Human Gene CEP164 (uc009yzp.1)
  Description: Homo sapiens centrosomal protein 164kDa (CEP164), transcript variant 1, mRNA.
RefSeq Summary (NM_014956): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:117,234,671-117,282,633 Size: 47,963 Total Exon Count: 26 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:117,234,671-117,282,633)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkH-INVHGNC
LynxMalacardsPubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CEP164
CDC HuGE Published Literature: CEP164
Positive Disease Associations: Tunica Media
Related Studies:
  1. Tunica Media
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CEP164
Diseases sorted by gene-association score: nephronophthisis 15* (1328), senior-loken syndrome-1* (138), nephronophthisis (17), spinocerebellar ataxia 11 (8), interstitial nephritis (5), leber congenital amaurosis (1), joubert syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.06 RPKM in Testis
Total median expression: 392.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AB028975 - Homo sapiens KIAA1052 mRNA for KIAA1052 protein.
BX648682 - Homo sapiens mRNA; cDNA DKFZp686E1868 (from clone DKFZp686E1868).
AK302991 - Homo sapiens cDNA FLJ54767 complete cds.
AK303067 - Homo sapiens cDNA FLJ61505 complete cds, weakly similar to Trichohyalin.
AB384094 - Synthetic construct DNA, clone: pF1KSDA1052, Homo sapiens CEP164 gene for centrosomal protein 164 kDa, complete cds, without stop codon, in Flexi system.
BC152748 - Synthetic construct Homo sapiens clone IMAGE:100016000, MGC:184132 centrosomal protein 164kDa (CEP164) mRNA, encodes complete protein.
BC156876 - Synthetic construct Homo sapiens clone IMAGE:100062715, MGC:190595 centrosomal protein 164kDa (CEP164) mRNA, encodes complete protein.
AK125995 - Homo sapiens cDNA FLJ44007 fis, clone TESTI4023762.
AL833532 - Homo sapiens mRNA; cDNA DKFZp686L0637 (from clone DKFZp686L0637).
AL137265 - Homo sapiens mRNA; cDNA DKFZp434O2413 (from clone DKFZp434O2413); partial cds.
BX647583 - Homo sapiens mRNA; cDNA DKFZp313D2019 (from clone DKFZp313D2019).
AL117632 - Homo sapiens mRNA; cDNA DKFZp434E165 (from clone DKFZp434E165); partial cds.
AK001412 - Homo sapiens cDNA FLJ10550 fis, clone NT2RP2002154.

-  Other Names for This Gene
  Alternate Gene Symbols: AL137265
UCSC ID: uc009yzp.1
RefSeq Accession: NM_014956

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CEP164:
bbs (Bardet-Biedl Syndrome Overview)
nephron-ov (Nephronophthisis-Related Ciliopathies)

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: AL137265.1
exon count: 26CDS single in 3' UTR: no RNA size: 5068
ORF size: 0CDS single in intron: no Alignment % ID: 99.92
txCdsPredict score: 4477.00frame shift in genome: no % Coverage: 75.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.