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

CEP70 Gene

protein-coding   GIFtS: 53
GCID: GC03M138213

centrosomal protein 70kDa

 Explore 8 diseases affiliated with
CEP70 via our new
 Human Malady Compendium 
Biological research products
for CEP70
    

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

Aliases
Centrosomal Protein 70kDa1 2
BITE1 2 3
P10-Binding Protein2 3
FLJ130361
Centrosomal Protein Of 70 KDa2
Cep703

External Ids:    HGNC: 299721   Entrez Gene: 803212   Ensembl: ENSG000001141077   OMIM: 6143105   UniProtKB: Q8NHQ13   

Export aliases for CEP70 gene to outside databases

Previous GC identifers: GC03M139696 GC03M135587


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

UniProtKB/Swiss-Prot: CEP70_HUMAN, Q8NHQ1
Function: Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During
mitosis, required for the organization and orientation of the mitotic spindle

Gene Wiki entry for CEP70


(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_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEP70 gene promoter:
         Egr-3   AML1a   SREBP-1c   SREBP-1b   Egr-2   MZF-1   CREB   SREBP-1a   deltaCREB   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP70 promoter sequence
   Search SABiosciences Chromatin IP Primers for CEP70

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP70


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

Entrez Gene cytogenetic band: 3q22.3   Ensembl cytogenetic band:  3q22.3   HGNC cytogenetic band: 3q22.3

CEP70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP70 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M138213:  view genomic region     (about GC identifiers)

Start:
138,213,186 bp from pter      End:
138,313,380 bp from pter
Size:
100,195 bases      Orientation:
minus 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: CEP70_HUMAN, Q8NHQ1 (See protein sequence)
Recommended Name: Centrosomal protein of 70 kDa  
Size: 597 amino acids; 69752 Da
Subunit: Directly interacts with tubulin-gamma; this interaction determines centrosomal localization
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Note=Localized at the center of the radial microtubule array
in interphase and at the spindle poles during various stages of mitosis
Secondary accessions: B7Z5I8 B7Z7E8 D3DNE9 F5GZX8 Q96B31 Q9H2C3 Q9H2Z1 Q9H940
Alternative splicing: 5 isoforms:  Q8NHQ1-1   Q8NHQ1-2   Q8NHQ1-3   Q8NHQ1-4   Q8NHQ1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP70: NX_Q8NHQ1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NHQ1

  • CEP70 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_077817.2  
    ENSEMBL proteins: 
     ENSP00000264982   ENSP00000417821   ENSP00000419231   ENSP00000419833   ENSP00000418552  
     ENSP00000417465   ENSP00000418131   ENSP00000417819   ENSP00000419743   ENSP00000419817  
     ENSP00000418878   ENSP00000444128  
    Reactome Protein details: Q8NHQ1
    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CEP70

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--


    CEP70 for ontologies           About GeneDecksing



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

    CEP70 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q8NHQ1

    ProtoNet protein and cluster: Q8NHQ1

    1 Blocks protein family: IPB011072 Protein kinase PKN/PRK1

    UniProtKB/Swiss-Prot: CEP70_HUMAN, Q8NHQ1
    Domain: The coiled-coil domains may be important for tubulin-gamma-binding and hence for centrosomal localization
    Similarity: Contains 1 TPR repeat


    (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: CEP70_HUMAN, Q8NHQ1
    Function: Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During
    mitosis, required for the organization and orientation of the mitotic spindle

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CEP70:
    hsa-miR-3163 hsa-miR-502-5p hsa-miR-488 hsa-miR-340 hsa-miR-500a hsa-miR-466 hsa-miR-590-3p hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidCEP70 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CEP70 (see all 6)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP70

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19060904


    CEP70 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CEP70:
     Synthetic lethal with c-Myc af 


    (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
    1Recruitment of mitotic centrosome proteins and complexes
    Centrosome maturation1.00
    Mitotic G2-G2/M phases0.81
    Recruitment of mitotic centrosome proteins and complexes1.00
    Loss of proteins required for interphase microtubule organization from the centrosome0.78
    G2/M Transition0.83
    Loss of Nlp from mitotic centrosomes0.78
    2Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for CEP70 (see all 8)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    G2/M Transition
    Loss of proteins required for interphase microtubule organization from the centrosome



    CEP70 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP70

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

    5/95 Interacting proteins for CEP70 (Q8NHQ11, 2, 3 ENSP000002649824) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COILP384321, 2, 3, ENSP000002403164EBI-739624,EBI-945751 MINT-2876726 MINT-2876707 I2D: score=3 STRING: ENSP00000240316
    CCDC85BQ158342, 3, ENSP000003116954MINT-67861 I2D: score=5 STRING: ENSP00000311695
    KAT7O952512, 3, ENSP000002590214MINT-66201 I2D: score=5 STRING: ENSP00000259021
    TRIM29Q141342, 3, ENSP000003431294MINT-67676 I2D: score=5 STRING: ENSP00000343129
    KANSL1Q7Z3B32, 3, ENSP000002624194MINT-67988 I2D: score=4 STRING: ENSP00000262419
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--


    CEP70 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 CEP70
    Search CenterWatch for drugs/clinical trials and news about CEP70 

    (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 CEP70 gene: 
    NM_024491.2  

    Unigene Cluster for CEP70:

