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CEP164 Gene

protein-coding   GIFtS: 60
GCID: GC11P117198

Centrosomal Protein 164kDa

  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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Aliases
Centrosomal Protein 164kDa1 2
NPHP152 3
KIAA10523 5
Centrosomal Protein Of 164 KDa2
Cep1643

External Ids:    HGNC: 291821   Entrez Gene: 228972   Ensembl: ENSG000001102747   OMIM: 6148485   UniProtKB: Q9UPV03   

Export aliases for CEP164 gene to outside databases

Previous GC identifers: GC11P116704 GC11P113132


(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 CEP164 Gene:
This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome
segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles.
Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Dec 2012)

GeneCards Summary for CEP164 Gene:
CEP164 (centrosomal protein 164kDa) is a protein-coding gene. Diseases associated with CEP164 include nephronophthisis 15, and senior-loken syndrome 1.

UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
Function: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a
microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M
checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is
required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome
segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1,
RPA and CHEK1

Gene Wiki entry for CEP164 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CEP164 gene promoter:
         p53   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP164 promoter sequence
   Search Chromatin IP Primers for CEP164

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP164


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

CEP164 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP164 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P117198:  view genomic region     (about GC identifiers)

Start:
117,185,273 bp from pter      End:
117,283,984 bp from pter
Size:
98,712 bases      Orientation:
plus 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: CE164_HUMAN, Q9UPV0 (See protein sequence)
Recommended Name: Centrosomal protein of 164 kDa  
Size: 1460 amino acids; 164314 Da
Subunit: Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via
N-terminus) upon UV irradiation. Interacts with CCDC41/CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4
Sequence caution: Sequence=AAH00602.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH54015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA83004.2; Type=Erroneous initiation; Sequence=BAA91677.1; Type=Erroneous initiation;
Sequence=CAB56023.1; Type=Erroneous initiation;
Secondary accessions: Q6PKH9 Q7Z2X9 Q9NVS0 Q9UFJ6
Alternative splicing: 2 isoforms:  Q9UPV0-1   Q9UPV0-2   

Explore the universe of human proteins at neXtProt for CEP164: NX_Q9UPV0

Explore proteomics data for CEP164 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation,
    hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced
    phosphorylation1
  • Ubiquitination2 at Lys1359, Lys1362
  • Modification sites at PhosphoSitePlus

  • See CEP164 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258862.1  NP_055771.4  

    ENSEMBL proteins: 
     ENSP00000436609   ENSP00000436034   ENSP00000278935   ENSP00000435759   ENSP00000436351  
     ENSP00000431302  
    Reactome Protein details: Q9UPV0

    CEP164 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CEP164

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    CEP164 Assay Products:

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    Cloud-Clone Corp. CLIAs for CEP164


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry Q9UPV0

    ProtoNet protein and cluster: Q9UPV0

    UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
    Similarity: Contains 1 WW domain


    CEP164 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: CE164_HUMAN, Q9UPV0
    Function: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a
    microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M
    checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is
    required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome
    segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1,
    RPA and CHEK1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    CEP164 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CEP164:
     Abundance of large cells with   Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CEP164
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    miRNA
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    hsa-mir-328-3p (MIRT043771), hsa-mir-378a-3p (MIRT043960)

    Block miRNA regulation of human, mouse, rat CEP164 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CEP164 (see all 15):
    hsa-miR-4324 hsa-miR-98 hsa-miR-4254 hsa-miR-769-5p hsa-let-7d hsa-miR-202 hsa-miR-4268 hsa-let-7c
    SwitchGear 3'UTR luciferase reporter plasmidCEP164 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CEP164

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    (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
    CE164_HUMAN, Q9UPV0: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus.
    Note=Localizes specifically to very distally located appendage structures on the mature centriole from which
    initiate PC formation. Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear
    fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage
    response proteins KAT5/TIP60 and CHEK1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--

    CEP164 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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    SuperPaths for CEP164 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CEP164
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    Loss of Nlp from mitotic centrosomes



