12:85188803-85272224 (-)
C3H/HeJ MGP_C3HHeJ_G0019729
protein coding gene Chr12:87651920-87736523 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020375
protein coding gene Chr12:90750780-90838783 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017993
protein coding gene Chr12:81737004-81820672 (-)
CAST/EiJ MGP_CASTEiJ_G0019279
protein coding gene Chr12:82684364-82772097 (-)
CBA/J MGP_CBAJ_G0019701
protein coding gene Chr12:94218466-94301017 (-)
DBA/2J MGP_DBA2J_G0019814
protein coding gene Chr12:84352236-84436798 (-)
FVB/NJ MGP_FVBNJ_G0019801
protein coding gene Chr12:83346232-83429760 (-)
LP/J MGP_LPJ_G0019888
protein coding gene Chr12:88085580-88171504 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019840
protein coding gene Chr12:96985583-97071008 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020407
protein coding gene Chr12:86787075-86872400 (-)
PWK/PhJ MGP_PWKPhJ_G0019043
protein coding gene Chr12:78908808-78996323 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018838
protein coding gene Chr12:81300620-81381264 (-)
WSB/EiJ MGP_WSBEiJ_G0019332
protein coding gene Chr12:87564623-87650632 (-)



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: HGNC, HomoloGene
  • Synonyms
    hLCB2a, HSN1C, LCB2, LCB2A, NSAN1C, SPT2
  • Links
    NCBI Gene ID: 9517
    neXtProt AC: NX_O15270
    UniProt: O15270

  • Chr Location
    14q24.3; chr14:77505997-77616767 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    60 phenotypes from 3 alleles in 4 genetic backgrounds
    27 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20773 NCBI Gene Model | MGI Sequence Detail 83298 C57BL/6J ±  kb
    transcript NM_011479 RefSeq | MGI Sequence Detail 6725 C57BL/6  
    polypeptide P97363 UniProt | EBI | MGI Sequence Detail 560 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • 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
      IPR015422 Pyridoxal phosphate-dependent transferase domain 1
      IPR015421 Pyridoxal phosphate-dependent transferase, major domain
    Molecular
    Reagents
    less
    • All nucleic 24
      Genomic 1
      cDNA 22
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-37111, MGI:2144769
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 9
      Phenotypes 27
    • Earliest
      J:20131 Kerr SM, et al., Analysis of cDNA sequences from mouse testis. Mamm Genome. 1994 Sep;5(9):557-65
    • Latest
      J:247919 Lee SY, et al., Adipocyte-Specific Deficiency of De Novo Sphingolipid Biosynthesis Leads to Lipodystrophy and Insulin Resistance. Diabetes. 2017 Oct;66(10):2596-2609

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory