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CCDC40 Gene

protein-coding   GIFtS: 48
GCID: GC17P078010

Coiled-Coil Domain Containing 40

  See CCDC40-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
Coiled-Coil Domain Containing 401 2
KIAA16403 5
CILD152
FAP1722
Coiled-Coil Domain-Containing Protein 402

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ciliary dyskinesia, primary, 15, and primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for CCDC40

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 40  
Size: 1142 amino acids; 130113 Da
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: 

  • Ubiquitination2 at Lys994
  • Modification sites at PhosphoSitePlus

  • See CCDC40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000380679   ENSP00000269318   ENSP00000364010   ENSP00000459489   ENSP00000460002  
     ENSP00000460432   ENSP00000461034   ENSP00000364011  

    CCDC40 Human Recombinant Protein Products:

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

     
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    antibodies-online proteins for CCDC40 (2 products) 

     
    antibodies-online peptides for CCDC40

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    (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:
     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


    Find genes that share domains with CCDC40           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with CCDC40           About GenesLikeMe


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

    Find genes that share phenotypes with CCDC40           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CCDC40

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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC40

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    (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
    CCD40_HUMAN, Q4G0X9: Cytoplasm (By similarity). Cell projection, cilium (By similarity). Note=Localizes to
    cytoplasm and motile cilium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with CCDC40           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCDC40
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (see all 10):    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--

    Find genes that share ontologies with CCDC40           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 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,
    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 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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    GenScript: all cDNA clones in your preferred vector: CCDC40 (NM_017950)
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC40
      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 

    Selected AceView cDNA sequences (see all 64):

    AI370331 AL713758 AB046860 BF062469 AI537879 AA398274 AW589487 AA383228 
    AI393590 C20655 BX283359 AV718925 BQ680825 BU183342 AA054499 AA431750 
    AA948009 AK056583 AL705485 AI872461 AK130684 AI191633 BI831172 BU157163 

    GeneLoc Exon Structure

    Selected 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™, 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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    CCDC40 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Neural Tube (Nervous System)
             Diencephalic Roof Plate
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    CCDC40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC40 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.202542
        Custom PCR Arrays for CCDC40
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CCDC40 gene from Selected 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 73.25(n)1
    65.12(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_420086.3  XP_420086.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC406
    coiled-coil domain containing 40
    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 50.95(n)
    39.73(a)
      568590  NM_001271813.1  NP_001258742.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)41Ab1 lethal (2) 41Ab 40.45(n)
    28.51(a)
      5740691  NM_001276227.1  NP_001263156.1 


    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)
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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 CCDC40 (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) Selected 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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613799   
    OMIM disorders: 613808  
    UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9
  • Ciliary dyskinesia, primary, 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

  • 3 diseases for CCDC40:    
    About MalaCards
    ciliary dyskinesia, primary, 15    primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia    ciliary dyskinesia, primary, 19

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

    Find genes that share disorders with CCDC40           About GenesLikeMe

    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)
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    PubMed articles for CCDC40 gene, integrated from 10 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 essential for motile cilia function and left-right axis formation. (PubMed id 21131974)1, 2, 3 Becker-Heck A....Burdine R.D. (Nat. Genet. 2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (DNA Res. 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. (Hum. Mutat. 2013)
    5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    6. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. (PubMed id 22693285)1 Blanchon S....Amselem S. (J. Med. Genet. 2012)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis. (PubMed id 20714864)1 Wang J....Yang Y. (J. Huazhong Univ. Sci. Technol. Med. Sci. 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. (BMC Med. Genet. 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. (Genome Res. 2006)

    (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)
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    Entrez Gene: 55036 HGNC: 26090 AceView: FLJ20753 Ensembl:ENSG00000141519 euGenes: HUgn55036
    ECgene: CCDC40 H-InvDB: CCDC40

    (According to HUGE)
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    HUGE: KIAA1640

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

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    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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