    CEP164 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEP164
    Interactions:

        Search GeneGlobe Interaction Network for CEP164

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

    Selected Interacting proteins for CEP164 (Q9UPV01, 3 ENSP000002789354) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATRQ135353, ENSP000003437414I2D: score=1 STRING: ENSP00000343741
    ATRIPQ8WXE13, ENSP000003230994I2D: score=1 STRING: ENSP00000323099
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CCDC92Q53HC01EBI-3937015,EBI-719994
    DVL3Q929971EBI-3937015,EBI-739789
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006281DNA repair IEA--
    GO:0007067mitosis IEA--
    GO:0042384cilium assembly IMP17954613

    CEP164 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 CEP164 (CE164)



    (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 CEP164 gene (2 alternative transcripts): 
    NM_001271933.1  NM_014956.4  

    Unigene Cluster for CEP164:

    Centrosomal protein 164kDa
    Hs.504009  [show with all ESTs]
    Unigene Representative Sequence: AB028975
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525734 ENST00000533153 ENST00000278935(uc001prb.3 uc001prc.3 uc001prf.3)
    ENST00000525416 ENST00000527609(uc001prd.2) ENST00000533570 ENST00000533675
    ENST00000533706(uc009yzp.1) ENST00000529153 ENST00000533223(uc001prg.1)
    ENST00000528706 ENST00000532187 ENST00000533433
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CEP164 (see all 15):
    hsa-miR-4324 hsa-miR-98 hsa-miR-4254 hsa-miR-769-5p hsa-let-7d hsa-miR-202 hsa-miR-4268 hsa-let-7c
    SwitchGear 3'UTR luciferase reporter plasmidCEP164 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: CEP164 (NM_014956)
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      QuantiFast Probe-based Assays in human, mouse, rat CEP164

    Additional mRNA sequence: 

    AB028975.1 AK001412.1 AK125995.1 AK302991.1 AK303067.1 AL117632.1 AL137265.1 AL833532.1 
    BC000602.2 BC054015.1 BX648682.1 

    12 DOTS entries:

    DT.100782869  DT.111308  DT.100782863  DT.97791958  DT.100782865  DT.100022820  DT.97840604  DT.100782870 
    DT.91736235  DT.92021961  DT.95259683  DT.120701478 

    Selected AceView cDNA sequences (see all 118):

    AI761502 CK299632 AA314840 AK125995 AI263841 BF984513 CK822058 BF059402 
    AA613108 AL137265 BX489357 BX099012 BQ929444 BX647583 BC000602 BM785018 
    AI810197 AI245014 H95881 CA390234 CR592556 BX433101 AK001412 AA856657 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CEP164    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:                                                                                                                                                            
    SP2:                    -                                                           -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24b ^ 25a · 25b · 25c · 25d ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b
    SP1:  -                                                               
    SP2:  -     -     -           -           -                           
    SP3:                          -           -                           
    SP4:                                                                  
    SP5:                          -                                       


    ECgene alternative splicing isoforms for CEP164

    (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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    CEP164 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCATTGTTT
    CEP164 Expression
    About this image

    CEP164 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP164 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504009

    UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
    Tissue specificity: Expressed in several cell lines

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP164

    (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 CEP164 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep1641 , 5 centrosomal protein 1641, 5 73.81(n)1
    65.58(a)1
      9 (25.10 cM)5
    2145521  NM_001081373.21  NP_001074842.21 
     457669465 
    chicken
    (Gallus gallus)
    Aves CEP1641 centrosomal protein 164kDa 60.84(n)
    52.25(a)
      419769  XM_004948098.1  XP_004948155.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEP1646
    centrosomal protein 164kDa
    32(a)
    1 ↔ 1
    GL343521.1(411671-430888)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cep1641 centrosomal protein 164kDa 52.06(n)
    42.09(a)
      100495898  XM_004916068.1  XP_004916125.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01087562.16
    Uncharacterized protein
    75(a)
    1 ↔ 1
    15(46555101-46558792) ENSDARG00000089422
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91706
    --
    17(a)
    1 ↔ 1
    X(15872136-15876974)


