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CERKL Gene

protein-coding   GIFtS: 48
GCID: GC02M182401

Ceramide Kinase-Like

(Previous name: retinitis pigmentosa 26 (autosomal recessive))
(Previous symbol: RP26)
  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)
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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 Kinase-Like1 2
RP261 2 5
Retinitis Pigmentosa 26 (Autosomal Recessive)1
Ceramide Kinase-Like Protein2

External Ids:    HGNC: 216991   Entrez Gene: 3752982   Ensembl: ENSG000001884527   OMIM: 6083815   UniProtKB: Q49MI33   
ORGUL members:         

Export aliases for CERKL gene to outside databases

Previous GC identifers: GC02M182229 GC02M182109 GC02M174258


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CERKL Gene:
This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis
pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein
does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative
regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa
characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in
multiple transcript variants encoding different isoforms and non-coding transcripts.(provided by RefSeq, May
2010)

GeneCards Summary for CERKL Gene:
CERKL (ceramide kinase-like) is a protein-coding gene. Diseases associated with CERKL include retinitis pigmentosa 26, and cerkl-related retinitis pigmentosa. GO annotations related to this gene include diacylglycerol kinase activity and NAD+ kinase activity. An important paralog of this gene is SPHK1.

UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
Function: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in
oxidative stress conditions




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the CERKL gene promoter:
         AREB6   POU3F1   p300   FOXO3   FOXD3   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCERKL promoter sequence
   Search Chromatin IP Primers for CERKL

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


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

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

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M182401:  view genomic region     (about GC identifiers)

Start:
182,401,399 bp from pter      End:
182,545,392 bp from pter
Size:
143,994 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3 (See protein sequence)
Recommended Name: Ceramide kinase-like protein  
Size: 558 amino acids; 62622 Da
Developmental stage: Expressed in fetal lung, kidney and brain
Sequence caution: Sequence=BAC85266.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAG26980.1;
Type=Frameshift; Positions=Several;
Secondary accessions: B2RPL2 B4DEY1 Q49MH9 Q49MI0 Q49MI1 Q49MI2 Q5DVJ2 Q5DVJ4 Q5DVJ5 Q6UZF6
Q6ZP59
Alternative splicing: 8 isoforms:  Q49MI3-1   Q49MI3-2   Q49MI3-3   Q49MI3-4   Q49MI3-5   Q49MI3-7   Q49MI3-8   Q49MI3-9   
(May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CERKL: NX_Q49MI3

Explore proteomics data for CERKL at MOPED

Post-translational modifications: 

  • Phosphorylated on serine residues1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (5 alternative transcripts): 
    NP_001025482.1  NP_001025483.1  NP_001025484.1  NP_001153749.1  NP_963842.1  

    ENSEMBL proteins: 
     ENSP00000386725   ENSP00000387080   ENSP00000364108   ENSP00000409198   ENSP00000341159  
     ENSP00000364109   ENSP00000364106   ENSP00000411466  

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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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    2 InterPro protein domains:
     IPR001206 Diacylglycerol_kinase_cat_dom
     IPR016064 ATP-NAD_kinase_PpnK-typ

    Graphical View of Domain Structure for InterPro Entry Q49MI3

    ProtoNet protein and cluster: Q49MI3

    UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
    Similarity: Contains 1 DAGKc domain


    CERKL 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CERKL_HUMAN, Q49MI3
    Function: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in
    oxidative stress conditions

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IEA--
         
    CERKL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CERKL:
     Decreased Salmonella enterica  

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cerkl):
     cellular  vision/eye 

    CERKL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CERKL
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CERKL
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    1 qRT-PCR Assays for microRNA that regulate CERKL:
    hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidCERKL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CERKL

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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 CERKL

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERKL


    (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
    CERKL_HUMAN, Q49MI3: Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and
    cytoplasm. Isoform 5 is not enriched in the nucleoli
    CERKL_HUMAN, Q49MI3: Isoform 2: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic
    reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    nucleus5
    cytosol2
    cytoskeleton1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA19158957
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    CERKL 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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CERKL
    Interactions:

        Search GeneGlobe Interaction Network for CERKL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for CERKL (ENSP000003411594) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGPL1ENSP000003622984STRING: ENSP00000362298
    MAP3K4ENSP000003759864STRING: ENSP00000375986
    RANGAP1ENSP000003485774STRING: ENSP00000348577
    EP400ENSP000003742134STRING: ENSP00000374213
    EP400NLENSP000003658124STRING: ENSP00000365812
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0043066negative regulation of apoptotic process IDA19158957

    CERKL 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)
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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 CERKL

    1 PharmGKB related drug/compound annotation for CERKL gene    About this table
    Drug/compound PharmGKB Annotation
    iloperidoneCA  



    CERKL 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,
    Conferences by KenesGroup, 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 )
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    REFSEQ mRNAs for CERKL gene (5 alternative transcripts): 
    NM_001030311.2  NM_001030312.2  NM_001030313.2  NM_001160277.1  NM_201548.4  

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000410087(uc002unw.3 uc002unx.3 uc010frk.3 uc002uny.3 uc010zfm.2 uc002unz.3 uc002uoa.3 uc002uob.3 uc002uoc.3 uc021vth.1 uc021vti.1 uc021vtj.1 uc021vtk.1 uc021vtl.1 uc021vtm.1 uc002uod.2)
    ENST00000409440 ENST00000374969 ENST00000452174 ENST00000339098 ENST00000374970
    ENST00000374967 ENST00000494398(uc002uoe.3) ENST00000421817 ENST00000479558
    ENST00000466715 ENST00000460319 ENST00000476070 ENST00000497337
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CERKL:
    hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidCERKL 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CERKL
      QuantiTect SYBR Green Assays in human, mouse, rat CERKL
      QuantiFast Probe-based Assays in human, mouse, rat CERKL

    Selected AceView cDNA sequences (see all 29):

    NM_201548 AY357073 AI906687 BE501780 R85727 BM969366 AI935410 AI769736 
    AK129976 CA941582 BM979388 AI273051 BM983875 CA941289 AW148543 BU689441 
    AW968736 BE797822 BC020465 AW880375 BE781384 AW299362 AW058563 H95691 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CERKL (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:                          -                                                                                       
    SP2:                          -                       -                                                               
    SP3:                          -                 -     -                                                               
    SP4:                          -           -     -     -                                                               
    SP5:                          -                 -     -     -                                                         


    ECgene alternative splicing isoforms for CERKL

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


    CERKL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
    CERKL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CERKL Protein Expression

    UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
    Tissue specificity: Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal
    brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is
    expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina,
    kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CERKL

    (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 eukaryotes.

    Orthologs for CERKL gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cerkl1 , 5 ceramide kinase-like1, 5 79.09(n)1
    75.74(a)1
      2 (47.43 cM)5
    2280941  NM_001048176.11  NP_001041641.11 
     793305435 
    chicken
    (Gallus gallus)
    Aves CERKL1 ceramide kinase-like 71.46(n)
    66.8(a)
      424120  XM_421973.4  XP_421973.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    67(a)
    63(a)
    1 ↔ many
    1 ↔ many
    GL343455.1(646734-665193)
    GL343783.1(294-43472)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cerkl1 ceramide kinase-like 66.74(n)
    63.62(a)
      100487761  XM_002932015.2  XP_002932061.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cerkl1 ceramide kinase-like 61.2(n)
    60.25(a)
      100037318  NM_001089474.1  NP_001082943.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB56
    LCB46
    Minor sphingoid long-chain base kinase, paralog of...
    Sphingoid long-chain base kinase, responsible for ...
    13(a)
    12(a)
    many ↔ many
    many ↔ many
    XII(665844-667907) YLR260W
    XV(652010-653884) YOR171C
    rice
    (Oryza sativa)
    Liliopsida Os08g01527001 Os08g0152700 44.74(n)
    31.54(a)
      4344674  NM_001067541.1  NP_001061006.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CERKL gene
    SPHK12  CERK2  AGK2  SPHK22  