    Centrosomal protein 70kDa
    Hs.531962  [show with all ESTs]
    Unigene Representative Sequence: NM_024491
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264982(uc003esl.3 uc011bmk.2 uc011bml.2 uc011bmm.2)
    ENST00000489254 ENST00000484888 ENST00000474781 ENST00000459695 ENST00000481834(uc003esm.3)
    ENST00000468900 ENST00000462419 ENST00000478673 ENST00000464035(uc003esn.3)
    ENST00000470159 ENST00000485115 ENST00000460967 ENST00000542237

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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CEP70:
    hsa-miR-3163 hsa-miR-502-5p hsa-miR-488 hsa-miR-340 hsa-miR-500a hsa-miR-466 hsa-miR-590-3p hsa-miR-3941
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP70
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP70

    Additional cDNA sequence: 

    AF202146.1 AF289495.1 AK023098.1 AK225440.1 AK294587.1 AK295866.1 AK299003.1 AK301913.1 
    AK314314.1 BC016050.2 BC030598.2 

    16 DOTS entries:

    DT.409734  DT.91753650  DT.100814106  DT.100814105  DT.97843055  DT.100660386  DT.104600  DT.40219058 
    DT.101966365  DT.97843052  DT.120908511  DT.430584  DT.75178140  DT.95376290  DT.95376288  DT.100698951 

    24/133 AceView cDNA sequences (see all 133):

    BM832862 BP356268 AI278937 BM819202 BC016050 BF222218 AI000520 AW273604 
    NM_024491 AI018144 AA985505 AI082807 AI699036 AI399743 BF000663 AI683285 
    BM833067 BF435951 BP356241 AA687585 AW167770 CB138454 BC030598 BM785833 

    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

    CEP70 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACAGTTGCCC

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

    About this image
    See CEP70 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP70

    SOURCE GeneReport for Unigene cluster: Hs.531962
        SABiosciences Custom PCR Arrays for CEP70
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP70

    (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 chordates.

    Orthologs for CEP70 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep701 , 5 centrosomal protein 701, 5 83.87(n)1
    79.6(a)1
      9 (51.45 cM)5
    681211  NM_023873.31  NP_076362.21 
     992434685 
    chicken
    (Gallus gallus)
    Aves CEP701 centrosomal protein 70kDa 63.16(n)
    54.82(a)
      429044  XM_426601.2  XP_426601.2 
    lizard
    (Anolis carolinensis)
    Reptilia CEP706
    --
    50(a)
    1 ↔ 1
    1(77393380-77407172)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.154672 Xenopus laevis transcribed sequence with weak similarity more 70.6(n)    BJ087315.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AL920338.12   -- 69.24(n)    AL920338.1 


    ENSEMBL Gene Tree for CEP70 (if available)
    TreeFam Gene Tree for CEP70 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/1864 NCBI SNPs in CEP70 are shown (see all 1864    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1824198721,2
    --138212773(+) ATCTAC/GAAGGA 1 -- int10--------
    rs791732401,2
    --138212776(+) TAGAAG/AGAGCC 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1445943061,2
    --138212797(+) CGTCTA/GATCCC 1 -- int10--------
    rs1862139551,2
    --138212883(+) AATGTA/GTTATA 1 -- int10--------
    rs803285051,2
    --138212953(+) AAAAGT/CGGGGA 1 -- int11Minor allele frequency- C:0.01WA 118
    rs1384113171,2
    --138213002(+) CAGAAC/TGCTGA 1 -- int10--------
    rs783412921,2
    C,F,--138213003(+) AGAACG/ACTGAC 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1914364651,2
    --138213029(+) ACTGCA/GTATTG 1 -- int10--------
    rs1163566451,2
    C,F,--138213065(+) CAAGTA/GAAGTA 1 -- int11Minor allele frequency- G:0.02WA 118
    rs1162465251,2
    C,F,--138213125(+) AGCCTA/CGGAAG 1 -- int11Minor allele frequency- C:0.04NA 120

    HapMap Linkage Disequilibrium report for CEP70 (138213186 - 138313380 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CEP70: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP70
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP70

    (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

    CEP70 for disorders           About GeneDecksing

    OMIM gene information: 614310    OMIM disorders: --

    8 diseases for CEP70:    About MalaCards
    bardet-biedl syndrome    situs inversus    bulimia nervosa    bruxism
    anorexia nervosa    macular degeneration    rabies    ataxia

    1 disease from the University of Copenhagen DISEASES database for CEP70:
    Situs inversus
    Human Genome Epidemiology (HuGE) Navigator: CEP70 (1 document)

    Export disorders for CEP70 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 CEP70 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with CEP70)
        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. (2003)
    2. CEP70 protein interacts with gamma-tubulin to localize at the centrosome and is critical for mitotic spindle assembly. (PubMed id 21795687)1, 2 Shi X.... Zhou J. (2011)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Cep70 promotes microtubule assembly in vitro by increa sing microtubule elongation. (PubMed id 22427462)1 Shi X....Li D. (2012)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1 He C....Hunter D.J. (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: 80321 HGNC: 29972 AceView: Cep70 Ensembl:ENSG00000114107 euGenes: HUgn80321
    ECgene: CEP70 H-InvDB: CEP70

    (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 CEP70 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 CEP70 gene:
    Search GeneIP for patents involving CEP70

    GeneCards and IP:
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