Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCDC66 Gene

Aliases for CCDC66 Gene

  • Coiled-Coil Domain Containing 66 2 3 5

External Ids for CCDC66 Gene

Summaries for CCDC66 Gene

GeneCards Summary for CCDC66 Gene

CCDC66 (Coiled-Coil Domain Containing 66) is a Protein Coding gene. Diseases associated with CCDC66 include Leber Congenital Amaurosis 9.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC66 Gene

Genomics for CCDC66 Gene

Regulatory Elements for CCDC66 Gene

Enhancers for CCDC66 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
GH03G056556 1 ENCODE 24.4 +0.4 412 2.1 HDGF ATF1 ARID4B SIN3A ZNF143 ZNF207 FOS ZNF263 NFYC TBX21 CCDC66 FAM208A
GH03G056680 1.1 ENCODE 18.3 +125.3 125255 3.1 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 CBX5 FAM208A CCDC66
GH03G056692 1 Ensembl ENCODE 17.5 +137.2 137248 3.5 PKNOX1 MTA2 CBFB TRIM22 BMI1 TBX21 RAD51 POLR2A IKZF1 TARDBP FAM208A CCDC66 GC03M056697
GH03G056779 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.5 +229.1 229064 13.4 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 FEZF1 YY1 CBX5 ZNF143 ARHGEF3 CCDC66 FAM208A GC03P056724 GC03M056906
GH03G056724 1.2 ENCODE dbSUPER 12.8 +168.8 168818 2.6 FOXA2 ARID4B YY1 ZNF121 GATA2 CBX5 FOS JUNB TBX21 KAT8 CCDC66 ARHGEF3 GC03P056724 GC03M056906
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC66 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC66 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152970 190 2200 HDGF ATF1 ARID4B SIN3A ZNF143 ZNF207 FOS ZNF263 NFYC TBX21

Genomic Location for CCDC66 Gene

56,557,111 bp from pter
56,621,836 bp from pter
64,726 bases
Plus strand

Genomic View for CCDC66 Gene

Genes around CCDC66 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC66 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC66 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC66 Gene

Proteins for CCDC66 Gene

  • Protein details for CCDC66 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 66
    Protein Accession:
    Secondary Accessions:
    • B3KWL8
    • Q4VC34
    • Q8N949

    Protein attributes for CCDC66 Gene

    948 amino acids
    Molecular mass:
    109411 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH47509.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI32828.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04607.1; Type=Frameshift; Positions=214; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC66 Gene


neXtProt entry for CCDC66 Gene

Post-translational modifications for CCDC66 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC66 Gene

Domains & Families for CCDC66 Gene

Protein Domains for CCDC66 Gene


Suggested Antigen Peptide Sequences for CCDC66 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC66: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC66 Gene

Function for CCDC66 Gene

genes like me logo Genes that share phenotypes with CCDC66: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC66 Gene

Localization for CCDC66 Gene

Subcellular locations from

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 CCDC66 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC66 Gene

Pathways & Interactions for CCDC66 Gene

SuperPathways for CCDC66 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC66 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046548 retinal rod cell development IEA --
GO:0050908 detection of light stimulus involved in visual perception IEA --
GO:0060060 post-embryonic retina morphogenesis in camera-type eye IEA --
genes like me logo Genes that share ontologies with CCDC66: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC66 Gene

Transcripts for CCDC66 Gene

Unigene Clusters for CCDC66 Gene

Coiled-coil domain containing 66:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC66 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP6: - - - -
SP7: - -

Relevant External Links for CCDC66 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC66 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC66 Gene

Protein differential expression in normal tissues from HIPED for CCDC66 Gene

This gene is overexpressed in Esophagus (27.4), Neutrophil (18.9), and Plasma (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC66 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC66 Gene:


SOURCE GeneReport for Unigene cluster for CCDC66 Gene:


Evidence on tissue expression from TISSUES for CCDC66 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CCDC66: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC66 Gene

Orthologs for CCDC66 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC66 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC66 34 35
  • 99.44 (n)
(Canis familiaris)
Mammalia CCDC66 34 35
  • 87.68 (n)
(Bos Taurus)
Mammalia CCDC66 34 35
  • 86.6 (n)
(Mus musculus)
Mammalia Ccdc66 34 16 35
  • 79.48 (n)
(Rattus norvegicus)
Mammalia Ccdc66 34
  • 77.19 (n)
(Ornithorhynchus anatinus)
Mammalia CCDC66 35
  • 55 (a)
(Monodelphis domestica)
Mammalia CCDC66 35
  • 49 (a)
(Gallus gallus)
Aves CCDC66 34 35
  • 64.91 (n)
(Anolis carolinensis)
Reptilia CCDC66 35
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc66 34
  • 52.62 (n)
(Danio rerio)
Actinopterygii LOC796628 34
  • 51.93 (n)
CCDC66 (1 of 2) 35
  • 33 (a)
CCDC66 (2 of 2) 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2586 35
  • 35 (a)
Species where no ortholog for CCDC66 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC66 Gene

Gene Tree for CCDC66 (if available)
Gene Tree for CCDC66 (if available)

Paralogs for CCDC66 Gene

No data available for Paralogs for CCDC66 Gene

Variants for CCDC66 Gene

Sequence variations from dbSNP and Humsavar for CCDC66 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000019575 -- 56,596,609(+) GTTCA(A/G)TGTAG intron-variant
rs1000070018 -- 56,555,283(+) AGGCA(C/T)AAGCC upstream-variant-2KB
rs1000108522 -- 56,594,700(+) GAAAT(A/C)TAATG intron-variant
rs1000168210 -- 56,617,885(+) TATGC(C/T)TATCG intron-variant, downstream-variant-500B
rs1000207920 -- 56,618,326(+) GAAAG(C/G)GTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC66 Gene

Variant ID Type Subtype PubMed ID
dgv2526n106 CNV deletion 24896259
dgv808n67 CNV loss 20364138
esv1141708 CNV deletion 17803354
esv1966969 CNV deletion 18987734
esv21892 CNV loss 19812545
esv2555353 CNV deletion 19546169
esv2621307 CNV deletion 19546169
esv2659644 CNV deletion 23128226
esv2671315 CNV deletion 23128226
esv2678954 CNV deletion 23128226
esv2725303 CNV deletion 23290073
esv2725304 CNV deletion 23290073
esv2725305 CNV deletion 23290073
esv2725306 CNV deletion 23290073
esv2762329 CNV loss 21179565
esv3123 CNV loss 18987735
esv3561919 CNV deletion 23714750
esv3568762 CNV loss 25503493
esv3596212 CNV loss 21293372
esv3596213 CNV loss 21293372
esv3596214 CNV loss 21293372
esv3596215 CNV loss 21293372
nsv1073647 CNV deletion 25765185
nsv435762 CNV deletion 17901297
nsv460557 CNV loss 19166990
nsv528087 CNV loss 19592680
nsv590362 CNV loss 21841781
nsv820061 CNV loss 19587683
nsv956272 CNV deletion 24416366

Variation tolerance for CCDC66 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.11; 93.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC66 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC66 Gene

Disorders for CCDC66 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC66 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber congenital amaurosis 9
  • lca9
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC66

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CCDC66: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC66 Gene

Publications for CCDC66 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking. (PMID: 28235840) Conkar D. … Firat-Karalar E.N. (J. Cell. Sci. 2017) 3 64
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for CCDC66 Gene

Sources for CCDC66 Gene

Loading form....