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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	80323
Gene name	Coiled-coil domain containing 68
Gene symbol	CCDC68
Synonyms (NCBI Gene)	SE57-1
Chromosome	18
Chromosome location	18q21.2

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

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)

Show/Hide Causal Diseases (1)

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)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	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.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

CCDC68 (coiled-coil domain containing 68)