    CERKL for paralogs           About GeneDecksing



    (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 CERKL (see all 2604)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0651824
    Retinitis pigmentosa 26 (RP26)4--see VAR_0651822 R S mis40--------
    rs1219093981,2
    Cpathogenic1181811215(-) CAGACC/G/TGAATC 10 R * int1 stg10--------
    rs676167931,2
    C--174260647(+) GACAA-/TTAAGC 7 -- int10--------
    rs1490117311,2
    C--174283406(+) TAATT-/TTTTA 
            
    TTTTA
    7 -- int10--------
    rs339340861,2
    C--174294225(+) ACATA-/GAAGGT 7 -- int10--------
    rs339821841,2
    C--174366393(+) CATGA-/TATCAT 7 -- int10--------
    rs666523481,2
    C--174376508(+) TTTAA-/GACTCT 7 -- int10--------
    rs14492581,2
    C,F,A,H--181788786(-) GAAGTC/AATTTC 7 -- int121Minor allele frequency- A:0.02EA MN NS NA WA CSA 1775
    rs730264891,2
    C--181788918(+) ATCAAG/ACATAC 7 -- int12Minor allele frequency- A:0.02WA 120
    rs2005266061,2
    C--181788990(+) TTACCA/TGATAC 7 -- int10--------

    HapMap Linkage Disequilibrium report for CERKL (182401399 - 182545392 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CERKL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676063CNV Deletion23128226
    nsv834477CNV Gain17160897

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608381   
    OMIM disorders: 608380  
    UniProtKB/Swiss-Prot: CERKL_HUMAN, Q49MI3
  • Retinitis pigmentosa 26 (RP26) [MIM:608380]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 16 diseases for CERKL:    About MalaCards
    retinitis pigmentosa 26    cerkl-related retinitis pigmentosa    retinitis pigmentosa    cone-rod dystrophy
    retinitis    leber congenital amaurosis    rhyns syndrome    fundus dystrophy
    retinal disease    retinal degeneration    narcolepsy    blindness
    schizophrenia    pancreatitis    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for CERKL:
    Retinitis pigmentosa     cone-rod dystrophy

    CERKL for disorders           About GeneDecksing

    Genetic Association Database (GAD): CERKL
    Human Genome Epidemiology (HuGE) Navigator: CERKL (9 documents)

    Export disorders for CERKL 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 CERKL gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with CERKL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). (PubMed id 14681825)1, 2, 3, 9 Tuson M.... Gonzalez-Duarte R. (Am. J. Hum. Genet. 2004)
    2. Characterization of a ceramide kinase-like protein. (PubMed id 15708351)1, 2, 9 Bornancin F.... Billich A. (Biochim. Biophys. Acta 2005)
    3. Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress. (PubMed id 19158957)1, 2, 9 Tuson M.... Marfany G. (Mol. Vis. 2009)
    4. Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain- containing N-terminal regions together with C-terminal domains. (PubMed id 19501188)1, 2, 9 Rovina P....Bornancin F. (Biochim. Biophys. Acta 2009)
    5. A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. (PubMed id 18978954)1, 2, 9 Ali M....Inglehearn C.F. (Mol. Vis. 2008)
    6. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    9. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    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)
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    Entrez Gene: 375298 HGNC: 21699 AceView: RP26 Ensembl:ENSG00000188452 euGenes: HUgn375298
    ECgene: CERKL H-InvDB: CERKL

    (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 CERKL Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for CERKL gene:
    Search GeneIP for patents involving CERKL

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



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