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Aliases for CCDC40 Gene

Aliases for CCDC40 Gene

  • Coiled-Coil Domain Containing 40 2 3
  • KIAA1640 4 6
  • Coiled-Coil Domain-Containing Protein 40 3
  • CILD15 3
  • FAP172 3

External Ids for CCDC40 Gene

Previous GeneCards Identifiers for CCDC40 Gene

  • GC17P075637
  • GC17P078010
  • GC17P073449

Summaries for CCDC40 Gene

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 for CCDC40 Gene

  • Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974)..

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC40 Gene

Genomics for CCDC40 Gene

Regulatory Elements for CCDC40 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CCDC40 Gene

Start:
80,036,632 bp from pter
End:
80,100,613 bp from pter
Size:
63,982 bases
Orientation:
Plus strand

Genomic View for CCDC40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC40 Gene

Proteins for CCDC40 Gene

  • Protein details for CCDC40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0X9-CCD40_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 40
    Protein Accession:
    Q4G0X9
    Secondary Accessions:
    • A8MTD2
    • C9JTI9
    • C9JTJ0
    • C9JXW1
    • J3QSY2
    • Q6PE47
    • Q9HCD2
    • Q9NWL5

    Protein attributes for CCDC40 Gene

    Size:
    1142 amino acids
    Molecular mass:
    130113 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB13466.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC40 Gene

Proteomics data for CCDC40 Gene at MOPED

Post-translational modifications for CCDC40 Gene

  • Ubiquitination at Lys994
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCDC40 Gene

Domains for CCDC40 Gene

Protein Domains for CCDC40 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4G0X9

UniProtKB/Swiss-Prot:

CCD40_HUMAN :
  • Q4G0X9
Family:
  • Belongs to the CCDC40 family.
genes like me logo Genes that share domains with CCDC40: view

No data available for Gene Families for CCDC40 Gene

Function for CCDC40 Gene

Molecular function for CCDC40 Gene

UniProtKB/Swiss-Prot Function: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974)..

Gene Ontology (GO) - Molecular Function for CCDC40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CCDC40: view
genes like me logo Genes that share phenotypes with CCDC40: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CCDC40 Gene

Localization for CCDC40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC40 Gene

Cytoplasm. Cell projection, cilium. Note=Localizes to cytoplasm and motile cilium. {ECO:0000250 UniProtKB:Q8BI79}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC40 Gene COMPARTMENTS Subcellular localization image for CCDC40 gene
Compartment Confidence
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CCDC40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005929 cilium ISS --
genes like me logo Genes that share ontologies with CCDC40: view

Pathways for CCDC40 Gene

SuperPathways for CCDC40 Gene

No Data Available

Interacting Proteins for CCDC40 Gene

Selected Interacting proteins: Q4G0X9-CCD40_HUMAN for CCDC40 Gene via I2D

Symbol External ID(s) Details
MAP2K5

Gene Ontology (GO) - Biological Process for CCDC40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IMP 22693285
GO:0003341 cilium movement --
GO:0003351 epithelial cilium movement IMP 21131974
GO:0003356 regulation of cilium beat frequency IMP 21131974
GO:0030324 lung development IMP 22693285
genes like me logo Genes that share ontologies with CCDC40: view

No data available for Pathways by source for CCDC40 Gene

Transcripts for CCDC40 Gene

Unigene Clusters for CCDC40 Gene

Coiled-coil domain containing 40:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CCDC40

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC40 Gene

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:
SP6: - - - - - - -
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12: - -

ExUns: 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b
SP1: -
SP2: - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CCDC40 Gene

GeneLoc Exon Structure for
CCDC40
ECgene alternative splicing isoforms for
CCDC40

Expression for CCDC40 Gene

mRNA expression in normal human tissues for CCDC40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC40 Gene

This gene is overexpressed in Testis (4.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CCDC40 Gene

SOURCE GeneReport for Unigene cluster for CCDC40 Gene Hs.202542

genes like me logo Genes that share expressions with CCDC40: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CCDC40 Gene

