Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CEP135 Gene

protein-coding   GIFtS: 54
GCID: GC04P056815

Centrosomal Protein 135kDa

(Previous names: KIAA0635, centrosomal protein 4)
(Previous symbols: KIAA0635, CEP4)
  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)
About This Section

TryGeneCards Plus

Aliases
Centrosomal Protein 135kDa1 2     MCPH82 5
KIAA06351 2 3 5     Centrosomal Protein Of 135 KDa2
Centrosomal Protein 41 2 3     Centrosome Protein Cep1352
CEP41 2 3     Cep1353

External Ids:    HGNC: 290861   Entrez Gene: 96622   Ensembl: ENSG000001747997   OMIM: 6114235   UniProtKB: Q66GS93   

Export aliases for CEP135 gene to outside databases

Previous GC identifers: GC04P056657 GC04P056509 GC04P052768


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

TryGeneCards Plus

Entrez Gene summary for CEP135 Gene:
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis,
and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated
with autosomal recessive primary microcephaly-8. (provided by RefSeq, Jun 2012)

GeneCards Summary for CEP135 Gene:
CEP135 (centrosomal protein 135kDa) is a protein-coding gene. Diseases associated with CEP135 include primary autosomal recessive microcephaly type 8, and primary autosomal recessive microcephalies and seckel syndrome spectrum disorders. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is TSGA10.

UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9
Function: Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early
centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform
protein for CEP250 at the centriole

Gene Wiki entry for CEP135 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000004.12  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CEP135 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   Pax-5   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP135 promoter sequence
   Search Chromatin IP Primers for CEP135

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP135


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

CEP135 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP135 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P056815:  view genomic region     (about GC identifiers)

Start:
56,815,037 bp from pter      End:
56,899,529 bp from pter
Size:
84,493 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9 (See protein sequence)
Recommended Name: Centrosomal protein of 135 kDa  
Size: 1140 amino acids; 133490 Da
Subunit: Interacts with DCTN2 (By similarity). Interacts with CEP250
Sequence caution: Sequence=AAH12003.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA31610.2; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: B2RMY0 O75130 Q58F25 Q9H8H7
Alternative splicing: 2 isoforms:  Q66GS9-1   Q66GS9-2   

Explore the universe of human proteins at neXtProt for CEP135: NX_Q66GS9

Explore proteomics data for CEP135 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys535
  • Modification sites at PhosphoSitePlus

  • See CEP135 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079285.2  
    ENSEMBL proteins: 
     ENSP00000412799   ENSP00000257287  
    Reactome Protein details: Q66GS9

    CEP135 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CEP135
    GenScript Custom Purified and Recombinant Proteins Services for CEP135
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CEP135

    CEP135 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CEP135
    OriGene Custom Antibody Services for CEP135
    Novus Biologicals CEP135 Antibody
    Search for Antibodies for CEP135 at Abcam
    Cloud-Clone Corp. Antibodies for CEP135
    Search ThermoFisher Antibodies for CEP135
    LSBio Antibodies in human, mouse, rat for CEP135

    CEP135 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CEP135
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CEP135
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CEP135
    Cloud-Clone Corp. CLIAs for CEP135


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

    TryGeneCards Plus

    ProtoNet protein and cluster: Q66GS9

    UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9
    Similarity: Belongs to the CEP135/TSGA10 family


    (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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP135_HUMAN, Q66GS9
    Function: Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early
    centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform
    protein for CEP250 at the centriole

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding ----
    GO:0008022protein C-terminus binding IPI18851962
         
    CEP135 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CEP135
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CEP135

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CEP135
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CEP135

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CEP135 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CEP135 (see all 38):
    hsa-miR-607 hsa-let-7d hsa-miR-513a-5p hsa-miR-128 hsa-miR-570 hsa-miR-374c hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidCEP135 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CEP135
    Predesigned siRNA for gene silencing in human, mouse, rat CEP135

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CEP135

    Clone
    Products:
         
    OriGene clones in human, mouse for CEP135 (see all 7)
    OriGene ORF clones in mouse, rat for CEP135
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CEP135 (NM_025009)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEP135
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP135

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CEP135
    Browse ESI BIO Cell Lines and PureStem Progenitors for CEP135 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP135


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CP135_HUMAN, Q66GS9: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=During
    centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA17681131
    GO:0005829cytosol TAS--

    CEP135 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for CEP135 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 CEP135
        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



    CEP135 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEP135
    Interactions:

