CCDC66 (coiled-coil domain containing 66)

Gene

• Entrez ID: 285331
• Gene name: Coiled-coil domain containing 66
• Gene symbol: CCDC66
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3p14.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT869607	hsa-miR-300	CLIP-seq
MIRT869608	hsa-miR-374a	CLIP-seq
MIRT869609	hsa-miR-374b	CLIP-seq
MIRT869610	hsa-miR-376c	CLIP-seq
MIRT869611	hsa-miR-381	CLIP-seq
MIRT869612	hsa-miR-4666-3p	CLIP-seq
MIRT869613	hsa-miR-7	CLIP-seq
MIRT869607	hsa-miR-300	CLIP-seq
MIRT2195032	hsa-miR-3120-3p	CLIP-seq
MIRT869610	hsa-miR-376c	CLIP-seq
MIRT869611	hsa-miR-381	CLIP-seq
MIRT2195033	hsa-miR-4310	CLIP-seq
MIRT869612	hsa-miR-4666-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	35849559
GO:0001578	Process	Microtubule bundle formation	IDA	35849559
GO:0001578	Process	Microtubule bundle formation	IMP	28235840
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001895	Process	Retina homeostasis	ISS
GO:0001917	Component	Photoreceptor inner segment	IBA
GO:0001917	Component	Photoreceptor inner segment	IDA	19777273
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	28235840, 32453716, 35849559, 36606424
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	28235840, 35849559, 36606424
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	35849559
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	28235840
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	28235840, 36606424
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	36606424
GO:0007020	Process	Microtubule nucleation	IMP	35849559
GO:0007052	Process	Mitotic spindle organization	IMP	35849559
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	35849559
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	28235840
GO:0030030	Process	Cell projection organization	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030496	Component	Midbody	IDA	35849559
GO:0030496	Component	Midbody	IEA
GO:0032465	Process	Regulation of cytokinesis	IMP	35849559
GO:0034451	Component	Centriolar satellite	IDA	26638075, 28235840, 35849559, 36606424
GO:0034451	Component	Centriolar satellite	IEA
GO:0035869	Component	Ciliary transition zone	IDA	28235840
GO:0036064	Component	Ciliary basal body	IDA	28235840, 36606424
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	28235840, 36606424
GO:0090307	Process	Mitotic spindle assembly	IMP	35849559
GO:0090543	Component	Flemming body	IDA
GO:1902850	Process	Microtubule cytoskeleton organization involved in mitosis	IMP	35849559
GO:1903564	Process	Regulation of protein localization to cilium	IMP	28235840
GO:1905349	Process	Ciliary transition zone assembly	IMP	36606424

Other IDs

• MIM: 619287
• HGNC: 27709
• e!Ensembl: ENSG00000180376

Protein

• UniProt ID: A2RUB6
• Protein name: Coiled-coil domain-containing protein 66
• Protein function: Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15236	CCDC66	411 → 564	Coiled-coil domain-containing protein 66	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (at protein level) (PubMed:28235840). Expressed in retina, mainly in photoreceptors but also in outer plexiform and ganglion cell layers (at protein level) (PubMed:19777273). {ECO:0000269|PubMed:19777273, ECO:0000269|P
• Sequence:

  MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDT
  CIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQK
  TRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEA
  KSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENE
  WKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKI
  IWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEH
  DRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSE
  EEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRR
  KKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQ
  ELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTY
  MNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQ
  ELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYP
  KQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKE
  EEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGI
  SESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPN
  MVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF

• Sequence length: 948

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29855336		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	31669510		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28249903		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31669510		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35069793	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34252882	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30443988		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31173287		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28249903		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	34979511	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	28235840, 31582766	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28369829		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28369829		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21680557		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31173287		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35264065	Associate	★☆☆☆☆ Found in Text Mining only