Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SPTLC2 Gene

protein-coding   GIFtS: 67
GCID: GC14M077973

Serine Palmitoyltransferase, Long Chain Base Subunit 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Serine Palmitoyltransferase, Long Chain Base Subunit 21 2     SPT22 5
LCB22 3 5     KIAA05263 5
Long Chain Base Biosynthesis Protein 2a2 3     LCB2A2
Serine-Palmitoyl-CoA Transferase 22 3     hLCB2a2
LCB 22 3     Serine Palmitoyltransferase 22
SPT 22 3     Serine Palmitoyltransferase, Subunit II2
EC 2.3.1.503 8     LCB2a3
HSN1C2 5     Long Chain Base Biosynthesis Protein 23
NSAN1C2 5     EC 2.3.18

External Ids:    HGNC: 112781   Entrez Gene: 95172   Ensembl: ENSG000001005967   OMIM: 6057135   UniProtKB: O152703   

Export aliases for SPTLC2 gene to outside databases

Previous GC identifers: GC14M075479 GC14M071790 GC14M075963 GC14M077043 GC14M058139


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for SPTLC2 Gene:
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)

GeneCards Summary for SPTLC2 Gene:
SPTLC2 (serine palmitoyltransferase, long chain base subunit 2) is a protein-coding gene. Diseases associated with SPTLC2 include hereditary sensory and autonomic neuropathy type ic, and neuropathy, hereditary sensory and autonomic, type ia. GO annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity. An important paralog of this gene is SPTLC3.

UniProtKB/Swiss-Prot: SPTC2_HUMAN, O15270
Function: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic
core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The
SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB
complex displays a preference for C18-CoA substrate

Gene Wiki entry for SPTLC2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPTLC2 gene promoter:
         STAT1   LHX3b/Lhx3b   C/EBPbeta   Elk-1   Pax-6   C/EBPalpha   RORalpha1   LHX3a/Lhx3a   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPTLC2 promoter sequence
   Search Chromatin IP Primers for SPTLC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTLC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

SPTLC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTLC2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M077973:  view genomic region     (about GC identifiers)

Start:
77,972,340 bp from pter      End:
78,083,116 bp from pter
Size:
110,777 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SPTC2_HUMAN, O15270 (See protein sequence)
Recommended Name: Serine palmitoyltransferase 2  
Size: 562 amino acids; 62924 Da
Cofactor: Pyridoxal phosphate (By similarity)
Subunit: Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of
LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB)
Sequence caution: Sequence=BAA25452.2; Type=Erroneous initiation;
Secondary accessions: Q16685

Explore the universe of human proteins at neXtProt for SPTLC2: NX_O15270

Explore proteomics data for SPTLC2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys161
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SPTLC2 (O15270) (see all 16)
     DSPVVPL  VINMGSYN  SDELNHAS  LFGYLRDF 


    See SPTLC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004854.1  
    ENSEMBL proteins: 
     ENSP00000216484   ENSP00000451029   ENSP00000452189  
    Reactome Protein details: O15270

    SPTLC2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SPTLC2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SPTLC2
    GenScript Custom Purified and Recombinant Proteins Services for SPTLC2
    Novus Biologicals SPTLC2 Proteins
    Novus Biologicals SPTLC2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPTLC2

    SPTLC2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SPTLC2
    OriGene Custom Antibody Services for SPTLC2
    Novus Biologicals SPTLC2 Antibodies
    Abcam antibodies for SPTLC2
    Cloud-Clone Corp. Antibodies for SPTLC2
    ThermoFisher Antibody for SPTLC2
    LSBio Antibodies in human, mouse, rat for SPTLC2

    SPTLC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPTLC2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPTLC2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPTLC2
    Cloud-Clone Corp. CLIAs for SPTLC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    5 InterPro protein domains:
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR001917 Aminotrans_II_pyridoxalP_BS
     IPR015421 PyrdxlP-dep_Trfase_major_sub1
     IPR015422 PyrdxlP-dep_Trfase_major_sub2

    Graphical View of Domain Structure for InterPro Entry O15270

    ProtoNet protein and cluster: O15270

    1 Blocks protein domain: IPB001917 Aminotransferase

    UniProtKB/Swiss-Prot: SPTC2_HUMAN, O15270
    Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family


    SPTLC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPTC2_HUMAN, O15270
    Function: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic
    core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The
    SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB
    complex displays a preference for C18-CoA substrate
    Catalytic activity: Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2)

