Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	80323
Gene name	Coiled-coil domain containing 68
Gene symbol	CCDC68
Synonyms (NCBI Gene)	SE57-1
Chromosome	18
Chromosome location	18q21.2

62 Show/Hide all (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
MIRT628345	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628344	hsa-miR-1827	HITS-CLIP	23824327
MIRT628343	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628342	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628341	hsa-miR-665	HITS-CLIP	23824327
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
MIRT628345	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628344	hsa-miR-1827	HITS-CLIP	23824327
MIRT628343	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628342	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628341	hsa-miR-665	HITS-CLIP	23824327
MIRT869641	hsa-miR-106a	CLIP-seq
MIRT869642	hsa-miR-106b	CLIP-seq
MIRT869643	hsa-miR-147	CLIP-seq
MIRT869644	hsa-miR-17	CLIP-seq
MIRT869645	hsa-miR-1914	CLIP-seq
MIRT869646	hsa-miR-20a	CLIP-seq
MIRT869647	hsa-miR-20b	CLIP-seq
MIRT869648	hsa-miR-3177-5p	CLIP-seq
MIRT869649	hsa-miR-3609	CLIP-seq
MIRT869650	hsa-miR-3611	CLIP-seq
MIRT869651	hsa-miR-3653	CLIP-seq
MIRT869652	hsa-miR-3929	CLIP-seq
MIRT869653	hsa-miR-409-5p	CLIP-seq
MIRT869654	hsa-miR-4316	CLIP-seq
MIRT869655	hsa-miR-4419b	CLIP-seq
MIRT869656	hsa-miR-4427	CLIP-seq
MIRT869657	hsa-miR-4478	CLIP-seq
MIRT869658	hsa-miR-4710	CLIP-seq
MIRT869659	hsa-miR-4777-3p	CLIP-seq
MIRT869660	hsa-miR-4792	CLIP-seq
MIRT869661	hsa-miR-4796-3p	CLIP-seq
MIRT869662	hsa-miR-485-5p	CLIP-seq
MIRT869663	hsa-miR-513c	CLIP-seq
MIRT869664	hsa-miR-514b-5p	CLIP-seq
MIRT869665	hsa-miR-519d	CLIP-seq
MIRT869666	hsa-miR-548ah	CLIP-seq
MIRT869667	hsa-miR-548u	CLIP-seq
MIRT869668	hsa-miR-552	CLIP-seq
MIRT869669	hsa-miR-599	CLIP-seq
MIRT869670	hsa-miR-93	CLIP-seq
MIRT869671	hsa-miR-3161	CLIP-seq
MIRT869672	hsa-miR-3646	CLIP-seq
MIRT869652	hsa-miR-3929	CLIP-seq
MIRT869673	hsa-miR-3942-3p	CLIP-seq
MIRT869655	hsa-miR-4419b	CLIP-seq
MIRT869657	hsa-miR-4478	CLIP-seq
MIRT869674	hsa-miR-4760-5p	CLIP-seq
MIRT869675	hsa-miR-4775	CLIP-seq
MIRT2385665	hsa-miR-3607-3p	CLIP-seq
MIRT2385666	hsa-miR-3686	CLIP-seq
MIRT2385667	hsa-miR-4719	CLIP-seq
MIRT2385668	hsa-miR-4768-5p	CLIP-seq
MIRT2385669	hsa-miR-4797-3p	CLIP-seq

11 Show/Hide all (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
GO:0005856	Component	Cytoskeleton	IEA
GO:0008104	Process	Intracellular protein localization	IMP	28422092
GO:0034454	Process	Microtubule anchoring at centrosome	IBA
GO:0034454	Process	Microtubule anchoring at centrosome	IGI	28422092
GO:0034454	Process	Microtubule anchoring at centrosome	IMP	28422092
GO:0120103	Component	Centriolar subdistal appendage	IDA	28422092

MIM	HGNC	e!Ensembl
616909	24350	ENSG00000166510

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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Recurrent spontaneous abortion	Likely pathogenic	rs2044011378	RCV001250896	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (20)
ANOREXIA NERVOSA	—	GWAS catalog	31835028, 36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	23453885, 31835028, 33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	23453885, 28540026, 31835028, 33479212, 33686288	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	23453885, 31835028, 33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	30104761	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	34847940, 35661827	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	23453885, 29942085, 30643256, 30718901, 31835028, 32606422, 33479212, 33859377, 34045744, 34924174, 37464041, 38177345	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	29942085	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	30104761	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	29942085, 30643256, 32231276	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	21926974, 23453885, 23974872, 26198764, 28540026, 29483656, 30285260, 31740837, 31835028, 32606422, 33479212, 33686288, 34159505, 35396580, 36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30297969	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25381825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19359472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19359472, 25381825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25381825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23439384		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23439384		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ITIH3	4	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder","Psychiatric disorders"]	[]	4	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]
TMPRSS5	5	["Anorexia nervosa","Mood disorder","Tourette syndrome","Obsessive-compulsive disorder","Psychiatric disorders"]	[]	5	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Mood disorder)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]
C8orf90	3	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder"]	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
DGKI	3	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder"]	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
HSPE1-MOB4	3	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder"]	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]

CCDC68 (coiled-coil domain containing 68)

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