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Aliases for CCDC114 Gene

Aliases for CCDC114 Gene

  • Coiled-Coil Domain Containing 114 2 3 5
  • Coiled-Coil Domain-Containing Protein 114 3
  • CILD20 3

External Ids for CCDC114 Gene

Previous GeneCards Identifiers for CCDC114 Gene

  • GC19M053492
  • GC19M048799
  • GC19M045180

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 and Primary Ciliary Dyskinesia20: Ccdc114-Related Primary Ciliary Dyskinesia. 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC114 Gene

Genomics for CCDC114 Gene

Regulatory Elements for CCDC114 Gene

Enhancers for CCDC114 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G048290 1.3 Ensembl ENCODE 35.1 +31.7 31735 1.9 HDGF CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 ZNF2 ZNF143 FOS CCDC114 SYNGR4 TMEM143 GC19P048288 EMP3
GH19G048308 1.5 Ensembl ENCODE dbSUPER 26.8 +12.8 12789 3.1 HDGF PKNOX1 ZFP64 ARID4B SIN3A YY1 ZNF143 KLF13 SP3 NFYC CCDC114 KDELR1 NOP53-AS1 CYTH2 RPL18 BICRA GRWD1 ZNF114 EMP3 GC19P048288
GH19G048316 0.7 ENCODE 39.6 +5.5 5471 1.0 SOX13 ESRRA FOXA2 SAP130 JUN RARA FOSL1 CTBP1 GATA3 NR2F6 CCDC114 EMP3 GC19P048288
GH19G048362 1.2 ENCODE 19.9 -41.2 -41198 2.7 CREB3L1 YBX1 FEZF1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D SSRP1 RPL18 NOP53-AS1 ENSG00000268746 KDELR1 CCDC114 BICRA GRWD1 SNORD23 DKKL1 EHD2
GH19G048395 1.8 FANTOM5 Ensembl ENCODE 12.4 -75.9 -75925 6.3 CREB3L1 DMAP1 YBX1 YY1 ZNF143 SP3 MCM3 NFYC MEF2D ZNF610 BICRA CCDC114 GRIN2D GRWD1 PPP1R15A CARD8-AS1 EMP3 FUT1 IZUMO1 KDELR1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC114 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC114 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110688 1095 1001 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A FEZF1 YY1 ZNF766 ZNF143

Genomic Location for CCDC114 Gene

Chromosome:
19
Start:
48,296,452 bp from pter
End:
48,322,795 bp from pter
Size:
26,344 bases
Orientation:
Minus strand

Genomic View for CCDC114 Gene

Genes around CCDC114 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC114 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC114 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:25192045). Interacts with TTC25; this interaction may facilitate the recruitment and/or attachment of outer dynein arm docking complex proteins, including CCDC114, CCDC151 and ARMC4, to ciliary axonemes (PubMed:27486780).
    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

Post-translational modifications for CCDC114 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC114 Gene

Domains & Families for CCDC114 Gene

Protein Domains for CCDC114 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC114 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96M63

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for CCDC114 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC114 gene
Compartment Confidence
cytoskeleton 5
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,IEA 23261303
GO:0005930 axoneme IDA 25192045
GO:0036157 outer dynein arm IMP 23261303
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CCDC114: view

Pathways & Interactions 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:0003341 cilium movement IMP 23261302
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 and SIGNOR curated interactions for CCDC114 Gene

Drugs & Compounds for CCDC114 Gene

No Compound Related Data Available

Transcripts for CCDC114 Gene

Unigene Clusters for CCDC114 Gene

Coiled-coil domain containing 114:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC114 Gene

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

This gene is overexpressed in Testis (x14.8), Fallopian Tube (x9.6), and Cervix - Endocervix (x5.1).

Protein differential expression in normal tissues from HIPED for CCDC114 Gene

This gene is overexpressed in Plasma (25.5), Heart (21.9), Pancreatic juice (15.0), and Monocytes (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCDC114 Gene



Protein tissue co-expression partners for CCDC114 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC114 Gene:

CCDC114

SOURCE GeneReport for Unigene cluster for CCDC114 Gene:

Hs.112645

Evidence on tissue expression from TISSUES for CCDC114 Gene

  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC114 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with CCDC114: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CCDC114 Gene

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 34 35
  • 98.33 (n)
dog
(Canis familiaris)
Mammalia CCDC114 34 35
  • 79.91 (n)
cow
(Bos Taurus)
Mammalia CCDC114 34 35
  • 75.59 (n)
mouse
(Mus musculus)
Mammalia Ccdc114 34 16 35
  • 72.96 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc114 34
  • 71.74 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC114 35
  • 24 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CCDC114 35
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14905 35
  • 21 (a)
ManyToMany
CG17083 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToOne
Species where no ortholog for CCDC114 was found in the sources mined by GeneCards:
  • 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
rs147718607 Pathogenic 48,303,953(+) CTCAC(C/T)CTGCT reference, missense
rs201133219 Pathogenic 48,297,995(+) TGCGC(C/T)TCACA intron-variant, downstream-variant-500B
rs606231238 Pathogenic 48,311,552(-) AGAAG(A/G)TCAGT splice-donor-variant
rs606231239 Pathogenic 48,306,325(-) CCCAC(A/G)GGAGA upstream-variant-2KB, splice-acceptor-variant
rs606231240 Pathogenic 48,303,034(-) GAGCA(-/T)GTGCA reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv3616n100 CNV loss 25217958
esv34181 CNV loss 18971310
esv3644583 CNV gain 21293372
nsv1109202 CNV deletion 24896259
nsv469623 CNV loss 16826518
nsv833854 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for CCDC114 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.24; 88.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC114 Gene

Human Gene Mutation Database (HGMD)
CCDC114
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC114

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC114 Gene

Disorders for CCDC114 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CCDC114 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 20
  • primary ciliary dyskinesia 20
primary ciliary dyskinesia20: ccdc114-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 20
primary ciliary dyskinesia
  • ciliary motility disorder
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CCDC114

Genetic Association Database (GAD)
CCDC114
Human Genome Epidemiology (HuGE) Navigator
CCDC114
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC114
genes like me logo Genes that share disorders with CCDC114: view

No data available for Genatlas for CCDC114 Gene

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 64
  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 64
  3. 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 64
  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 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CCDC114 Gene

Sources for CCDC114 Gene

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