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CEP41 Gene

protein-coding   GIFtS: 47
GCID: GC07M130038

Centrosomal Protein 41kDa

(Previous names: testis specific, 14)
(Previous symbol: TSGA14)
  See CEP41-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 41kDa1 2     Centrosomal Protein 41 KDa2
TSGA141 2 3 5     Centrosomal Protein Of 41 KDa2
Testis Specific, 141 2     Testis Specific Protein A142
Testis-Specific Gene A14 Protein2 3     Cep413
JBTS152 5     

External Ids:    HGNC: 123701   Entrez Gene: 956812   Ensembl: ENSG000001064777   OMIM: 6105235   UniProtKB: Q9BYV83   

Export aliases for CEP41 gene to outside databases


(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 CEP41 Gene:
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains
and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia.
Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and
neurological disorder. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Mar
2012)

GeneCards Summary for CEP41 Gene:
CEP41 (centrosomal protein 41kDa) is a protein-coding gene. Diseases associated with CEP41 include joubert syndrome 15, and cep41-related joubert syndrome.

UniProtKB/Swiss-Prot: CEP41_HUMAN, Q9BYV8
Function: Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the
transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium




(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 at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CEP41
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CEP41 promoter sequence
   Search Chromatin IP Primers for CEP41

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP41


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

Entrez Gene cytogenetic band: 7q32   Ensembl cytogenetic band:  7q32.2   HGNC cytogenetic band: 7q32

CEP41 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP41 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M130038:  view genomic region     (about GC identifiers)

Start:
130,033,612 bp from pter      End:
130,082,274 bp from pter
Size:
48,663 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 129,421,759-129,466,260     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CEP41_HUMAN, Q9BYV8 (See protein sequence)
Recommended Name: Centrosomal protein of 41 kDa  
Size: 373 amino acids; 41368 Da
Subunit: Found in a complex with TTLL6
Secondary accessions: A4D1M0 B4DQ35 F5H0V6 Q7Z496 Q86TM1 Q8NFU8 Q9H6A3 Q9NPV3
Alternative splicing: 5 isoforms:  Q9BYV8-1   Q9BYV8-2   Q9BYV8-3   Q9BYV8-4   Q9BYV8-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP41: NX_Q9BYV8

Explore proteomics data for CEP41 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CEP41 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001244087.1  NP_001244088.1  NP_001244089.1  NP_061188.1  

    ENSEMBL proteins: 
     ENSP00000223208   ENSP00000419078   ENSP00000342738   ENSP00000419192   ENSP00000417593  
     ENSP00000420670   ENSP00000418363   ENSP00000417463   ENSP00000418712   ENSP00000417815  
     ENSP00000445888  
    Reactome Protein details: Q9BYV8

    CEP41 Human Recombinant Protein Products:

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    Novus Biologicals CEP41 Protein
    Novus Biologicals CEP41 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CEP41 

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for CEP41 


    (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:
     IPR001763 Rhodanese-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9BYV8

    ProtoNet protein and cluster: Q9BYV8

    1 Blocks protein domain: IPB001763 Rhodanese-like

    UniProtKB/Swiss-Prot: CEP41_HUMAN, Q9BYV8
    Domain: Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the
    protein is enzymatically inactive (PubMed:22246503)
    Similarity: Belongs to the CEP41 family
    Similarity: Contains 1 rhodanese domain


    Find genes that share domains with CEP41           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CEP41_HUMAN, Q9BYV8
    Function: Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the
    transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with CEP41           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CEP41:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tsga14):
     behavior/neurological  cardiovascular system  embryogenesis  integument  mortality/aging 
     nervous system  reproductive system  vision/eye 

    Find genes that share phenotypes with CEP41           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CEP41
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CEP41
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    miRNA
    Products:
        
    miRTarBase miRNAs that target CEP41:
    hsa-mir-155-5p (MIRT020777), hsa-mir-193b-3p (MIRT016483)

