Aliases for CCDC14 Gene

Aliases for CCDC14 Gene

  • Coiled-Coil Domain Containing 14 2 3 5
  • Coiled-Coil Domain-Containing Protein 14 3 4
  • DKFZp434L1050 2
  • FLJ12892 2
  • CCDC14 5

External Ids for CCDC14 Gene

Previous GeneCards Identifiers for CCDC14 Gene

  • GC03M125116
  • GC03M123616
  • GC03M121005

Summaries for CCDC14 Gene

GeneCards Summary for CCDC14 Gene

CCDC14 (Coiled-Coil Domain Containing 14) is a Protein Coding gene. Diseases associated with CCDC14 include Primary Autosomal Recessive Microcephaly and Microcephaly.

UniProtKB/Swiss-Prot Summary for CCDC14 Gene

  • Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC14 Gene

Genomics for CCDC14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC14 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
GH03J123960 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 608.1 +0.5 511 2.2 GATAD2A PRDM10 TFE3 IKZF1 POLR2A GABPA ZNF143 RBFOX2 PATZ1 IKZF2 CCDC14 lnc-CCDC14-1 ROPN1 MYLK
GH03J123949 Promoter/Enhancer 0.6 EPDnew ENCODE 600.4 +11.4 11446 0.8 ZNF146 CCDC14 ROPN1 lnc-CCDC14-1 MYLK
GH03J123883 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 +77.4 77411 2.4 PRDM10 KDM1A PRDM1 PATZ1 POLR2A ZNF600 ZNF341 KLF9 ZNF316 USF1 MYLK CCDC14 lnc-CCDC14-2 HACD2
GH03J123979 Promoter 0.8 CraniofacialAtlas 8.1 -18.6 -18642 0.6 CTCF ZNF692 ZNF143 RAD21 ZNF444 YY1 IKZF1 ZFP69B ZNF654 ZNF18 CCDC14 ROPN1
GH03J123328 Enhancer 1 Ensembl ENCODE dbSUPER 4.4 +630.7 630732 3.8 CTCF ZNF692 ZNF143 ZIC2 REST RAD21 TRIM22 GABPA GTF2F1 YY1 piR-32484 SEC22A ADCY5 CCDC14 RF00951-110
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC14

Top Transcription factor binding sites by QIAGEN in the CCDC14 gene promoter:
  • ATF6
  • c-Myb
  • Cart-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO4
  • IRF-7A
  • MAZR
  • Sox5
  • TGIF

Genomic Locations for CCDC14 Gene

Genomic Locations for CCDC14 Gene
chr3:123,887,383-123,961,412
(GRCh38/hg38)
Size:
74,030 bases
Orientation:
Minus strand
chr3:123,616,152-123,680,564
(GRCh37/hg19)
Size:
64,413 bases
Orientation:
Minus strand

Genomic View for CCDC14 Gene

Genes around CCDC14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC14 Gene

Proteins for CCDC14 Gene

  • Protein details for CCDC14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q49A88-CCD14_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 14
    Protein Accession:
    Q49A88
    Secondary Accessions:
    • B7Z2Q3
    • B7Z2T2
    • B8ZZ41
    • B8ZZ58
    • D3DN98
    • Q7Z3N3
    • Q86T30
    • Q8IWF8
    • Q8WUJ8
    • Q96K47
    • Q9H9A3
    • Q9UFH0

    Protein attributes for CCDC14 Gene

    Size:
    953 amino acids
    Molecular mass:
    106302 Da
    Quaternary structure:
    • Interacts with CEP63.
    SequenceCaution:
    • Sequence=BAB14329.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55229.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAH11939.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC14 Gene

neXtProt entry for CCDC14 Gene

Post-translational modifications for CCDC14 Gene

  • Ubiquitination at Lys291, Lys389, Lys551, Lys606, Lys649, and Lys821
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCDC14 Gene

Domains & Families for CCDC14 Gene

Gene Families for CCDC14 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC14 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC14 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 14 (CCD14_HUMAN)
genes like me logo Genes that share domains with CCDC14: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC14 Gene

Function for CCDC14 Gene

Molecular function for CCDC14 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization.