         Enzyme Numbers (IUBMB): EC 2.3.1.501 2 EC 2.3.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004758serine C-palmitoyltransferase activity IDA19416851
    GO:0030170pyridoxal phosphate binding IEA--
         
    SPTLC2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPTLC2:
     Increased cell number in G1, a 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sptlc2):
     cellular  digestive/alimentary  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging 

    SPTLC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sptlc2tm1Jia for SPTLC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPTLC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPTLC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPTLC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPTLC2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SPTLC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPTLC2 (see all 79):
    hsa-miR-199a-3p hsa-miR-218-1* hsa-miR-128 hsa-miR-134 hsa-miR-30d hsa-miR-3921 hsa-miR-30a hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPTLC2
    Predesigned siRNA for gene silencing in human, mouse, rat SPTLC2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPTLC2

    Clone
    Products:
         
    OriGene clones in human, mouse for SPTLC2 (see all 6)
    OriGene ORF clones in mouse, rat for SPTLC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPTLC2 (NM_004863)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTLC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SPTLC2
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPTLC2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SPTC2_HUMAN, O15270: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion3
    cytosol2
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0017059serine C-palmitoyltransferase complex IDA19416851

    SPTLC2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for SPTLC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.61
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3ceramide de novo biosynthesis
    ceramide de novo biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SPTLC2
        Sphingolipid Metabolism
    ceramide de novo biosynthesis

    1 Reactome Pathway for SPTLC2
        Sphingolipid de novo biosynthesis


    2 Kegg Pathways  (Kegg details for SPTLC2):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SPTC2_HUMAN, O15270
    Pathway: Lipid metabolism; sphingolipid metabolism


    SPTLC2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPTLC2
    Interactions:

        Search GeneGlobe Interaction Network for SPTLC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SPTLC2 (O152703 ENSP000002164844) via UniProtKB, MINT, STRING, and/or I2D (see all 97)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    HIST1H2BIP628073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006686sphingomyelin biosynthetic process IEA--
    GO:0009058biosynthetic process ----
    GO:0030148sphingolipid biosynthetic process TAS19416851
    GO:0044281small molecule metabolic process TAS--

    SPTLC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPTLC2 (SPTC2)

    6 HMDB Compounds for SPTLC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    L-Serine(-)-Serine (see all 26)56-45-1--
    Palmityl-CoAPalmityl-CoA (see all 13)1763-10-6--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    2 DrugBank Compounds for SPTLC2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor11726713 11171191 12782147 11781309 11279212
    L-Serine(-)-Serine (see all 11)56-45-1target--17559874

    3 Novoseek inferred chemical compound relationships for SPTLC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucosylceramide 73.8 1 15679111 (1)
    serine 71.1 8 12207934 (2), 17290222 (1), 8921873 (1), 15679111 (1) (see all 6)
    ceramide 69.8 3 8921873 (1), 20208441 (1)



    SPTLC2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SPTLC2 gene: 
    NM_004863.3  

    Unigene Cluster for SPTLC2:

    Serine palmitoyltransferase, long chain base subunit 2
    Hs.435661  [show with all ESTs]
    Unigene Representative Sequence: NM_004863
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216484(uc001xub.3) ENST00000556607 ENST00000554901 ENST00000554365
    ENST00000556264 ENST00000557566
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPTLC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPTLC2 (see all 79):
    hsa-miR-199a-3p hsa-miR-218-1* hsa-miR-128 hsa-miR-134 hsa-miR-30d hsa-miR-3921 hsa-miR-30a hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPTLC2
    Predesigned siRNA for gene silencing in human, mouse, rat SPTLC2
    Clone
    Products:
         
    OriGene clones in human, mouse for SPTLC2 (see all 6)
    OriGene ORF clones in mouse, rat for SPTLC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPTLC2 (NM_004863)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTLC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SPTLC2
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTLC2
      QuantiTect SYBR Green Assays in human, mouse, rat SPTLC2
      QuantiFast Probe-based Assays in human, mouse, rat SPTLC2

    Additional mRNA sequence: 

    AB011098.1 BC005123.2 U15555.1 Y08686.1 

    10 DOTS entries:

    DT.453015  DT.120782936  DT.116842  DT.86854487  DT.86854488  DT.95105704  DT.86857931  DT.91748671 
    DT.120782948  DT.91836960 