Orthologs for CCDC40 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC40 35
  • 98.57 (n)
  • 97.9 (a)
CCDC40 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC40 35
  • 78.12 (n)
  • 69.62 (a)
CCDC40 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC40 35
  • 76.79 (n)
  • 68.62 (a)
CCDC40 36
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc40 35
  • 73.25 (n)
  • 65.12 (a)
Ccdc40 16
Ccdc40 36
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC40 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC40 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc40 35
  • 76.04 (n)
  • 68.47 (a)
chicken
(Gallus gallus)
Aves CCDC40 35
  • 61.91 (n)
  • 50.92 (a)
CCDC40 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC40 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486955 35
  • 59.16 (n)
  • 50.69 (a)
Str.11059 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6406 35
zebrafish
(Danio rerio)
Actinopterygii ccdc40 35
  • 50.95 (n)
  • 39.73 (a)
ccdc40 36
  • 37 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009129 35
  • 46.01 (n)
  • 25.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)41Ab 35
  • 40.45 (n)
  • 28.51 (a)
l(2)41Ab 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for CCDC40:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC40 Gene

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

Paralogs for CCDC40 Gene

No data available for Paralogs for CCDC40 Gene

Variants for CCDC40 Gene

Sequence variations from dbSNP and Humsavar for CCDC40 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs715041 -- 80,084,633(+) CGTTT(A/G)GAATA intron-variant
rs753030 -- 80,052,114(-) GACCG(G/T)GGGCT intron-variant
rs894307 -- 80,092,756(+) cgggc(A/G)cacac intron-variant
rs1134515 -- 80,059,418(+) GGGTG(A/G)AAGCT intron-variant
rs1467979 -- 80,086,944(+) AGTAT(C/T)GGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC40 Gene

Variant ID Type Subtype PubMed ID
nsv833561 CNV Loss 17160897
nsv908971 CNV Loss 21882294
esv2673221 CNV Deletion 23128226
nsv828122 CNV Loss 20364138
esv271948 CNV Insertion 20981092
esv273978 CNV Insertion 20981092
esv1580229 CNV Insertion 17803354
nsv469591 CNV Loss 16826518
esv990091 CNV Deletion 20482838
esv2716356 CNV Deletion 23290073
esv1736428 CNV Deletion 17803354
esv2716357 CNV Deletion 23290073
esv2716358 CNV Deletion 23290073

Relevant External Links for CCDC40 Gene

HapMap Linkage Disequilibrium report
CCDC40
Human Gene Mutation Database (HGMD)
CCDC40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC40 Gene

Disorders for CCDC40 Gene

(1) OMIM Diseases for CCDC40 Gene (613799)

UniProtKB/Swiss-Prot

CCD40_HUMAN
  • 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. {ECO:0000269 PubMed:21131974, ECO:0000269 PubMed:22693285, ECO:0000269 PubMed:23255504, ECO:0000269 PubMed:23402890, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry. The disease is characterized by primary ciliary dyskinesia with inner dynein arm (IDA) defects and axonemal dizorganisation: defects in CCDC39 and CCDC40 constitute the major cause of this phenotype. {ECO:0000269 PubMed:22693285, ECO:0000269 PubMed:23255504}.

(1) University of Copenhagen DISEASES for CCDC40 Gene

Relevant External Links for CCDC40

Genetic Association Database (GAD)
CCDC40
genes like me logo Genes that share disorders with CCDC40: view

Publications for CCDC40 Gene

  1. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. (PMID: 21131974) Becker-Heck A. … Burdine R.D. (Nat. Genet. 2011) 2 3 4
  2. 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. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. (PMID: 22693285) Blanchon S. … Amselem S. (J. Med. Genet. 2012) 3 4
  5. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. (PMID: 23255504) Antony D. … Mitchison H.M. (Hum. Mutat. 2013) 3 4

Products for CCDC40 Gene

Sources for CCDC40 Gene

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