        Search GeneGlobe Interaction Network for CEP135

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

    Selected Interacting proteins for CEP135 (Q66GS91, 2, 3 ENSP000002572874) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62107 I2D: score=3 
    CENPJQ9HC771, 2, 3, ENSP000003713084EBI-1046993,EBI-946194 MINT-7994644 I2D: score=1 STRING: ENSP00000371308
    WRAP73Q9P2S53, ENSP000002707084I2D: score=2 STRING: ENSP00000270708
    STAMBPO956303I2D: score=5 
    MAPK1P284823I2D: score=1 
    About this table

    Gene Ontology (GO): 4 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:0007099centriole replication IMP17681131
    GO:0010457centriole-centriole cohesion IMP18851962

    CEP135 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CEP135 (CP135)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CEP135 gene (2 alternative transcripts): 
    NM_025009.4  NM_014645.1  

    Unigene Cluster for CEP135:

    Centrosomal protein 135kDa
    Hs.518767  [show with all ESTs]
    Unigene Representative Sequence: NM_025009
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000422247(uc003hbh.1) ENST00000506809 ENST00000257287(uc003hbi.3)
    ENST00000515081(uc010igz.1) ENST00000506202(uc003hbj.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CEP135 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CEP135 (see all 38):
    hsa-miR-607 hsa-let-7d hsa-miR-513a-5p hsa-miR-128 hsa-miR-570 hsa-miR-374c hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidCEP135 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CEP135
    Predesigned siRNA for gene silencing in human, mouse, rat CEP135
    Clone
    Products:
         
    OriGene clones in human, mouse for CEP135 (see all 7)
    OriGene ORF clones in mouse, rat for CEP135
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CEP135 (NM_025009)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEP135
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP135
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CEP135
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CEP135
      QuantiTect SYBR Green Assays in human, mouse, rat CEP135
      QuantiFast Probe-based Assays in human, mouse, rat CEP135

    Additional mRNA sequence: 

    BC012003.1 BC136535.1 BC136536.1 

    4 DOTS entries:

    DT.434419  DT.95148928  DT.91656190  DT.91693762 

    Selected AceView cDNA sequences (see all 57):

    BG258901 AK023683 BX282572 AA910186 AI868701 BM709643 BC012003 BU734129 
    AA101213 CA438857 AU279393 AA829975 AU139599 NM_025009 AB014535 BX476118 
    BQ775659 AA082100 AI401475 AL698759 BE349307 AW503948 BF941958 AA135479 

    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)
    About This Section

    TryGeneCards Plus

    CEP135 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATATTGTTTT
    CEP135 Expression
    About this image

    CEP135 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP135 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518767
        Custom PCR Arrays for CEP135
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CEP135
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CEP135
    QuantiTect SYBR Green Assays in human, mouse, rat CEP135
    QuantiFast Probe-based Assays in human, mouse, rat CEP135
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP135

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CEP135 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep1351 , 5 centrosomal protein 1351, 5 81.37(n)1
    82.81(a)1
      5 (41.31 cM)5
    3816441  NM_199032.21  NP_950197.11 
     765886985 
    chicken
    (Gallus gallus)
    Aves CEP1351 centrosomal protein 135kDa 71.08(n)
    67.44(a)
      422746  XM_004936020.1  XP_004936077.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEP1356
    centrosomal protein 135kDa
    60(a)
    1 ↔ 1
    5(105039647-105094250)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG363751.12   -- 72.81(n)    BG363751.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cep1351 centrosomal protein 135 57.81(n)
    53.69(a)
      553303  NM_001199990.1  NP_001186919.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cep1351 Cep135 40.11(n)
    28.67(a)
      39647  NM_001202179.2  NP_001189108.1 


    ENSEMBL Gene Tree for CEP135 (if available)
    TreeFam Gene Tree for CEP135 (if available)

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

    TryGeneCards Plus
    Paralogs for CEP135 gene
    TSGA102  
    1 SIMAP similar gene for CEP135 using alignment to 1 protein entry:     CP135_HUMAN:
    TSGA10

    CEP135 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CEP135 (see all 1695)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1383056191,2
    Cuntested156778044(+) GAGATC/TGTGAG 2 R C mis11Minor allele frequency- T:0.00NA 4544
    rs353760541,2
    C--52830259(+) GAAAA-/C/CC  
            
    CCCCC
    1 -- int11CSA 2
    rs1826886211,2
    --56715138(+) GCCAAC/TATGGT 1 -- us2k10--------
    rs569162481,2
    C--56715357(+) AAAAA-/CAAAAA
            
