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Aliases for CCDC114 Gene

Aliases for CCDC114 Gene

  • Coiled-Coil Domain Containing 114 2 3
  • CILD20 3 6
  • Coiled-Coil Domain-Containing Protein 114 3

External Ids for CCDC114 Gene

Summaries for CCDC114 Gene

Entrez Gene Summary for CCDC114 Gene

  • This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]

GeneCards Summary for CCDC114 Gene

CCDC114 (Coiled-Coil Domain Containing 114) is a Protein Coding gene. Diseases associated with CCDC114 include ciliary dyskinesia, primary, 20. An important paralog of this gene is CCDC63.

UniProtKB/Swiss-Prot for CCDC114 Gene

  • Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC114 Gene

Genomics for CCDC114 Gene

Genomic Location for CCDC114 Gene

Start:
48,296,452 bp from pter
End:
48,321,934 bp from pter
Size:
25,483 bases
Orientation:
Minus strand

Genomic View for CCDC114 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC114 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC114 Gene

Regulatory Elements for CCDC114 Gene

Proteins for CCDC114 Gene

  • Protein details for CCDC114 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96M63-CC114_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 114
    Protein Accession:
    Q96M63
    Secondary Accessions:
    • Q6ZRL4
    • Q96M06
    • Q9UFG8

    Protein attributes for CCDC114 Gene

    Size:
    670 amino acids
    Molecular mass:
    75046 Da
    Quaternary structure:
    • Interacts with CCDC151.
    SequenceCaution:
    • Sequence=BAB71448.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAC87296.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC114 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC114 Gene

Proteomics data for CCDC114 Gene at MOPED

Post-translational modifications for CCDC114 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC114 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC114 Gene

Domains for CCDC114 Gene

Protein Domains for CCDC114 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CC114_HUMAN
Family:
  • Belongs to the ODA1/DCC2 family.:
    • Q96M63
genes like me logo Genes that share domains with CCDC114: view

No data available for Gene Families for CCDC114 Gene

Function for CCDC114 Gene

Molecular function for CCDC114 Gene

UniProtKB/Swiss-Prot Function: Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms.

Gene Ontology (GO) - Molecular Function for CCDC114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25192045
genes like me logo Genes that share ontologies with CCDC114: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CCDC114 Gene

Localization for CCDC114 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC114 Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC114 Gene COMPARTMENTS Subcellular localization image for CCDC114 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CCDC114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IDA 23261303
GO:0036157 outer dynein arm IMP 23261303
genes like me logo Genes that share ontologies with CCDC114: view

Pathways for CCDC114 Gene

SuperPathways for CCDC114 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036158 outer dynein arm assembly IMP 23261302
genes like me logo Genes that share ontologies with CCDC114: view

No data available for Pathways by source for CCDC114 Gene

Transcripts for CCDC114 Gene

Unigene Clusters for CCDC114 Gene

Coiled-coil domain containing 114:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC114 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - -
SP5: - -
SP6: - - - - - - -
SP7: -
SP8: - - -
SP9:
SP10: - - - - - - - - - -

ExUns: 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CCDC114 Gene

GeneLoc Exon Structure for
CCDC114
ECgene alternative splicing isoforms for
CCDC114

Expression for CCDC114 Gene

mRNA expression in normal human tissues for CCDC114 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC114 Gene

This gene is overexpressed in Testis (14.8), Fallopian Tube (9.6), and Cervix - Endocervix (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CCDC114 Gene

SOURCE GeneReport for Unigene cluster for CCDC114 Gene Hs.112645

genes like me logo Genes that share expressions with CCDC114: view

Orthologs for CCDC114 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC114 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC114 36
  • 98.33 (n)
  • 97.79 (a)
CCDC114 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC114 36
  • 75.59 (n)
  • 63.64 (a)
CCDC114 37
  • 58 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC114 36
  • 79.91 (n)
  • 71.93 (a)
CCDC114 37
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc114 36
  • 72.96 (n)
  • 64.82 (a)
Ccdc114 16
Ccdc114 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc114 36
  • 71.74 (n)
  • 65.13 (a)
lizard
(Anolis carolinensis)
Reptilia CCDC114 37
  • 24 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CCDC114 37
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14905 37
  • 21 (a)
ManyToMany
CG17083 37
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 26 (a)
OneToOne
Species with no ortholog for CCDC114:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC114 Gene

ENSEMBL:
Gene Tree for CCDC114 (if available)
TreeFam:
Gene Tree for CCDC114 (if available)

Paralogs for CCDC114 Gene

Paralogs for CCDC114 Gene

genes like me logo Genes that share paralogs with CCDC114: view

Variants for CCDC114 Gene

Sequence variations from dbSNP and Humsavar for CCDC114 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs156673 -- 48,319,248(-) AGAAA(G/T)GTTGG intron-variant
rs156674 -- 48,319,272(-) TGTGC(A/G)GGAAG intron-variant
rs249368 -- 48,313,938(-) gtggc(A/G)ttctc intron-variant
rs249369 -- 48,314,150(-) ttctc(C/T)tgcct intron-variant
rs249370 -- 48,314,636(-) TTTTA(C/T)TGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC114 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
esv34181 CNV Loss 18971310
nsv469623 CNV Complex 16826518
nsv833854 CNV Loss 17160897

Relevant External Links for CCDC114 Gene

HapMap Linkage Disequilibrium report
CCDC114
Human Gene Mutation Database (HGMD)
CCDC114

Disorders for CCDC114 Gene

(1) OMIM Diseases for CCDC114 Gene (615038)

UniProtKB/Swiss-Prot

CC114_HUMAN
  • Ciliary dyskinesia, primary, 20 (CILD20) [MIM:615067]: 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. Patients may 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. {ECO:0000269 PubMed:23261302, ECO:0000269 PubMed:23261303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CCDC114 Gene

Relevant External Links for CCDC114

Genetic Association Database (GAD)
CCDC114
Human Genome Epidemiology (HuGE) Navigator
CCDC114
genes like me logo Genes that share disorders with CCDC114: view

Publications for CCDC114 Gene

  1. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. (PMID: 23261302) Knowles M.R. … Zariwala M.A. (Am. J. Hum. Genet. 2013) 2 3 4
  2. Splice-Site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. (PMID: 23261303) Onoufriadis A. … Mitchison H.M. (Am. J. Hum. Genet. 2013) 2 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. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49
  5. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. (PMID: 25192045) Hjeij R. … Mitchison H.M. (Am. J. Hum. Genet. 2014) 3 4

Products for CCDC114 Gene

Sources for CCDC114 Gene

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