    Block miRNA regulation of human, mouse, rat CEP41 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CEP41
    SwitchGear 3'UTR luciferase reporter plasmidCEP41 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP41


    (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
    CEP41_HUMAN, Q9BYV8: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
    Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA14654843
    GO:0005814centriole IDA--
    GO:0005829cytosol TAS--
    GO:0005929cilium ----
    GO:0036064ciliary basal body IDA--

    Find genes that share ontologies with CEP41           About GenesLikeMe


    (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 CEP41 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


    Find genes that share SuperPaths with CEP41           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CEP41
        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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEP41
    Interactions:

        Search GeneGlobe Interaction Network for CEP41

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

    Selected Interacting proteins for CEP41 (ENSP000002232084) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CEP290ENSP000003080214STRING: ENSP00000308021
    CLASP1ENSP000002637104STRING: ENSP00000263710
    NEDD1ENSP000004079644STRING: ENSP00000407964
    SDCCAG8ENSP000003554994STRING: ENSP00000355499
    AKAP9ENSP000003485734STRING: ENSP00000348573
    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:0015031protein transport IEA--
    GO:0018095protein polyglutamylation ISS--
    GO:0042384cilium assembly IMP--

    Find genes that share ontologies with CEP41           About GenesLikeMe



    (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 CEP41



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CEP41 gene (4 alternative transcripts): 
    NM_001257158.1  NM_001257159.1  NM_001257160.1  NM_018718.2  

    Unigene Cluster for CEP41:

    Centrosomal protein 41kDa
    Hs.368315  [show with all ESTs]
    Unigene Representative Sequence: NM_018718
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000223208(uc003vpy.3 uc003vpz.3 uc010lmf.3 uc003vqa.3 uc011kpg.2)
    ENST00000485736 ENST00000484549 ENST00000343969 ENST00000603513 ENST00000480206
    ENST00000492389 ENST00000472739 ENST00000477003 ENST00000475282 ENST00000471201
    ENST00000498527 ENST00000469826 ENST00000482730 ENST00000489512(uc003vqb.1)
    ENST00000495702 ENST00000334451 ENST00000541543
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCEP41 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CEP41
      QuantiFast Probe-based Assays in human, mouse, rat CEP41

    Additional mRNA sequence: 

    AF429308.1 AF429309.1 AJ278890.1 AK026098.1 AK098283.1 AK298618.1 AK311382.1 AK314676.1 
    AL359617.1 AY186739.1 BC018789.1 BC047500.1 BC056162.1 NR_046443.1 

    11 DOTS entries:

    DT.111904  DT.95368038  DT.100755404  DT.100662498  DT.110484  DT.95368037  DT.100025409  DT.95368034 
    DT.40256078  DT.121055262  DT.40128607 

    Selected AceView cDNA sequences (see all 184):

    BQ183024 BI711081 AA983687 BM985142 AA398428 AW090637 AK098283 AF429308 
    CA773760 AI887536 AI363489 CA423612 F05012 CA775760 BM479225 BM475258 
    AI248264 AL561637 AU253351 BU175137 AW016902 CA433760 AI476254 AV648428 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CEP41 (see all 13)    About this scheme

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

    ExUns: 15a · 15b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CEP41

    (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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    CEP41 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAACCAGCT
    CEP41 Expression
    About this image

    CEP41 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP41 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368315

    UniProtKB/Swiss-Prot: CEP41_HUMAN, Q9BYV8
    Tissue specificity: Isoform 1 and isoform 4 are expressed in testis and fetal tissues

        Custom PCR Arrays for CEP41
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP41

    (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 chordates.