    AACAA
    2 -- us2k1 cds11Minor allele frequency- CAAAAA:0.00NA 2
    rs1890498461,2
    --56715464(+) TTCCCC/TAATCA 1 -- us2k10--------
    rs731555461,2
    C,F--56715487(+) ACGTTG/CAGGCA 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1926687001,2
    --56715535(+) CTAAGA/GATAGT 1 -- us2k10--------
    rs27023221,2
    C,F,A,H--56715594(+) GGAATG/AAGCTC 1 -- us2k118Minor allele frequency- A:0.22NS EA NA CSA WA 2342
    rs1424546871,2
    --56715726(+) TTGACA/GCAGCT 1 -- us2k10--------
    rs1513136481,2
    --56715847(+) TTTAGC/TCTATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CEP135 (56815037 - 56899529 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CEP135:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2653807CNV Deletion19546169
    nsv10496CNV Loss18304495

    Human Gene Mutation Database (HGMD): CEP135
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP135
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP135

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 611423   
    OMIM disorders: 614673  
    UniProtKB/Swiss-Prot: CP135_HUMAN, Q66GS9
  • Microcephaly 8, primary, autosomal recessive (MCPH8) [MIM:614673]: A disease defined as a head
    circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and
    the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is
    relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally
    retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant
    neurological deficits due to degenerative brain disorder. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 12 diseases for CEP135:    About MalaCards
    primary autosomal recessive microcephaly type 8    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders    primary autosomal recessive microcephaly type 1    diabetic macular edema
    microcephaly    seckel syndrome    mental retardation    cerebritis
    multiple myeloma    myeloma    malaria    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for CEP135:
    Diabetic macular edema

    CEP135 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CEP135

    Export disorders for CEP135 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

    TryGeneCards Plus

    PubMed articles for CEP135 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with CEP135)
        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. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    3. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. (PubMed id 22521416)1, 2 Hussain M.S.... Nurnberg P. (Am. J. Hum. Genet. 2012)
    4. A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization. (PubMed id 18851962)1, 2 Kim K.... Rhee K. (Exp. Cell Res. 2008)
    5. Plk4-induced centriole biogenesis in human cells. (PubMed id 17681131)1, 2 Kleylein-Sohn J.... Nigg E.A. (Dev. Cell 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly. (PubMed id 23511974)1 Lin Y.C....Tang T.K. (EMBO J. 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells. (PubMed id 21282530)1 Vandamme J.... Angrand P.O. (Mol. Cell. Proteomics 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9662 HGNC: 29086 AceView: KIAA0635 Ensembl:ENSG00000174799 euGenes: HUgn9662
    ECgene: CEP135 H-InvDB: CEP135

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0635

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CEP135 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for CEP135 gene:
    Search GeneIP for patents involving CEP135

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CEP135   OriGene RNAi products in human, mouse, rat for CEP135  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CEP135  
     OriGene qSTAR qPCR primer pairs in human, mouse for CEP135   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CEP135   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CEP135   OriGene Custom Protein Services for CEP135  

     
     
     Block miRNA regulation of human, mouse, rat CEP135 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CEP135
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP135 Predesigned siRNA for gene silencing in human, mouse, rat CEP135
     QuantiFast Probe-based Assays in human, mouse, rat CEP135 QuantiTect SYBR Green Assays in human, mouse, rat CEP135
     Custom PCR Arrays for CEP135 Search Chromatin IP Primers for CEP135
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CEP135  Search GeneGlobe Interaction Network for CEP135
     Regulatory tfbs in CEP135 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CEP135 GenScript cDNA clones with any tag delivered in your preferred vector for CEP135
     GenScript Custom Assay Services for CEP135 GenScript Custom overexpressing Cell Line Services for CEP135
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CEP135 (CP135)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CEP135 antibodies
     Search for Antibodies for CEP135 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CEP135
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CEP135
     Antibodies for CEP135
     ELISAs for CEP135
     CLIAs for CEP135



     Browse ESI BIO Cell Lines and PureStem Progenitors for CEP135
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP135
     SwitchGear 3'UTR luciferase reporter plasmids for CEP135
     SwitchGear Promoter luciferase reporter plasmids for CEP135
     Search ThermoFisher Antibodies for CEP135
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEP135
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CEP135
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CEP135
     LSBio Antibodies in human, mouse, rat for CEP135
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CEP135 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4