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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 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.

Additional gene information for CCDC114 Gene

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

GeneHancer (GH) Regulatory Elements for CCDC114 Gene

Promoters and enhancers for CCDC114 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I048319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561.5 -1.1 -1147 8.2 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D CCDC114 EMP3 KDELR1 SNORD23 NOP53 RPL18 BICRA GRWD1 NOP53-AS1 TMEM143
GH19I048362 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.9 -41.2 -41198 2.7 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A YY1 POLR2B ZNF766 TMEM143 SYNGR4 KDELR1 BAX CCDC114 GRWD1 BICRA SNORD23 TRPM4 RPL18
GH19I048290 Enhancer 1.1 Ensembl ENCODE 35.1 +31.7 31734 1.9 ATF1 ARID4B SIN3A ZNF2 ZNF48 ARID2 ZNF143 FOS REST KAT8 CCDC114 SYNGR4 TMEM143 GC19P048288 EMP3
GH19I048308 Enhancer 1.2 Ensembl ENCODE dbSUPER 26.8 +12.8 12788 3.1 ELF3 RB1 ZFP64 ARID4B SIN3A RAD21 ZNF48 RARA ZNF335 CREM CCDC114 KDELR1 NOP53 NOP53-AS1 CYTH2 RPL18 BAX BICRA GRWD1 ZNF114
GH19I048269 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 13.9 +52.0 52039 3 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 ZNF121 ZNF143 RUNX3 SP5 ZNF114 LOC105372429 CCDC114 CARD8-AS1 TMEM143
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC114 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC114 gene promoter:

Genomic Locations for CCDC114 Gene

Genomic Locations for CCDC114 Gene
chr19:48,296,452-48,322,795
(GRCh38/hg38)
Size:
26,344 bases
Orientation:
Minus strand
chr19:48,799,709-48,825,151
(GRCh37/hg19)

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

Gene Families for CCDC114 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CCDC114 Gene

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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 IEA,IDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCDC114 Gene

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:

Clone 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
Regions:
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

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 33 34
  • 98.33 (n)
dog
(Canis familiaris)
Mammalia CCDC114 33 34
  • 79.91 (n)
cow
(Bos Taurus)
Mammalia CCDC114 33 34
  • 75.59 (n)
mouse
(Mus musculus)
Mammalia Ccdc114 33 16 34
  • 72.96 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc114 33
  • 71.74 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC114 34
  • 24 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CCDC114 34
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14905 34
  • 21 (a)
ManyToMany
CG17083 34
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs10416590 benign, not specified, Primary ciliary dyskinesia 48,306,328(-) G/C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1060500990 likely-pathogenic, Primary ciliary dyskinesia 48,303,645(-) C/T intron_variant
rs1060500991 uncertain-significance, Primary ciliary dyskinesia 48,318,401(-) C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1060504128 likely-benign, Primary ciliary dyskinesia 48,306,332(-) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs113520498 uncertain-significance, Primary ciliary dyskinesia 48,304,103(-) G/A coding_sequence_variant, missense_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)

Additional Variant Information 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

(5) MalaCards diseases for CCDC114 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 20
  • cild20
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • pcd
visceral heterotaxy
  • heterotaxia
- 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.

Additional Disease Information for CCDC114

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MR … Genetic Disorders of Mucociliary Clearance Consortium (American journal of human genetics 2013) 2 3 4 58
  2. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. (PMID: 23261303) Onoufriadis A … Mitchison HM (American journal of human genetics 2013) 2 3 4 58
  3. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. (PMID: 25192045) Hjeij R … Mitchison HM (American journal of human genetics 2014) 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CCDC114 Gene

Sources for CCDC114 Gene

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