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

CCDC40 Gene

protein-coding   GIFtS: 47
GCID: GC17P078010

Coiled-Coil Domain Containing 40

  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

Aliases
Coiled-Coil Domain Containing 401 2
CILD152
Coiled-Coil Domain-Containing Protein 402
KIAA16403

External Ids:    HGNC: 260901   Entrez Gene: 550362   Ensembl: ENSG000001415197   OMIM: 6137995   UniProtKB: Q4G0X93   

Export aliases for CCDC40 gene to outside databases

Previous GC identifers: GC17P075637 GC17P073449


(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 CCDC40 Gene:
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis
formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control
ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia
motility. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2011)

GeneCards Summary for CCDC40 Gene: 
CCDC40 (coiled-coil domain containing 40) is a protein-coding gene. Diseases associated with CCDC40 include primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia, and kartagener syndrome. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9
Function: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are
responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not
required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC40 gene promoter:
         SREBP-1c   AP-2gamma   GATA-1   SREBP-1b   RORalpha1   SREBP-1a   AP-2beta   AP-2alpha   MRF-2   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CCDC40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC40


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

CCDC40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC40 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P078010:  view genomic region     (about GC identifiers)

Start:
78,010,435 bp from pter      End:
78,074,412 bp from pter
Size:
63,978 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 40  
Size: 1142 amino acids; 130113 Da
Subcellular location: Cytoplasm (By similarity). Cell projection, cilium (By similarity). Note=Localizes to
cytoplasm and motile cilium (By similarity)
Sequence caution: Sequence=BAB13466.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8MTD2 C9JTI9 C9JTJ0 C9JXW1 Q6PE47 Q9HCD2 Q9NWL5
Alternative splicing: 5 isoforms:  Q4G0X9-1   Q4G0X9-2   Q4G0X9-3   Q4G0X9-4   Q4G0X9-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC40: NX_Q4G0X9

Explore proteomics data for CCDC40 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4G0X9

  • CCDC40 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC40 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001230271.1  NP_060420.2  

    ENSEMBL proteins: 
     ENSP00000380679   ENSP00000269318   ENSP00000364010   ENSP00000459489   ENSP00000460002  
     ENSP00000460432   ENSP00000461034   ENSP00000364011  

    Human Recombinant Protein Products for CCDC40: 
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    Novus Biologicals CCDC40 Protein
    Novus Biologicals CCDC40 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CCDC40 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005929cilium ISS--

    CCDC40 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CCDC40


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR013956 E3_ubiquit_lig_BRE1

    Graphical View of Domain Structure for InterPro Entry Q4G0X9

    ProtoNet protein and cluster: Q4G0X9

    UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9
    Similarity: Belongs to the CCDC40 family


    CCDC40 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCD40_HUMAN, Q4G0X9
    Function: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are
    responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not
    required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    CCDC40 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ccdc40):
     embryogenesis  growth/size  mortality/aging  nervous system  renal/urinary system 
     respiratory system 

    CCDC40 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC40 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CCDC40

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC40 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCDC40 

    miRNA
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    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene ORF clones in mouse, rat for CCDC40
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    GenScript: all cDNA clones in your preferred vector: CCDC40 (NM_017950)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC40
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC40


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC40

    1 Interacting protein for CCDC40 (Q4G0X93) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP2K5Q131633I2D: score=2 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001947heart looping IMP--
    GO:0003341cilium movement ----
    GO:0003351epithelial cilium movement IMP--
    GO:0003356regulation of cilium beat frequency IMP--
    GO:0030324lung development IMP--

    CCDC40 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 CCDC40 (CCD40)

    Search CenterWatch for drugs/clinical trials and news about CCDC40 / CCD40

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCDC40 gene (2 alternative transcripts): 
    NM_001243342.1  NM_017950.3  

    Unigene Cluster for CCDC40:

    Coiled-coil domain containing 40
    Hs.202542  [show with all ESTs]
    Unigene Representative Sequence: NM_017950
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397545(uc010dht.3 uc002jxn.4) ENST00000572270 ENST00000269318
    ENST00000374876(uc010wub.2) ENST00000576033 ENST00000574099 ENST00000572083
    ENST00000576241 ENST00000573474 ENST00000574799(uc002jxm.4) ENST00000571028
    ENST00000572253 ENST00000575431 ENST00000574933 ENST00000573903 ENST00000374877(uc021uem.1)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC40
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CCDC40
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CCDC40
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC40
    Clone
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    OriGene clones in human, mouse for CCDC40 (see all 8)
    OriGene ORF clones in mouse, rat for CCDC40
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    GenScript: all cDNA clones in your preferred vector: CCDC40 (NM_017950)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC40
    Sirion Biotech Customized lentivirus for stable overexpression of CCDC40 
                         Customized lentivirus expression plasmids for stable overexpression of CCDC40 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC40
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCDC40
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC40
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC40

    Additional mRNA sequence: 

    AB046860.1 AK000760.1 AK056583.1 AK130684.1 BC035251.1 BC058288.1 

    12 DOTS entries:

    DT.97762761  DT.208063  DT.438063  DT.86836082  DT.95157274  DT.101967131  DT.40237038  DT.102826333 
    DT.91965710  DT.97825373  DT.99991067  DT.95086587 

    24/64 AceView cDNA sequences (see all 64):

