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CERS3 Gene

protein-coding   GIFtS: 49
GCID: GC15M100941

Ceramide Synthase 3

(Previous names: LAG1 longevity assurance homolog 3 (S. cerevisiae), LAG1...)
(Previous symbol: LASS3)
  See CERS3-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ceramide Synthase 31 2     ARCI92 5
LASS31 2 3 5     LAG1 Longevity Assurance Homolog 3 (S. Cerevisiae)1
LAG1 Homolog, Ceramide Synthase 31 2     CerS33
Dihydroceramide Synthase 32 3     EC 2.3.1.243
LAG1 Longevity Assurance Homolog 32 3     

External Ids:    HGNC: 237521   Entrez Gene: 2042192   Ensembl: ENSG000001542277   OMIM: 6152765   UniProtKB: Q8IU893   
ORGUL members:         

Export aliases for CERS3 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CERS3 Gene:
CERS3 (ceramide synthase 3) is a protein-coding gene. Diseases associated with CERS3 include ichthyosis, congenital, autosomal recessive 9, and weill-marchesani-like syndrome. GO annotations related to this gene include sphingosine N-acyltransferase activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is CERS2.

UniProtKB/Swiss-Prot: CERS3_HUMAN, Q8IU89
Function: Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference
for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of
very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation




(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CERS3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCERS3 promoter sequence
   Search Chromatin IP Primers for CERS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CERS3


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

Entrez Gene cytogenetic band: 15q26.3   Ensembl cytogenetic band:  15q26.3   HGNC cytogenetic band: 15q26.3

CERS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CERS3 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M100941:  view genomic region     (about GC identifiers)

Start:
100,940,600 bp from pter      End:
101,085,200 bp from pter
Size:
144,601 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CERS3_HUMAN, Q8IU89 (See protein sequence)
Recommended Name: Ceramide synthase 3  
Size: 383 amino acids; 46316 Da
Secondary accessions: Q8NE64 Q8NEN6

Explore the universe of human proteins at neXtProt for CERS3: NX_Q8IU89

Explore proteomics data for CERS3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CERS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001277270.1  NP_001277271.1  NP_001277272.1  NP_849164.2  

    ENSEMBL proteins: 
     ENSP00000284382   ENSP00000437640   ENSP00000377672   ENSP00000453816   ENSP00000453598  
    Reactome Protein details: Q8IU89

    CERS3 Human Recombinant Protein Products:

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    Novus Biologicals CERS3 Protein
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    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CERS: Homeoboxes / CERS class

    4 InterPro protein domains:
     IPR016439 Longevity_assurance_LAG1_LAC1
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like
     IPR006634 TLC-dom

    Graphical View of Domain Structure for InterPro Entry Q8IU89

    ProtoNet protein and cluster: Q8IU89

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


    UniProtKB/Swiss-Prot: CERS3_HUMAN, Q8IU89
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 TLC (TRAM/LAG1/CLN8) domain


    Find genes that share domains with CERS3           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CERS3_HUMAN, Q8IU89
    Function: Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference
    for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of
    very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation
    Catalytic activity: Acyl-CoA + sphingosine = CoA + N-acylsphingosine
    Catalytic activity: Acyl-CoA + dihydrosphingosine = CoA + N-acyldihydrosphingosine

         Enzyme Number (IUBMB): EC 2.3.1.241

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
    GO:0050291sphingosine N-acyltransferase activity IEA--
         
    Find genes that share ontologies with CERS3           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cers3):
     behavior/neurological  growth/size/body  homeostasis/metabolism  immune system  integument 
     mortality/aging 

    Find genes that share phenotypes with CERS3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cers3tm1.1Rsnd for CERS3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CERS3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CERS3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CERS3

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate CERS3:
    hsa-miR-338-5p hsa-miR-448 hsa-miR-4251 hsa-miR-539 hsa-miR-3143 hsa-miR-543 hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidCERS3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CERS3

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CERS3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERS3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CERS3_HUMAN, Q8IU89: Nucleus membrane; Multi-pass membrane protein (Potential)

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

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

    Find genes that share ontologies with CERS3           About GenesLikeMe


    (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).
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    SuperPaths for CERS3 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


