Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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83987 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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CCDC8 |
SynonymsGene synonyms aliases
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3M3, PPP1R20, p90 |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19q13.32 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs752254407 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1568590155 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF14893 |
PNMA |
1 → 116 |
PNMA |
Family |
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Sequence |
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Camptodactyly of fingers |
Clinodactyly of the 5th finger |
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Developmental dysplasia of the hip |
Congenital Dysplasia Of The Hip |
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Dolichocephaly |
Long narrow head |
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Dwarfism |
Dwarfism, Dwarfism tall vertebrae |
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21737058 |
Frontal bossing |
Frontal bossing |
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Hypospadias |
Hypospadias |
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Micromelia |
Micromelia |
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Vertical talus |
Vertical Talus |
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