Gene Gene information from NCBI Gene database.
Entrez ID 80323
Gene name Coiled-coil domain containing 68
Gene symbol CCDC68
Synonyms (NCBI Gene)
SE57-1
Chromosome 18
Chromosome location 18q21.2
miRNA miRNA information provided by mirtarbase database.
62
miRTarBase ID miRNA Experiments Reference
MIRT022785 hsa-miR-124-3p Microarray 18668037
MIRT628349 hsa-miR-6808-5p HITS-CLIP 23824327
MIRT628348 hsa-miR-6893-5p HITS-CLIP 23824327
MIRT628347 hsa-miR-940 HITS-CLIP 23824327
MIRT628346 hsa-miR-4768-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 28422092, 28514442, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IBA
GO:0005814 Component Centriole IDA 28422092
GO:0005814 Component Centriole IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616909 24350 ENSG00000166510
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2F9
Protein name Coiled-coil domain-containing protein 68 (Cutaneous T-cell lymphoma-associated antigen se57-1) (CTCL-associated antigen se57-1)
Protein function Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical su
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in bone marrow, colon, small intestine, spleen, testis, trachea and cutaneous T-cell lymphoma (CTCL). {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:15142679}.
Sequence
MTTVTVTTEIPPRDKMEDNSALYESTSAHIIEETEYVKKIRTTLQKIRTQMFKDEIRHDS
TNHKLDAKHCGNLQQGSDSEMDPSCCSLDLLMKKIKGKDLQLLEMNKENEVLKIKLQASR
EAGAAALRNVAQRLFENYQTQSEEVRKKQEDSKQLLQVNKLEKEQKLKQHVENLNQVAEK
LEEKHSQITELENLVQRMEKEKRTLLERKLSLENKLLQLKSSATYGKSCQDLQREISILQ
EQISHLQFVIHSQHQNLRSVIQEMEGLKNNLKEQDKRIENLREKVNILEAQNKELKTQVA
LSSETPRTKVSKAVSTSELKTEGVSPYLMLIRLRK
Sequence length 335
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Recurrent spontaneous abortion Likely pathogenic rs2044011378 RCV001250896
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 19359472
Neoplasms Inhibit 19359472