    Find genes that share SuperPaths with CERS3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CERS3
        Sphingolipid Metabolism

    1 Reactome Pathway for CERS3
        Sphingolipid de novo biosynthesis


    2 Kegg Pathways  (Kegg details for CERS3):
        Sphingolipid metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CERS3
    Interactions:

        Search GeneGlobe Interaction Network for CERS3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for CERS3 (ENSP000002843824) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT5ENSP000003685524STRING: ENSP00000368552
    SIRT3ENSP000003721914STRING: ENSP00000372191
    HDAC6ENSP000003340614STRING: ENSP00000334061
    ACER3ENSP000002785444STRING: ENSP00000278544
    SEC62ENSP000003376884STRING: ENSP00000337688
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006665sphingolipid metabolic process TAS--
    GO:0030148sphingolipid biosynthetic process TAS--
    GO:0030216keratinocyte differentiation IMP--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with CERS3           About GenesLikeMe



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CERS3



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CERS3 gene (4 alternative transcripts): 
    NM_001290341.1  NM_001290342.1  NM_001290343.1  NM_178842.3  

    Unigene Cluster for CERS3:

    Ceramide synthase 3
    Hs.662371  [show with all ESTs]
    Unigene Representative Sequence: BC034970
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284382(uc002bvz.3 uc002bwa.3 uc002bwb.3) ENST00000538112
    ENST00000394113 ENST00000560944 ENST00000560348 ENST00000558884 ENST00000559023
    ENST00000559639
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate CERS3:
    hsa-miR-338-5p hsa-miR-448 hsa-miR-4251 hsa-miR-539 hsa-miR-3143 hsa-miR-543 hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidCERS3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CERS3
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CERS3
      QuantiTect SYBR Green Assays in human, mouse, rat CERS3
      QuantiFast Probe-based Assays in human, mouse, rat CERS3

    Additional mRNA sequence: 

    AK307191.1 BC027616.2 BC028703.1 BC034500.1 BC034970.1 

    6 DOTS entries:

    DT.91818968  DT.100022188  DT.95265312  DT.40213181  DT.121075538  DT.92044510 

    Selected AceView cDNA sequences (see all 33):

    AI150300 BG739839 AI818996 AA897501 BG772055 CB857681 BX112012 BC034500 
    BG772599 BC028703 BG717442 BQ435498 AA405035 BI459140 BC027616 BC034970 
    BX109825 BM559623 BG743450 BG718327 AI091424 NM_178842 BF980181 BF979454 

    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)
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    CERS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTTTTACT
    CERS3 Expression
    About this image


    CERS3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Secondary Spermatocyte Seminiferous Tubules
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
     
     Esophagus (Gastrointestinal Tract)
    CERS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CERS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.662371

    UniProtKB/Swiss-Prot: CERS3_HUMAN, Q8IU89
    Tissue specificity: Expressed in the epidermis, where it localizes at the interface between the stratum granulosum
    and the stratum corneum (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERS3

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CERS3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cers31 , 5 LAG1 homolog, ceramide synthase 35
    ceramide synthase 31
    83.07(n)1
    78.53(a)1
      7 (36.15 cM)5
    5459751  NM_001164201.11  NP_001157673.11 
     667435045 
    chicken
    (Gallus gallus)
    Aves CERS31 ceramide synthase 3 66.22(n)
    59.68(a)
      426648  XM_424275.4  XP_424275.2 
    lizard
    (Anolis carolinensis)
    Reptilia CERS36
    ceramide synthase 3
    57(a)
    1 ↔ 1
    GL343383.1(749010-773042)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG363905.12   -- 74.58(n)    BG363905.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01067609.16
    cers3b6
    ceramide synthase 3b
    52(a)
    51(a)
    1 ↔ many
    1 ↔ many
    7(10744380-10783500) ENSDARG00000078541
    18(6772525-6789193) ENSDARG00000036337
    fruit fly
    (Drosophila melanogaster)
    Insecta schlank6
    schlank
    35(a)
    1 → many
    X(6151701-6161260)
    worm
    (Caenorhabditis elegans)
    Secernentea hyl-26
    hyl-16
    Protein HYL-1 (hyl-1) mRNA, complete cds
    28(a)
    27(a)
    many ↔ many
    many ↔ many
    X(4696785-4699461) WBGene00002044
    IV(8540554-8544379) WBGene00002043


