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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83987
Gene name	Coiled-coil domain containing 8 subunit of 3M complex
Gene symbol	CCDC8
Synonyms (NCBI Gene)	3M3PPP1R20p90
Chromosome	19
Chromosome location	19q13.32
Summary	This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs752254407	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1568590155	->A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044884	hsa-miR-193a-3p	CLASH	23622248
MIRT869892	hsa-miR-10a	CLIP-seq
MIRT869893	hsa-miR-10b	CLIP-seq
MIRT869894	hsa-miR-1285	CLIP-seq
MIRT869895	hsa-miR-1304	CLIP-seq
MIRT869896	hsa-miR-147	CLIP-seq
MIRT869897	hsa-miR-1827	CLIP-seq
MIRT869898	hsa-miR-24	CLIP-seq
MIRT869899	hsa-miR-338-3p	CLIP-seq
MIRT869900	hsa-miR-339-5p	CLIP-seq
MIRT869901	hsa-miR-3607-3p	CLIP-seq
MIRT869902	hsa-miR-3614-5p	CLIP-seq
MIRT869903	hsa-miR-3686	CLIP-seq
MIRT869904	hsa-miR-3911	CLIP-seq
MIRT869905	hsa-miR-4284	CLIP-seq
MIRT869906	hsa-miR-4421	CLIP-seq
MIRT869907	hsa-miR-4459	CLIP-seq
MIRT869908	hsa-miR-4722-5p	CLIP-seq
MIRT869909	hsa-miR-504	CLIP-seq
MIRT869910	hsa-miR-593	CLIP-seq
MIRT869911	hsa-miR-644	CLIP-seq
MIRT869912	hsa-miR-766	CLIP-seq
MIRT869913	hsa-miR-940	CLIP-seq
MIRT1958118	hsa-miR-1224-5p	CLIP-seq
MIRT869895	hsa-miR-1304	CLIP-seq
MIRT1958119	hsa-miR-219-1-3p	CLIP-seq
MIRT1958120	hsa-miR-33a	CLIP-seq
MIRT1958121	hsa-miR-33b	CLIP-seq
MIRT1958122	hsa-miR-3646	CLIP-seq
MIRT1958123	hsa-miR-3915	CLIP-seq
MIRT1958124	hsa-miR-3928	CLIP-seq
MIRT1958125	hsa-miR-4689	CLIP-seq
MIRT1958126	hsa-miR-571	CLIP-seq
MIRT869895	hsa-miR-1304	CLIP-seq
MIRT869897	hsa-miR-1827	CLIP-seq
MIRT869902	hsa-miR-3614-5p	CLIP-seq
MIRT2195068	hsa-miR-3616-5p	CLIP-seq
MIRT2195069	hsa-miR-3647-5p	CLIP-seq
MIRT2195070	hsa-miR-4257	CLIP-seq
MIRT869907	hsa-miR-4459	CLIP-seq
MIRT2195071	hsa-miR-4670-3p	CLIP-seq
MIRT869908	hsa-miR-4722-5p	CLIP-seq
MIRT2195072	hsa-miR-573	CLIP-seq
MIRT869913	hsa-miR-940	CLIP-seq
MIRT869895	hsa-miR-1304	CLIP-seq
MIRT869892	hsa-miR-10a	CLIP-seq
MIRT869893	hsa-miR-10b	CLIP-seq
MIRT869894	hsa-miR-1285	CLIP-seq
MIRT869895	hsa-miR-1304	CLIP-seq
MIRT2498400	hsa-miR-1323	CLIP-seq
MIRT869897	hsa-miR-1827	CLIP-seq
MIRT2498401	hsa-miR-3122	CLIP-seq
MIRT2498402	hsa-miR-330-3p	CLIP-seq
MIRT869899	hsa-miR-338-3p	CLIP-seq
MIRT869900	hsa-miR-339-5p	CLIP-seq
MIRT869901	hsa-miR-3607-3p	CLIP-seq
MIRT869902	hsa-miR-3614-5p	CLIP-seq
MIRT869903	hsa-miR-3686	CLIP-seq
MIRT2498403	hsa-miR-3689a-3p	CLIP-seq
MIRT2498404	hsa-miR-3689c	CLIP-seq
MIRT2498405	hsa-miR-3913-5p	CLIP-seq
MIRT2498406	hsa-miR-4282	CLIP-seq
MIRT2498407	hsa-miR-4310	CLIP-seq
MIRT869906	hsa-miR-4421	CLIP-seq
MIRT2498408	hsa-miR-4422	CLIP-seq
MIRT869907	hsa-miR-4459	CLIP-seq
MIRT869908	hsa-miR-4722-5p	CLIP-seq
MIRT2498409	hsa-miR-4728-5p	CLIP-seq
MIRT869909	hsa-miR-504	CLIP-seq
MIRT2498410	hsa-miR-548c-3p	CLIP-seq
MIRT2498411	hsa-miR-548o	CLIP-seq
MIRT869910	hsa-miR-593	CLIP-seq
MIRT869912	hsa-miR-766	CLIP-seq
MIRT869913	hsa-miR-940	CLIP-seq
MIRT869892	hsa-miR-10a	CLIP-seq
MIRT869893	hsa-miR-10b	CLIP-seq
MIRT869894	hsa-miR-1285	CLIP-seq
MIRT869895	hsa-miR-1304	CLIP-seq
MIRT869897	hsa-miR-1827	CLIP-seq
MIRT2498401	hsa-miR-3122	CLIP-seq
MIRT869899	hsa-miR-338-3p	CLIP-seq
MIRT869900	hsa-miR-339-5p	CLIP-seq
MIRT869901	hsa-miR-3607-3p	CLIP-seq
MIRT869902	hsa-miR-3614-5p	CLIP-seq
MIRT869903	hsa-miR-3686	CLIP-seq
MIRT2498403	hsa-miR-3689a-3p	CLIP-seq
MIRT2498404	hsa-miR-3689c	CLIP-seq
MIRT2498405	hsa-miR-3913-5p	CLIP-seq
MIRT2498406	hsa-miR-4282	CLIP-seq
MIRT2498407	hsa-miR-4310	CLIP-seq
MIRT869906	hsa-miR-4421	CLIP-seq
MIRT869907	hsa-miR-4459	CLIP-seq
MIRT869908	hsa-miR-4722-5p	CLIP-seq
MIRT2498409	hsa-miR-4728-5p	CLIP-seq
MIRT869909	hsa-miR-504	CLIP-seq
MIRT869910	hsa-miR-593	CLIP-seq
MIRT869912	hsa-miR-766	CLIP-seq
MIRT869913	hsa-miR-940	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	24793695
GO:0005515	Function	Protein binding	IPI	25752541
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	24793695
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	24793695
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007088	Process	Regulation of mitotic nuclear division	IBA
GO:0007088	Process	Regulation of mitotic nuclear division	IMP	24793695
GO:1990393	Component	3M complex	IBA
GO:1990393	Component	3M complex	IDA	24793695