    Selected AceView cDNA sequences (see all 284):

    BM990439 AW517866 AW069552 BF000074 AB011098 AL707737 AW157219 BE219022 
    AA642946 Z38800 W93177 N93642 AA256515 CA945105 BF939455 BM831789 
    BQ025633 AA761787 Y08686 AI079531 BM772247 NM_004863 BM831362 AI862158 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SPTLC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGCCAAAA
    SPTLC2 Expression
    About this image


    SPTLC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Colon (Gastrointestinal Tract)
    SPTLC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPTLC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435661

    UniProtKB/Swiss-Prot: SPTC2_HUMAN, O15270
    Tissue specificity: Widely expressed

        Custom PCR Arrays for SPTLC2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SPTLC2
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTLC2
    QuantiTect SYBR Green Assays in human, mouse, rat SPTLC2
    QuantiFast Probe-based Assays in human, mouse, rat SPTLC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPTLC2 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptlc21 , 5 serine palmitoyltransferase, long chain base subunit more1, 5 90.83(n)1
    96.43(a)1
      12 (41.52 cM)5
    207731  NM_011479.31  NP_035609.11 
     873050585 
    chicken
    (Gallus gallus)
    Aves SPTLC21 serine palmitoyltransferase, long chain base subunit more 79.5(n)
    89.21(a)
      423379  NM_001006483.2  NP_001006483.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPTLC26
    serine palmitoyltransferase, long chain base subun...
    88(a)
    1 ↔ 1
    1(20565013-20627574)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.23382 Xenopus laevis transcribed sequence with moderate similarity more 76.4(n)    BU903829.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.168852 Danio rerio cDNA clone IMAGE3816160, partial cds 77.48(n)    BC056779.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lace1 , 3 serine C-palmitoyltransferase3
    lace1
    56(a)3
    59(n)1
    57.53(a)1
      35D23
    349101  NM_057266.41  NP_476614.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F43H9.2a3
    sptl-21
    serine palmtoyltransferase3
    sptl-21
    55(a)
    (best of 3)3
    57.79(n)1
    55.33(a)1
      V(8021762-8024171)3
    2666461  NM_072664.41  NP_505065.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB2(YDR062W)4
    LCB21
    Component of serine palmitoyltransferase, responsible more4
    LCB21
    53.31(n)1
    48.47(a)1
      4(576474-578159)4
    8516341, 4  NP_010347.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LCB21 LCB2 56.59(n)
    53.56(a)
      832432  NM_122272.3  NP_197756.1 
    rice
    (Oryza sativa)
    Liliopsida NM_190004.12   -- 73.52(n)    NM_190004.1 


    ENSEMBL Gene Tree for SPTLC2 (if available)
    TreeFam Gene Tree for SPTLC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for SPTLC2 gene
    SPTLC32  
    1 SIMAP similar gene for SPTLC2 using alignment to 4 protein entries:     SPTC2_HUMAN (see all proteins):
    SPTLC3

    SPTLC2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SPTLC2
    PGOHUM00000243459


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SPTLC2 (see all 2934)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0647984
    Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C)4--see VAR_0647982 V M mis40--------
    VAR_0648004
    Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C)4--see VAR_0648002 I F mis40--------
    VAR_0647994
    Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C)4--see VAR_0647992 G V mis40--------
    VAR_0695254
    Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C)4--see VAR_0695252 A P mis40--------
    rs1892749231,2
    --58145295(+) TCAAGC/TGATCC 1 -- int10--------
    rs71551811,2
    C,F,A--58145323(+) AAGTGC/TTGGGA 1 -- int17Minor allele frequency- T:0.14NA WA CSA 14
    rs1922497551,2
    --58145341(+) CGTAAA/GCCAAC 1 -- int10--------
    rs342949321,2
    C--58157900(+) AAAAA-/AGAAAA 1 -- int10--------
    rs726832501,2
    C--58159928(+) GCCATG/ACATGT 1 -- int11Minor allele frequency- A:0.50NA 2
    rs726832511,2
    C--58159929(+) CCATGG/CATGTA 1 -- int11Minor allele frequency- C:0.50NA 2

    HapMap Linkage Disequilibrium report for SPTLC2 (77972340 - 78083116 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SPTLC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv274095CNV Insertion20981092
    esv267469CNV Insertion20981092
    nsv85432CNV Loss16902084
    nsv832835CNV Gain17160897
    dgv643e1CNV Complex17122850
    esv7096OTHER Inversion19470904

