GediPNet logo

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

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83987
Gene nameGene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 8 subunit of 3M complex
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CCDC8
SynonymsGene synonyms aliases
3M3, PPP1R20, p90
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs752254407 ->C Pathogenic Frameshift variant, coding sequence variant
rs1568590155 ->A Pathogenic Coding sequence variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA 21873635
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIME
KSTPHPPQPPKKPKEPRVRRRVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDK
SRQG
PRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQEKQPSAPPARRRVNLPVPMF
EDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAP
EGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAA
DSQREEAIADQREGAAGNQRAGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQR
EEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQGSEVTDNQREEAVHDQRERAP
AVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRF
QTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEARAEAEQGEQEDQL
Sequence length 538
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Neddylation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
3m syndrome Miller-McKusick-Malvaux-Syndrome (3M Syndrome), Three M Syndrome 1, THREE M SYNDROME 3, 3M syndrome rs121918215, rs1335171880, rs121918216, rs121918228, rs121918229, rs730880261, rs730880262, rs730880263, rs752254407, rs1568590155, rs201406974, rs786205651, rs61752334, rs762334954, rs749509661, rs864309521, rs886042376, rs748555538, rs1057518716, rs1064792895, rs775865076, rs1554138553, rs746333044, rs1553538488, rs760910667, rs1561875767, rs1561892336, rs1561898352, rs760929207, rs1559155954, rs1561873941, rs1561881909, rs1559160379, rs1023630527, rs766471384, rs1581962986, rs1581930130, rs773698181 21737058, 28675896, 21737058, 28675896, 21737058
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Unknown
Disease name Disease term dbSNP ID References
Camptodactyly of fingers Clinodactyly of the 5th finger
Developmental dysplasia of the hip Congenital Dysplasia Of The Hip
Dolichocephaly Long narrow head
Dwarfism Dwarfism, Dwarfism tall vertebrae 21737058

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412