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

CERS6 Gene

protein-coding   GIFtS: 49
GCID: GC02P169313

ceramide synthase 6

(Previous names: LAG1 longevity assurance homolog 6 (S. cerevisiae), LAG1...)
(Previous symbol: LASS6)
 Explore 3 diseases affiliated with
CERS6 via our new
 Human Malady Compendium 
Biological research products
for CERS6
    

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

Aliases
Ceramide Synthase 61 2     CERS52
LASS61 2 3     Longevity Assurance Homolog 62
LAG1 Homolog, Ceramide Synthase 61 2     CerS53
LAG1 Longevity Assurance Homolog 6 (S. Cerevisiae)1     LAG1 Longevity Assurance Homolog 63

External Ids:    HGNC: 238261   Entrez Gene: 2537822   Ensembl: ENSG000001722927   UniProtKB: Q6ZMG93   

Export aliases for CERS6 gene to outside databases


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

UniProtKB/Swiss-Prot: CERS6_HUMAN, Q6ZMG9
Function: May be involved in sphingolipid synthesis or its regulation (By similarity)




(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CERS6
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCERS6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CERS6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CERS6


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

Entrez Gene cytogenetic band: 2q24.3   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q31

CERS6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CERS6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P169313:  view genomic region     (about GC identifiers)

Start:
169,312,372 bp from pter      End:
169,631,644 bp from pter
Size:
319,273 bases      Orientation:
plus 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: CERS6_HUMAN, Q6ZMG9 (See protein sequence)
Recommended Name: Ceramide synthase 6  
Size: 384 amino acids; 44890 Da
Subcellular location: Nucleus membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum membrane;
Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=AAH30800.2; Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: Q32M63 Q8N617
Alternative splicing: 2 isoforms:  Q6ZMG9-1   Q6ZMG9-2   

Explore the universe of human proteins at neXtProt for CERS6: NX_Q6ZMG9

Post-translational modifications:

  • Glycosylation on Asn-18 is not necessary for function (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZMG9

  • CERS6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243055.1  NP_982288.1  

    ENSEMBL proteins: 
     ENSP00000306579   ENSP00000376453  
    Reactome Protein details: Q6ZMG9
    Human Recombinant Protein Products: 
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    Novus Biologicals CERS6 Proteins
    Novus Biologicals CERS6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CERS6

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0031965nuclear membrane IEA--


    CERS6 for ontologies           About GeneDecksing



    CERS6 Antibody Products: 
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    Uscn ELISAs and CLIAs for CERS6


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

    CERS6 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR016439 Longevity_assurance_LAG1_LAC1
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like
     IPR006634 TLC-dom

    Graphical View of Domain Structure for InterPro Entry Q6ZMG9

    ProtoNet protein and cluster: Q6ZMG9

    2 Blocks protein families:
    IPB005547 Longevity-assurance protein (LAG1)
    IPB006634 TRAM


    UniProtKB/Swiss-Prot: CERS6_HUMAN, Q6ZMG9
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 TLC (TRAM/LAG1/CLN8) domain


    (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: CERS6_HUMAN, Q6ZMG9
    Function: May be involved in sphingolipid synthesis or its regulation (By similarity)

    miRNA
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    hsa-miR-640 hsa-miR-520e hsa-miR-106a hsa-miR-200a hsa-miR-30d hsa-miR-4275 hsa-miR-3161 hsa-miR-30a
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERS6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
    GO:0050291sphingosine N-acyltransferase activity IEA--


    CERS6 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CERS6:
     Lamellipodia and high actin ra 

    Animal Models:
         1 MGI phenotypic allele for Cers6 (no phenotypes)

    CERS6 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
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for CERS6
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis



    CERS6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CERS6

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for CERS6 (Q6ZMG93 ENSP000003065794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MRPL11Q9Y3B73I2D: score=5 
    SIRT3ENSP000003721914STRING: ENSP00000372191
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0030148sphingolipid biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046513ceramide biosynthetic process IEA--


    CERS6 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CERS6
    Search CenterWatch for drugs/clinical trials and news about CERS6 

    (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 CERS6 gene (2 alternative transcripts): 
    NM_001256126.1  NM_203463.2  

    Unigene Clusters for CERS6:

    Ceramide synthase 6
    Hs.506829  [show with all ESTs], Hs.743222  [show with all ESTs]
    Unigene Representative Sequences: NR_045786, NM_001256126
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305747(uc002ueb.1) ENST00000392687(uc002uec.1)

    miRNA
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    hsa-miR-640 hsa-miR-520e hsa-miR-106a hsa-miR-200a hsa-miR-30d hsa-miR-4275 hsa-miR-3161 hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CERS6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CERS6

    Additional cDNA sequence: 

    AK023042.1 AK024891.1 AK091391.1 AK172775.1 AL080192.1 BC030800.2 BC109284.1 BC109285.1 

    9 DOTS entries:

    DT.440675  DT.100027737  DT.91754671  DT.100786463  DT.121003426  DT.95254207  DT.121003456  DT.92434231 
    DT.100702022 

    14 AceView cDNA sequences:

    AI150099 BC035245 BG722671 BQ130079 F00280 BF921625 AA838493 AA394072 
    BU853076 BI036722 T07901 AW994194 AA292363 BF800177 

    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

    CERS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAGGAATAA

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

    About this image

    CERS6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CERS6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CERS6

    SOURCE GeneReport for Unigene clusters: Hs.506829 Hs.743222
        SABiosciences Custom PCR Arrays for CERS6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERS6

    (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 CERS6 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CERS61 ceramide synthase 6 76.9(n)
    78.74(a)
      771503  XM_001233813.2  XP_001233814.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    90(a)
    67(a)
    1 ↔ many
    1 ↔ many
    1(245480217-245518172)
    1(245388452-245409642)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5648671 novel protein similar to LAG1 homolog, ceramide synthase more 72.12(n)
    79.95(a)
      564867  XM_688191.4  XP_693283.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta schlank6
    schlank
    38(a)
    possible ortholog
    X(6151701-6161260)
    worm
    (Caenorhabditis elegans)
    Secernentea hyl-26
    hyl-16
    Homolog of Yeast Longevity gene family member (hyl...
    Homolog of Yeast Longevity gene family member (hyl...
    23(a)
    22(a)
    many ↔ many
    many ↔ many
    X(4697218-4699433)
    IV(8540541-8544366)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G262001 TRAM, LAG1 and CLN8 (TLC) lipid-sensing domain containing more 45.23(n)
    34.36(a)
      3766796  NM_001160896.1  NP_001154368.1 


    ENSEMBL Gene Tree for CERS6 (if available)
    TreeFam Gene Tree for CERS6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CERS6 gene
    CERS22  CERS42  CERS12  CERS52  CERS32  
    5 SIMAP similar genes for CERS6 using alignment to 1 protein entry:     CERS6_HUMAN:
    CERS5    LASS5    CERS2    CERS3    CERS4

    CERS6 for paralogs           About GeneDecksing



    (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

    10/5583 NCBI SNPs in CERS6 are shown (see all 5583    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1866189051,2
    --169310789(+) AGCATC/GACATT 2 -- us2k10--------
    rs26025661,2
    F,--169310951(-) TTCTTC/TTCAGT 2 -- us2k13Minor allele frequency- T:0.07WA NA EA 358
    rs1890607891,2
    --169311031(+) CACACA/GACCTG 2 -- us2k10--------
    rs1116094341,2
    F--169311341(+) CCTGCC/ATGTTG 2 -- us2k12Minor allele frequency- A:0.50CSA 4
    rs1148638761,2
    F,--169311488(+) TTTCAA/GTGCAG 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1483517561,2
    --169311498(+) GCAGAC/GGAGAC 2 -- us2k10--------
    rs580286701,2
    C--169311632(+) ACTCC-/CTCTCTC 2 -- us2k10--------
    rs64330661,2
    C,F,A,H,--169311638(+) TCTCTG/CTGTGT 2 -- us2k1 trp35Minor allele frequency- C:0.22NA WA CSA 9
    rs724465531,2
    C,--169311639(+) CTCTC-/TGTG  
            
    TGTGT
    2 -- us2k10--------
    rs742797971,2
    C--169311664(+) GTGTG-/TGCGGTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CERS6 (169312372 - 169562372 bp, first 250kb of CERS6)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CERS6: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CERS6
    DNA2.0 Custom Variant and Variant Library Synthesis for CERS6

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

    CERS6 for disorders           About GeneDecksing

    3 diseases for CERS6:    About MalaCards
    rheumatoid arthritis    arthritis    malaria


    Export disorders for CERS6 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 CERS6 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with CERS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Ceramide synthase 6 plays a critical role in the devel opment of experimental autoimmune encephalomyelitis. (PubMed id 22544924)1 Schiffmann S....Geisslinger G. (2012)
    4. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Alteration of ceramide synthase 6/C16-ceramide induces activating transcription factor 6-mediated endoplasmic reticulum (ER) stress an d apoptosis via perturbation of cellular Ca2+ and ER/Golgi membrane network. (PubMed id 22013072)1 Senkal C.E....Ogretmen B. (2011)
    8. Increased ceramide synthase 2 and 6 mRNA levels in br east cancer tissues and correlation with sphingosine kinase expression. (PubMed id 19912991)1 Erez-Roman R....Futerman A.H. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. PERK-dependent regulation of ceramide synthase 6 and thioredoxin play a key role in mda-7/IL-24-induced killing of primary human gli oblastoma multiforme cells. (PubMed id 20103619)1 Yacoub A....Dent P. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 253782 HGNC: 23826 AceView: LASS6.1 Ensembl:ENSG00000172292 euGenes: HUgn253782
    ECgene: CERS6 H-InvDB: CERS6

    (According to HUGE)
    About This Section
      --

    (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 CERS6 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 CERS6 gene:
    Search GeneIP for patents involving CERS6

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



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