    ENSEMBL Gene Tree for CERS3 (if available)
    TreeFam Gene Tree for CERS3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CERS3 gene
    CERS22  CERS42  CERS12  CERS62  CERS52  
    5 SIMAP similar genes for CERS3 using alignment to 3 protein entries:     CERS3_HUMAN (see all proteins):
    CERS2    CERS4    CERS6    LASS5    CERS5

    Find genes that share paralogs with CERS3           About GenesLikeMe



    (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)
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    Selected SNPs for CERS3 (see all 3804)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113487391,2
    C--77133433(+) TTGCT-/A/ATCA
            
    TTCTC
    1 -- int10--------
    rs109093911,2
    H--77148249(+) TTTTTA/TAAAAA 1 -- int1 trp30--------
    rs556402051,2
    C--80769826(+) TTTTT-/TTTGAGAT 1 -- int11Minor allele frequency- TTT:0.00NA 2
    rs787877471,2
    C,F--100940159(+) TAGGTC/TATTCT 1 -- ds50011Minor allele frequency- T:0.08WA 118
    rs734707341,2
    C,F--100940285(+) CACAGG/AGTGCA 1 -- ds50013Minor allele frequency- A:0.08WA NA 240
    rs765885471,2
    F--100940304(+) GCTCTC/GCTTAG 1 -- ds50011Minor allele frequency- G:0.08EA 120
    rs597308511,2
    C,F--100940371(+) CCAATC/GAGGCA 1 -- ds50013Minor allele frequency- G:0.09WA CSA 122
    rs18671611,2
    C,F,A,H--100940425(+) ACACCA/GCAAAC 1 -- ds500124Minor allele frequency- G:0.18NS EA NA WA CSA 1345
    rs1399415051,2
    C--100940567(+) CCAAGA/CAATGT 1 -- ds50010--------
    rs734707361,2
    C--100940716(+) AAAGAG/ATGGTT 1 -- ut312Minor allele frequency- A:0.11WA 120

    HapMap Linkage Disequilibrium report for CERS3 (100940600 - 101085200 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CERS3 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750135CNV Deletion23290073
    esv3492CNV Deletion18987735
    esv1759060CNV Deletion17803354
    esv2674387CNV Deletion23128226
    esv1555633CNV Deletion17803354
    esv2145822CNV Deletion18987734
    esv1058598CNV Deletion17803354
    esv1944504CNV Deletion18987734
    esv990393CNV Deletion20482838
    esv2581646CNV Deletion19546169

    Human Gene Mutation Database (HGMD): CERS3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CERS3
    DNA2.0 Custom Variant and Variant Library Synthesis for CERS3

    (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.)
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    OMIM gene information: 615276   
    OMIM disorders: 615023  
    UniProtKB/Swiss-Prot: CERS3_HUMAN, Q8IU89
  • Ichthyosis, congenital, autosomal recessive 9 (ARCI9) [MIM:615023]: A form of autosomal recessive
    congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the
    epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar
    ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within
    the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often
    associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the
    entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on
    an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 4 diseases for CERS3:    
    About MalaCards
    ichthyosis, congenital, autosomal recessive 9    weill-marchesani-like syndrome    ichthyosis, congenital, autosomal recessive 2    autosomal recessive congenital ichthyosis


    Find genes that share disorders with CERS3           About GenesLikeMe


    Export disorders for CERS3 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)
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    PubMed articles for CERS3 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CERS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (PubMed id 23754960)1, 2 Radner F.P....Fischer J. (PLoS Genet. 2013)
    2. 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)
    3. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (PubMed id 23549421)1 Eckl K.M....Hennies H.C. (J. Invest. Dermatol. 2013)
    4. A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium. (PubMed id 20304771)1 Newman A.B....Murabito J.M. (J. Gerontol. A Biol. Sci. Med. Sci. 2010)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    6. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 204219 HGNC: 23752 AceView: LASS3 Ensembl:ENSG00000154227 euGenes: HUgn204219
    ECgene: CERS3 Kegg: 204219 H-InvDB: CERS3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CERS3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CERS3 gene:
    Search GeneIP for patents involving CERS3

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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