Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80323
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 68
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCDC68
Synonyms (NCBI Gene) Gene synonyms aliases
SE57-1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616909 24350 ENSG00000166510
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 19359472
Neoplasms Inhibit 19359472