Phenotypes From GWAS Catalog for CCDC14 Gene

Gene Ontology (GO) - Molecular Function for CCDC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17043677
genes like me logo Genes that share ontologies with CCDC14: view
genes like me logo Genes that share phenotypes with CCDC14: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC14

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC14 Gene

Localization for CCDC14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC14 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Colocalizes with PCM1 at centriolar satellites throughout the cell cycle. {ECO:0000269 PubMed:26297806}.

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 CCDC14 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0034451 centriolar satellite IDA 26297806
genes like me logo Genes that share ontologies with CCDC14: view

Pathways & Interactions for CCDC14 Gene

PathCards logo

SuperPathways for CCDC14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021762 substantia nigra development HEP 22926577
GO:0071539 protein localization to centrosome IMP 26297806
genes like me logo Genes that share ontologies with CCDC14: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC14 Gene

Drugs & Compounds for CCDC14 Gene

No Compound Related Data Available

Transcripts for CCDC14 Gene

mRNA/cDNA for CCDC14 Gene

7 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC14

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC14 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e ·
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - - - - - - -
SP10: - - - - - - -
SP11: - - - - - - - - -
SP12: -
SP13:
SP14: - - - - - - - - - - -
SP15: - - - - - - - -
SP16: - - - - - - - - - -
SP17: - - - - - - - - -
SP18:
SP19: -
SP20: - - - - - - - - - - - - - - - - - - - -
SP21:

ExUns: 10f ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c
SP1: -
SP2: - - -
SP3: -
SP4: -
SP5: - - -
SP6:
SP7:
SP8: - - - -
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - - - - - - - - -
SP21:

Relevant External Links for CCDC14 Gene

GeneLoc Exon Structure for
CCDC14

Expression for CCDC14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC14 Gene

Protein differential expression in normal tissues from HIPED for CCDC14 Gene

This gene is overexpressed in Colon muscle (49.3) and Heart (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC14 Gene



Protein tissue co-expression partners for CCDC14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC14

SOURCE GeneReport for Unigene cluster for CCDC14 Gene:

Hs.645028

Evidence on tissue expression from TISSUES for CCDC14 Gene

  • Nervous system(4.7)
  • Bone marrow(4.3)
  • Kidney(4.3)
  • Eye(4)
genes like me logo Genes that share expression patterns with CCDC14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC14 Gene

Orthologs for CCDC14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC14 30 31
  • 99.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC14 30 31
  • 84.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC14 30 31
  • 84.45 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccdc14 30 17 31
  • 76.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc14 30
  • 75.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 46 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CCDC14 30 31
  • 57.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC14 31
  • 36 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491976 30
  • 50.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14290 30
Zebrafish
(Danio rerio)
Actinopterygii ccdc14 31
  • 22 (a)
OneToOne
Species where no ortholog for CCDC14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 CCDC14 Gene

ENSEMBL:
Gene Tree for CCDC14 (if available)
TreeFam:
Gene Tree for CCDC14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC14: view image

Paralogs for CCDC14 Gene

Pseudogenes.org Pseudogenes for CCDC14 Gene

genes like me logo Genes that share paralogs with CCDC14: view

No data available for Paralogs for CCDC14 Gene

Variants for CCDC14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC14 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs17310144 - p.Thr365Pro

Additional dbSNP identifiers (rs#s) for CCDC14 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC14 Gene

Variant ID Type Subtype PubMed ID
esv2725842 CNV deletion 23290073
esv2725843 CNV deletion 23290073
esv2725844 CNV deletion 23290073
esv2725845 CNV deletion 23290073
esv3597633 CNV gain 21293372
esv3597635 CNV gain 21293372
esv5313 CNV loss 18987735
nsv1007525 CNV loss 25217958
nsv460837 CNV gain 19166990
nsv520308 CNV gain 19592680
nsv591428 CNV gain 21841781
nsv591430 CNV loss 21841781

Variation tolerance for CCDC14 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC14 Gene

Human Gene Mutation Database (HGMD)
CCDC14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC14 Gene

Disorders for CCDC14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC14 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary autosomal recessive microcephaly
  • mcph
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC14

genes like me logo Genes that share disorders with CCDC14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC14 Gene

Publications for CCDC14 Gene

  1. Proximity interactions among centrosome components identify regulators of centriole duplication. (PMID: 24613305) Firat-Karalar EN … Stearns T (Current biology : CB 2014) 2 3 4
  2. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A … Reiter JF (eLife 2015) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3

Products for CCDC14 Gene

Sources for CCDC14 Gene