Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	285331
Gene name Gene Name - the full gene name approved by the HGNC.	Coiled-coil domain containing 66
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CCDC66
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p14.3

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(50)

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

MIM	HGNC	e!Ensembl
619287	27709	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gastritis	Gastritis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colorectal Neoplasms	Associate	35069793
Glioma	Associate	34252882
Neoplasm Metastasis	Associate	34252882
Neoplasms	Associate	34252882, 34979511, 35264065
Osteoarthritis	Stimulate	34979511
Retinal Degeneration	Associate	28235840, 31582766
Thyroid Cancer Papillary	Associate	35264065

CCDC66 (coiled-coil domain containing 66)