    ENSEMBL Gene Tree for CEP164 (if available)
    TreeFam Gene Tree for CEP164 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CEP164 gene
    1 SIMAP similar gene for CEP164 using alignment to 6 protein entries:     CE164_HUMAN (see all proteins):
    DKFZp434O2413

    CEP164 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CEP164
    PGOHUM00000238442


    (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 CEP164 (see all 1923)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0685044
    Nephronophthisis 15 (NPHP15)4--see VAR_0685042 R W mis40--------
    VAR_0685034
    Nephronophthisis 15 (NPHP15)4--see VAR_0685032 Q P mis40--------
    rs1465649651,2
    C--113124373(+) TATTTC/TAGCAG 1 -- us2k10--------
    rs1138069521,2
    C--113124436(+) GTTCAC/AGCCTG 1 -- us2k12Minor allele frequency- A:0.03CSA WA 120
    rs1114845061,2
    C,F--113124570(+) TAATCC/TTAGCA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1502311381,2
    C--113124603(+) GATCAA/CCTGAG 1 -- us2k10--------
    rs1834133241,2
    --113124637(+) GCCAAA/CATGGT 1 -- us2k10--------
    rs1882941941,2
    C--113124638(+) CCAACA/GTGGTG 1 -- us2k10--------
    rs1388792801,2
    C--113124670(+) TACAAA/GAAAAT 1 -- us2k10--------
    rs1922946411,2
    --113124748(+) GAACCC/TGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CEP164 (117185273 - 117283984 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CEP164:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745120CNV Deletion23290073
    esv2678884CNV Deletion23128226
    nsv39581CNV Loss16902084
    nsv517908CNV Loss19592680

    Human Gene Mutation Database (HGMD): CEP164
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP164
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP164

    (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: 614848   
    OMIM disorders: 614845  
    UniProtKB/Swiss-Prot: CE164_HUMAN, Q9UPV0
  • Nephronophthisis 15 (NPHP15) [MIM:614845]: An autosomal recessive disorder characterized by the
    association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in
    blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial
    dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that
    progresses to end-stage renal failure. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 18 diseases for CEP164:    
    About MalaCards
    nephronophthisis 15    senior-loken syndrome 1    interstitial nephritis    nephronophthisis
    end stage renal failure    bronchiectasis    leber congenital amaurosis    xeroderma pigmentosum
    nephritis    retinal degeneration    blindness    retinitis
    hepatitis c virus    hepatitis c    hepatocellular carcinoma    hepatitis
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for CEP164:
    Nephronophthisis

    CEP164 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CEP164

    Export disorders for CEP164 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 CEP164 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with CEP164)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2, 3 Andersen J.S....Mann M. (Nature 2003)
    2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R.... Ohara O. (DNA Res. 1999)
    3. UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PubMed id 19197159)1, 2, 9 Pan Y.R. and Lee E.Y. (Cell Cycle 2009)
    4. Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. (PubMed id 18283122)1, 2, 9 Sivasubramaniam S.... Lee E.Y. (Genes Dev. 2008)
    5. Cep164, a novel centriole appendage protein required for primary cilium formation. (PubMed id 17954613)1, 2, 9 Graser S.... Nigg E.A. (J. Cell Biol. 2007)
    6. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PubMed id 22863007)1, 2 Chaki M....Hildebrandt F. (Cell 2012)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    9. CCDC41 is required for ciliary vesicle docking to the mother centriole. (PubMed id 23530209)2 Joo K.... Kim J. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    10. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PubMed id 23348840)2 Tanos B.E....Tsou M.F. (Genes Dev. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 22897 HGNC: 29182 AceView: Cep164 Ensembl:ENSG00000110274 euGenes: HUgn22897
    ECgene: CEP164 H-InvDB: CEP164

    (According to HUGE)
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    HUGE: KIAA1052

    (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 CEP164 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 CEP164 gene:
    Search GeneIP for patents involving CEP164

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



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