MIM	HGNC	e!Ensembl
614145	25367	ENSG00000169515

Q9H0W5

Protein name

Coiled-coil domain-containing protein 8

Protein function

Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:247936

PDB

4LG6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14893	PNMA	1 → 116	PNMA	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver. {ECO:0000269|PubMed:21737058}.

Sequence

MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIME
KSTPHPPQPPKKPKEPRVRRRVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQG
PRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQEKQPSAPPARRRVNLPVPMF
EDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAP
EGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAA
DSQREEAIADQREGAAGNQRAGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQR
EEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQGSEVTDNQREEAVHDQRERAP
AVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRF
QTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEARAEAEQGEQEDQL

Sequence length

538

Interactions

View interactions

	Reactome
			Neddylation

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3M syndrome 3	Likely pathogenic; Pathogenic	rs1973237748, rs2513602574, rs752254407, rs1568590155, rs1973248576, rs746873023	RCV001329462 RCV003990920 RCV000024100 RCV000024101 RCV001198938 RCV001283853

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CCDC8-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs145266047, rs143467587, rs200336737, rs145184332, rs148450169, rs200189331, rs140574202	RCV003913433 RCV003923791 RCV003951145 RCV003905988 RCV003920707 RCV003948372 RCV003932908
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs557334540	RCV004558104
Immunodeficiency	Uncertain significance	rs145652080	RCV001007938

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Biliary Atresia	Associate	36350824
Breast Neoplasms	Associate	38235137
Carcinoma Hepatocellular	Associate	28700999
Carcinoma Renal Cell	Associate	34569727
Glioma	Associate	19544381
Growth Disorders	Associate	24711643, 24793695, 25752541, 28675896
Laron Syndrome	Associate	34136918
Miller McKusick Malvaux Syndrome (3M Syndrome)	Associate	21737058, 23517720, 24711643, 25752541, 28675896, 32141654, 33107243, 34136918, 37877343
Musculoskeletal Abnormalities	Associate	25752541
Neoplasms	Associate	19544381
Renal Insufficiency	Associate	24711643

CCDC8 (coiled-coil domain containing 8 subunit of 3M complex)