    AW589487 AA398274 AB046860 BF062469 AL713758 AI370331 AA383228 AI537879 
    AA912165 AV718925 AI002121 BU183342 BE797388 BP359726 BX283359 BU607343 
    BQ680825 AK000760 AW182267 BU189020 AL704428 BC058288 AA431750 AA948009 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC40 (see all 12)    About this scheme

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

    ExUns: 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b
    SP1:                                -                                                   
    SP2:                                -                                   -               
    SP3:                                                                                    
    SP4:                                -                                   -               
    SP5:                                                                                    


    ECgene alternative splicing isoforms for CCDC40

    (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

    CCDC40 expression in normal human tissues (normalized intensities)      CCDC40 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCCATTTG
    CCDC40 Expression
    About this image


    CCDC40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Neural Tube (Nervous System)
             Diencephalic Roof Plate

    See CCDC40 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC40

    SOURCE GeneReport for Unigene cluster: Hs.202542
        SABiosciences Custom PCR Arrays for CCDC40
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC40
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC40

    (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 animals.

    Orthologs for CCDC40 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc401 , 5 coiled-coil domain containing 401, 5 72.08(n)1
    64.09(a)1
      11 (83.35 cM)5
    2076071  NM_175430.41  NP_780639.11 
     1192285725 
    chicken
    (Gallus gallus)
    Aves CCDC401 coiled-coil domain containing 40 61.91(n)
    50.92(a)
      422083  XM_420086.2  XP_420086.2 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC406
    Uncharacterized protein
    52(a)
    1 ↔ 1
    2(100625477-100646935)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.110592 Transcribed sequence with weak similarity to protein more 73.49(n)    141997335 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc401 coiled-coil domain containing 40 50.59(n)
    39.16(a)
      568590  XM_691926.5  XP_697018.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)41Ab1 lethal (2) 41Ab 38.58(n)
    26.25(a)
      5740691  NM_001110887.1  NP_001104357.1 


    ENSEMBL Gene Tree for CCDC40 (if available)
    TreeFam Gene Tree for CCDC40 (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, 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) 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

    10/1913 SNPs in CCDC40 are shown (see all 1913)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs48899461,2
    C,H--73450884(+) atataC/Tatata 2 -- int10--------
    rs2018477861,2
    --73457899(+) AACAA-/ACAAAAA 2 -- int10--------
    rs1131300811,2
    C--73493246(+) GGCATA/GGTGGC 2 -- int10--------
    rs573088591,2
    C--73493374(+) AAAGACAGA/-  
            
    AAGGA
    2 -- int11Minor allele frequency- -:0.00NA 2
    rs664806781,2
    C--73499171(+) CTGAT-/AAAGG 
            
    AAAGA
    2 -- int10--------
    rs1428192741,2
    C--73499171(+) CTGAT-/AAAGG 
            
    AAAGA
    2 -- int10--------
    rs766763751,2
    C--73499175(+) TAAAGA/GAAAGA 2 -- int10--------
    rs559661401,2
    C--73506465(+) CTTTTTGTT/-  
            
    CTCCT
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs3742478331,2
    C--73514015(+) TCTAC-/AAAAAA 1 -- int10--------
    rs1130419851,2
    C,F--78012356(+) CACGGG/TGACTC 2 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for CCDC40 (78010435 - 78074412 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for CCDC40 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv990091CNV Deletion20482838
    esv1736428CNV Deletion17803354
    esv2716356CNV Deletion23290073
    esv2716358CNV Deletion23290073
    esv2716357CNV Deletion23290073
    esv2673221CNV Deletion23128226
    esv273978CNV Insertion20981092
    esv271948CNV Insertion20981092
    esv1580229CNV Insertion17803354
    nsv908971CNV Loss21882294


    Human Gene Mutation Database (HGMD): CCDC40
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC40
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC40

    (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
    OMIM gene information: 613799    OMIM disorders: --

    UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9
  • Primary ciliary dyskinesia 15 (CILD15) [MIM:613808]: A disorder characterized by abnormalities of motile
    cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in
    the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails.
    Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of
    monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as
    Kartagener syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for CCDC40:    About MalaCards
    primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia    kartagener syndrome    primary ciliary dyskinesia    situs inversus
    bronchiectasis

    1 disease from the University of Copenhagen DISEASES database for CCDC40:
    Primary ciliary dyskinesia

    CCDC40 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC40

    Export disorders for CCDC40 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 CCDC40 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with CCDC40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The coiled-coil domain containing protein CCDC40 is e ssential for motile cilia function and left-right axis formation. (PubMed id 21131974)1, 2, 3 Becker-Heck A....Burdine R.D. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
    4. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. (PubMed id 23255504)1 Antony D....Mitchison H.M. (2013)
    5. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)
    6. Delineation of CCDC39/CCDC40 mutation spectrum and ass ociated phenotypes in primary ciliary dyskinesia. (PubMed id 22693285)1 Blanchon S....Amselem S. (2012)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. MCM3AP, a novel HBV integration site in hepatocellula r carcinoma and its implication in hepatocarcinogenesis. (PubMed id 20714864)1 Wang J....Yang Y. (2010)
    9. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55036 HGNC: 26090 AceView: FLJ20753 Ensembl:ENSG00000141519 euGenes: HUgn55036
    ECgene: CCDC40 H-InvDB: CCDC40

    (According to HUGE)
    About This Section
    HUGE: KIAA1640

    (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 CCDC40 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 CCDC40 gene:
    Search GeneIP for patents involving CCDC40

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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