Gene Gene information from NCBI Gene database.
Entrez ID 285331
Gene name Coiled-coil domain containing 66
Gene symbol CCDC66
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p14.3
miRNA miRNA information provided by mirtarbase database.
13
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619287 27709 ENSG00000180376
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
ELAQRLKQEQRIRELAQKGHDTSR
LIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTY
MNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQ
ELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYP
KQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKE
EEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGI
SESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPN
MVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF
Sequence length 948
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs779707940 RCV005932449
Hepatocellular carcinoma Likely benign rs556945544 RCV005929072
Nonpapillary renal cell carcinoma Likely benign rs556945544 RCV005929073
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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