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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPTLC2 Gene

protein-coding   GIFtS: 64
GCID: GC14M077973

serine palmitoyltransferase, long chain base subunit 2

 Explore 10 diseases affiliated with
SPTLC2 via our new
 Human Malady Compendium 
Biological research products
for SPTLC2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Serine Palmitoyltransferase, Long Chain Base Subunit 21 2     EC 2.3.1.503 8
LCB21 2 3 5     HSN1C2 5
KIAA05261 3 5     NSAN1C2 5
LCB2A1 2     SPT22 5
HLCB2a1     Serine Palmitoyltransferase 22
Long Chain Base Biosynthesis Protein 2a2 3     Serine Palmitoyltransferase, Subunit II2
Serine-Palmitoyl-CoA Transferase 22 3     LCB2a3
LCB 22 3     Long Chain Base Biosynthesis Protein 23
SPT 22 3     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPTLC2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPTLC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
Sequence caution: Sequence=BAA25452.2; Type=Erroneous initiation;
Secondary accessions: Q16685

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15270

  • 4/16 DME Specific Peptides for SPTLC2 (O15270) (see all 16)
     DSPVVPL  VINMGSYN  LFGYLRDF  SDELNHAS 

    SPTLC2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004854.1  
    ENSEMBL proteins: 
     ENSP00000216484   ENSP00000451029   ENSP00000452189  
    Reactome Protein details: O15270
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    Uscn Proteins for SPTLC2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    SPTLC2 for ontologies           About GeneDecksing



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

    SPTLC2 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB001917 Aminotransferase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004758serine C-palmitoyltransferase activity IDA--
    GO:0030170pyridoxal phosphate binding IEA--


    SPTLC2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Sptlc2tm1Jia for SPTLC2
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sptlc2):
     cellular  homeostasis/metabolism  liver/biliary system  mortality/aging 

    SPTLC2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    Sphingolipid metabolism1.00
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.54
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    3ceramide biosynthesis
    ceramide biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SPTLC2 
        ceramide biosynthesis

    4        Reactome Pathways for SPTLC2
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPTLC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/72 Interacting proteins for SPTLC2 (O152703 ENSP000002164844) via UniProtKB, MINT, STRING, and/or I2D (see all 72)

    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006686sphingomyelin biosynthetic process IEA--
    GO:0030148sphingolipid biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--


    SPTLC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPTLC2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SPTLC2

    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 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)

    Search CenterWatch for drugs/clinical trials and news about SPTLC2 / SPTC2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    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
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    Additional cDNA 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 

    24/284 AceView cDNA sequences (see all 284):

    BM990439 BF939455 W93177 AI079531 BM772247 N93642 AA256515 AA642946 
    BM831362 AA485092 BQ025633 NM_004863 CA945105 BU607593 BM821800 AI862158 
    BM831461 BM822292 AI308235 BF221558 BM723775 CR616151 AW273277 H98998 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPTLC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGCCAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SPTLC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTLC2

    SOURCE GeneReport for Unigene cluster: Hs.435661

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

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    In Situ
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    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPTLC2 gene from 9/41 species (see all 41)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SPTLC21 serine palmitoyltransferase, long chain base subunit more 79.56(n)
    89.21(a)
      423379  NM_001006483.1  NP_001006483.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPTLC26
    --
    88(a)
    1 ↔ 1
    1(20565074-20627574)
    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
    CG4162-PA1
    56(a)3
    59.2(n)1
    57.93(a)1
      35D23
    349101  NM_057266.41  NP_476614.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F43H9.2a3
    sptl-21
    serine palmtoyltransferase3
    Protein SPTL-21
    55(a)
    (best of 3)3
    57.79(n)1
    55.33(a)1
      V(8021762-8024171)3
    2666461  NM_072663.31  NP_505064.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB2(YDR062W)4
    LCB21
    Component of serine palmitoyltransferase, responsible more4
    Lcb2p1
    53.24(n)1
    48.47(a)1
      4(576474-578159)4
    8516341, 4  NP_010347.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G487906
    LCB26
    (see all 3)
    serine palmitoyltransferase
    (see all 3)
    52(a)
    51(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3(18093404-18095181)
    5(7981641-7985398)
    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
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2479 NCBI SNPs in SPTLC2 are shown (see all 2479    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs560403591,2
    F,--58138544(+) ACAGGG/CTAAGA 1 -- ut311Minor allele frequency- C:0.12NA 120
    rs37427261,2
    C,H--58139067(-) AACTCA/GGAGTC 1 -- ut314Minor allele frequency- G:0.00NS EA 416
    rs171058861,2
    C,F,H,--58139093(+) GTGCAT/CAGAAG 1 -- ut3125Minor allele frequency- C:0.07NA NS EA WA 2462
    rs134301,2
    F,--58139229(-) TGAAGC/GAATAC 1 -- ut312Minor allele frequency- G:0.01MN WA 302
    rs80218861,2
    C,F,H,--58139266(+) AAGCCA/GTTGCA 1 -- ut3114Minor allele frequency- G:0.05NS EA NA WA 1454
    rs789471781,2
    C,F,--58140123(+) TAGGTT/CCTGGG 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs758234021,2
    --58140195(+) TATACA/CTCCCC 1 -- ut310--------
    rs1167941861,2
    C,F,--58140350(+) GCATCC/TGCACC 1 -- ut311Minor allele frequency- T:0.05WA 118
    rs455778341,2
    --58140495(+) TGGGAC/TTACAG 1 -- ut310--------
    rs747306731,2
    C,F,--58140814(+) CCTACG/AGCATG 1 -- ut311Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for SPTLC2 (77972340 - 78083116 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SPTLC2
         2 CNVs: 3943 5754
         1 Inversion: 59721
    Human Gene Mutation Database (HGMD): SPTLC2

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    (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

    SPTLC2 for disorders           About GeneDecksing

    OMIM gene information: 605713   
    OMIM disorders: 613640  
    UniProtKB/Swiss-Prot: SPTC2_HUMAN, O15270
  • Defects in SPTLC2 are the cause of hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640].
  • It is 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

    10 diseases for SPTLC2:    About MalaCards
    hereditary sensory neuropathy    neuropathy    autonomic dysfunction    autonomic neuropathy
    peripheral neuropathy    osteomyelitis    tuberculosis    pancreatitis
    malaria    mycobacterium tuberculosis

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

    2 Novoseek 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)

    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

    PubMed articles for SPTLC2 gene, integrated from 9 sources (see all 40):
    (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. (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. (1997)
    3. Mutations in the SPTLC2 subunit of serine palmitoyltr ansferase cause hereditary sensory and autonomic neuropathy type I. (PubMed id 20920666)1, 2 Rotthier A....Timmerman V. (2010)
    4. 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. (2009)
    5. 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. (2004)
    6. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    7. 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. (1998)
    8. A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones. (PubMed id 7506601)1, 2 Takeda J.... Bell G.I. (1993)
    9. Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis. (PubMed id 12445191)1, 9 Stachowitz S....Behrendt H. (2002)
    10. Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. (PubMed id 12207934)1, 9 Dawkins J.L....Nicholson G.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 9517 HGNC: 11278 AceView: SPTLC2 Ensembl:ENSG00000100596 euGenes: HUgn9517
    ECgene: SPTLC2 Kegg: 9517 H-InvDB: SPTLC2

    (According to HUGE)
    About This Section
    HUGE: KIAA0526

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



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