    Human Gene Mutation Database (HGMD): SPTLC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTLC2
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTLC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 605713   
    OMIM disorders: 613640  
    UniProtKB/Swiss-Prot: SPTC2_HUMAN, O15270
  • Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]: A form of hereditary sensory and
    autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration
    of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of
    motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections,
    osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and
    severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and
    osteomyelitis, and distal muscle weakness. Note=The disease is caused by mutations affecting the gene represented
    in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the
    alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of
    1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386)

  • 15 diseases for SPTLC2:    
    About MalaCards
    hereditary sensory and autonomic neuropathy type ic    neuropathy, hereditary sensory and autonomic, type ia    hereditary sensory neuropathy    autonomic neuropathy
    neuropathy    autonomic dysfunction    osteomyelitis    peripheral neuropathy
    labyrinthitis    tuberculosis    pancreatitis    multiple myeloma
    myeloma    cerebritis    malaria

    1 disease from the University of Copenhagen DISEASES database for SPTLC2:
    Peripheral neuropathy

    SPTLC2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SPTLC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuropathy, hereditary sensory, type i 90.9 1 11781309 (1)
    sensory neuropathy hereditary 86.5 2 12207934 (1)

    Genetic Association Database (GAD): SPTLC2
    Human Genome Epidemiology (HuGE) Navigator: SPTLC2 (1 document)

    Export disorders for SPTLC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for SPTLC2 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with SPTLC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase. (PubMed id 8921873)1, 2, 3, 9 Nagiec M.M.... Dickson R.C. (Gene 1996)
    2. Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis. (PubMed id 9363775)1, 2, 3, 9 Weiss B. and Stoffel W. (Eur. J. Biochem. 1997)
    3. Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. (PubMed id 23658386)1, 2 Murphy S.M.... Reilly M.M. (Neurology 2013)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. (PubMed id 20920666)1, 2 Rotthier A.... Timmerman V. (Am. J. Hum. Genet. 2010)
    6. Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. (PubMed id 19416851)1, 2 Han G.... Dunn T.M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    9. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    10. A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones. (PubMed id 7506601)1, 2 Takeda J.... Bell G.I. (Hum. Mol. Genet. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9517 HGNC: 11278 AceView: SPTLC2 Ensembl:ENSG00000100596 euGenes: HUgn9517
    ECgene: SPTLC2 Kegg: 9517 H-InvDB: SPTLC2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0526

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SPTLC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SPTLC2 gene:
    Search GeneIP for patents involving SPTLC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SPTLC2   OriGene RNAi products in human, mouse, rat for SPTLC2  
     OriGene qPCR primer pairs and template standards for SPTLC2   OriGene Protein Over-expression Lysate for SPTLC2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SPTLC2  
     OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SPTLC2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SPTLC2   OriGene Custom Protein Services for SPTLC2  

     
     
     Block miRNA regulation of human, mouse, rat SPTLC2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SPTLC2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTLC2 Predesigned siRNA for gene silencing in human, mouse, rat SPTLC2
     QuantiFast Probe-based Assays in human, mouse, rat SPTLC2 QuantiTect SYBR Green Assays in human, mouse, rat SPTLC2
     Custom PCR Arrays for SPTLC2 Search Chromatin IP Primers for SPTLC2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTLC2  Search GeneGlobe Interaction Network for SPTLC2
     Regulatory tfbs in SPTLC2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SPTLC2 GenScript cDNA clones with any tag delivered in your preferred vector for SPTLC2
     GenScript Custom Assay Services for SPTLC2 GenScript Custom overexpressing Cell Line Services for SPTLC2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SPTLC2 (SPTC2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SPTLC2 antibodies
     SPTLC2 proteins
     SPTLC2 lysates
     Antibodies for SPTLC2
     See all of Abcam's Antibodies, Kits and Proteins for SPTLC2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SPTLC2
     Antibodies for SPTLC2
     ELISAs for SPTLC2
     CLIAs for SPTLC2



     Browse ESI BIO Cell Lines and PureStem Progenitors for SPTLC2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for SPTLC2
     SwitchGear Promoter luciferase reporter plasmids for SPTLC2
     ThermoFisher Antibody for SPTLC2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPTLC2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPTLC2
     LSBio Antibodies in human, mouse, rat for SPTLC2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SPTLC2 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4