    Orthologs for CEP41 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tsga145
    Cep411
    testis specific gene A145
    centrosomal protein 411
    85.7(n)1
    87.13(a)1
      6 (12.52 cM)5
    839221  NM_031998.21  NP_114387.11 
     306534575 
    chicken
    (Gallus gallus)
    Aves CEP411 centrosomal protein 41kDa 70.03(n)
    74.66(a)
      416684  NM_001199393.1  NP_001186322.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEP416
    centrosomal protein 41kDa
    71(a)
    1 ↔ 1
    GL343819.1(22623-46166)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.74152 Transcribed sequence with weak similarity to protein more 77.34(n)    AL866996.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.185202 Transcribed sequence with weak similarity to protein more 74.84(n)    CA470943.1 


    ENSEMBL Gene Tree for CEP41 (if available)
    TreeFam Gene Tree for CEP41 (if available)

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

    (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 CEP41 (see all 959)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs557101171,2
    C--129425058(+) AAAAA-/A/AA  
            
    GTCGC
    4 -- int11NA 2
    rs1463689161,2
    C--129426694(+) TGATT-/ATAAG 
            
    ATATT
    4 -- int10--------
    rs105878801,2
    C--129426697(+) TTATA-/AGATA 
            
    TTTCA
    4 -- int12Minor allele frequency- AGATA:0.25NA 4
    rs2014334241,2
    --129431334(+) AGTGA-/AATAATAA 4 -- int10--------
    rs2003563361,2
    --129434030(+) ATCAG-/AAAAAA 4 -- int10--------
    rs132433661,2
    H--129434036(+) aaaaaA/Gctgta 4 -- int14Minor allele frequency- G:0.00NS EA 418
    rs1446084551,2
    C--129461821(+) GTACT-/GTACTCATGTAA
    AATATAATCATTGG
    GGAAA
    5 -- int10--------
    rs38396551,2
    C--130035205(+) TGGGG-/AAAAAA 4 -- nc-transcript-variantut311Minor allele frequency- A:0.50NA 2
    rs711785831,2
    C--130039028(-) GGAGTAGGC/-  
            
    AGGCC
    4 -- int11Minor allele frequency- -:0.00NA 2
    rs715279621,2
    C--130045952(+) GAAAT-/AATA  
            
    AATAA
    4 -- int11Minor allele frequency- AATA:0.50NA 2

    HapMap Linkage Disequilibrium report for CEP41 (130033612 - 130082274 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CEP41: --
    Human Gene Mutation Database (HGMD): CEP41
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP41
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP41

    (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.)
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    OMIM gene information: 610523   
    OMIM disorders: 614464  
    UniProtKB/Swiss-Prot: CEP41_HUMAN, Q9BYV8
  • Joubert syndrome 15 (JBTS15) [MIM:614464]: An autosomal recessive disorder presenting with cerebellar
    ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.
    Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented
    superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar
    tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal
    disease, liver fibrosis and polydactyly. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Note=Genetic variations in CEP41 may be associated with susceptibility to autism

  • 7 diseases for CEP41:    
    About MalaCards
    joubert syndrome 15    cep41-related joubert syndrome    joubert syndrome 14    mandibuloacral dysplasia with type b lipodystrophy
    joubert syndrome 21    mandibuloacral dysplasia    joubert syndrome and related disorders


    Find genes that share disorders with CEP41           About GenesLikeMe


    Export disorders for CEP41 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 CEP41 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with CEP41)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. (PubMed id 22246503)1, 2, 3 Lee J.E....Gleeson J.G. (Nat. Genet. 2012)
    2. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2, 3 Andersen J.S....Mann M. (Nature 2003)
    3. Mutations in the TSGA14 gene in families with autism spectrum disorders. (PubMed id 21438139)1, 2 Korvatska O.... Raskind W.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    7. The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. (PubMed id 12034494)1, 2 Yamada T.... Kishino T. (Gene 2002)
    8. Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices. (PubMed id 22456293)1 Schneider E....Haaf T. (Cytogenet. Genome Res. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)

    (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)
    About This Section

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    Entrez Gene: 95681 HGNC: 12370 AceView: TSGA14 Ensembl:ENSG00000106477 euGenes: HUgn95681
    ECgene: CEP41 H-InvDB: CEP41

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CEP41 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 CEP41 gene:
    Search GeneIP for patents involving CEP41

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
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