Gene Gene information from NCBI Gene database.
Entrez ID 150275
Gene name Coiled-coil domain containing 117
Gene symbol CCDC117
Synonyms (NCBI Gene)
dJ366L4.1
Chromosome 22
Chromosome location 22q12.1
miRNA miRNA information provided by mirtarbase database.
776
miRTarBase ID miRNA Experiments Reference
MIRT047933 hsa-miR-30c-5p CLASH 23622248
MIRT045862 hsa-miR-128-3p CLASH 23622248
MIRT037035 hsa-miR-877-3p CLASH 23622248
MIRT628361 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT628360 hsa-miR-548ah-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19875381, 25036637, 30742009, 33961781, 35271311
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005819 Component Spindle IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWD4
Protein name Coiled-coil domain-containing protein 117
Protein function Facilitates DNA repair, cell cycle progression, and cell proliferation through its interaction with CIAO2B.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15810 CCDC117 141 279 Coiled-coil domain-containing protein 117 Family
Sequence
MAALGRPFSGLPLSGGSDFLQPPQPAFPGRAFPPGADGAELAPRPGPRAVPSSPAGSAAR
GRVSVHCKKKHKREEEEDDDCPVRKKRITEAELCAGPNDWILCAHQDVEGHGVNPSVSGL
SIPGILDVICEEMDQTTGEPQCEVARRKLQEIEDRIIDEDEEVEADRNVNHLPSLVLSDT
MKTGLKREFDEVFTKKMIESMSRPSMELVLWKPLPELLSDKPKPSSNTKNYTGESQAKHV
AAGTAFPQRTELFSEPRPTGMSLYNSLETATSTEEEMEL
Sequence length 279
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations