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

CEP41 Gene

protein-coding   GIFtS: 49
GCID: GC07M130038

centrosomal protein 41kDa

(Previous names: testis specific, 14 )
(Previous symbol: TSGA14)
 Explore 7 diseases affiliated with
CEP41 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CEP41    

Aliases
for CEP41 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Centrosomal Protein 41kDa1 2     FLJ224451
TSGA141 2 3     Centrosomal Protein 41 KDa2
JBTS151 2     Centrosomal Protein Of 41 KDa2
Testis Specific, 141 2     Testis Specific Protein A142
Testis-Specific Gene A14 Protein2 3     Cep413
DKFZp762H13111     

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

Export aliases for CEP41 gene to outside databases


Summaries
for CEP41 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CEP41:
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)

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




Genomic Views
for CEP41 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CEP41
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 130,036,375 bp from pter      End:
 130,082,274 bp from pter
Size:
 45,900 bases      Orientation:
 minus strand

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

Proteins
for CEP41 gene

(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: 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
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium
basal body. Note=Localizes mainly to the cilium basal body and in primary cilia
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BYV8

    • CEP41 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals CEP41 Protein
    Novus Biologicals CEP41 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CEP41

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA--
    GO:0005829cytosol TAS--
    GO:0036064cilium basal body IDA--
    GO:0072372primary cilium IDA--


    CEP41 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CEP41 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CEP41 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001763 Rhodanese-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9BYV8

    ProtoNet protein and cluster: Q9BYV8

    1 Blocks protein family: 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


    Function
    for CEP41 gene

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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for CEP41

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP41

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    CEP41 for ontologies           About GeneDecksing


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

    Animal Models:
         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 

    CEP41 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CEP41 gene

    (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 CEP41 (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



    CEP41 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP41

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

    5/54 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 (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--
    GO:0015031protein transport IEA--
    GO:0018095protein polyglutamylation ISS--
    GO:0042384cilium assembly IMP--


    CEP41 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CEP41 gene

    (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 CEP41
    Search CenterWatch for drugs/clinical trials and news about CEP41 

    Transcripts
    for CEP41 gene

    (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 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
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000223208(uc003vpy.3 uc003vpz.3 uc010lmf.3 uc003vqa.3 uc011kpg.2)
    ENST00000485736 ENST00000484549 ENST00000343969 ENST00000480206 ENST00000492389
    ENST00000472739 ENST00000477003 ENST00000475282 ENST00000471201 ENST00000498527
    ENST00000469826 ENST00000482730 ENST00000489512(uc003vqb.1) ENST00000495702
    ENST00000334451 ENST00000541543

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    Inhib. RNA
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    OriGene shRNA RFP: CEP41
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEP41
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP41

    Additional cDNA 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 

    24/184 AceView cDNA sequences (see all 184):

    AI332310 AW157525 AL583200 AI016703 CA433760 AW016902 BM475258 BM479225 
    AU253351 BU175137 AI248264 CA775760 AL561637 AF429309 BE218408 AW298565 
    AK026098 BU631017 AV648094 BM680086 AJ278890 AA737794 F05012 CB217050 

    GeneLoc Exon Structure

    5/13 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

    Expression
    for CEP41 gene

    (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

    CEP41 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAACCAGCT

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

    CEP41 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Paraxial Mesoderm CellsBone, Skeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CEP41 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP41

    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

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    In Situ
    Assay Products:     
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    Orthologs
    for CEP41 gene

    (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 CEP41 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tsga141 , 5 testis specific gene A141, 5 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 TSGA141 testis specific, 14 70.03(n)
    74.66(a)    		   416684  NM_001199393.1  NP_001186322.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CEP416
    		 --
    		 69(a)
    		 1 ↔ 1
    		 GL343819.1(31628-46166)
    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
    for CEP41 gene

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

    Genomic Variants
    for CEP41 gene

    (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

    10/820 NCBI SNPs in CEP41 are shown (see all 820)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs113833231,2
    		C--124415500(+) AAAAAA/-CTTAA 4 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs787529971,2
    		F,--129418581(+) ACATTC/TAAATT 4 -- ds50011Minor allele frequency- T:0.03NA 120
    rs587691431,2
    		C,--129418931(+) ATTCAT/CGCAAC 4 -- ds50012Minor allele frequency- C:0.10CSA WA 120
    rs173898981,2
    		C,F,H,--129418940(+) ACTTAT/CGTTTC 4 -- ds500122Minor allele frequency- C:0.08NA NS EA CSA WA 2446
    rs749518111,2
    		F,--129419907(+) CTCCAG/AAATGA 4 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.02WA 118
    rs731528671,2
    		--129421727(+) GTTGGC/TAGTTT 4 -- ut31 nc-transcript-variant0--------
    rs737218891,2
    		C,--129422604(+) GAGAAG/AAATAA 4 -- ut31 nc-transcript-variant2Minor allele frequency- A:0.07WA 120
    rs47281961,2
    		H--129422617(+) ACACTC/TTAAAA 4 -- nc-transcript-variantut314Minor allele frequency- T:0.00NS EA 420
    rs102693071,2
    		H--129422728(+) TGTGGT/GGCAtt 4 -- nc-transcript-variantut31 ese34Minor allele frequency- G:0.00NS EA 398
    rs125385461,2
    		H--129422761(+) tttGGT/GGGCGA 4 -- nc-transcript-variantut31 ese34Minor allele frequency- G:0.00NS EA 418

    HapMap Linkage Disequilibrium report for CEP41 (130036375 - 130082274 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CEP41: --
    Human Gene Mutation Database (HGMD): CEP41

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP41
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP41

    Disorders / Diseases
    for CEP41 gene

    (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
    CEP41 for disorders           About GeneDecksing

    OMIM gene information: 610523    OMIM disorders: --

    UniProtKB/Swiss-Prot: CEP41_HUMAN, Q9BYV8
  • Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15) [MIM:614464]. JBTS15 is 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=Genetic variations in CEP41 may be associated with susceptibility to autism

    • 7 diseases for CEP41:    About MalaCards
    joubert syndrome    autism spectrum disorder    retinitis    intrahepatic cholangiocarcinoma
    liver fibrosis    cholangiocarcinoma    fibrosis


    Export disorders for CEP41 gene to outside databases

    Publications
    for CEP41 gene

    (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 CEP41 gene, integrated from 9 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. (2012)
    2. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2, 3 Andersen J.S....Mann M. (2003)
    3. Mutations in the TSGA14 gene in families with autism spectrum disorders. (PubMed id 21438139)1, 2 Korvatska O....Raskind W.H. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    7. The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. (PubMed id 12034494)1, 2 Yamada T.... Kishino T. (2002)
    8. Methylation and expression analyses of the 7q autism s usceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid prima te cortices. (PubMed id 22456293)1 Schneider E....Haaf T. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (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. (2009)

    External Searches for CEP41 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CEP41 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 95681 HGNC: 12370 AceView: TSGA14 Ensembl:ENSG00000106477 euGenes: HUgn95681
    ECgene: CEP41 H-InvDB: CEP41

    Other Databases showing CEP41 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CEP41 gene

    (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 CEP41 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CEP41 gene

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



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