CCDC116 (coiled-coil domain containing 116)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 164592
Gene name Coiled-coil domain containing 116
Gene symbol CCDC116
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q11.21
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 25074808
GO:0005813 Component Centrosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYX3
Protein name Coiled-coil domain-containing protein 116
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15774 DUF4702 18 → 404 Domain of unknown function (DUF4702) Family
Sequence
Sequence length 613
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology Other IDs Protein Associated diseases
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 Unknown Diseases (5)
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
MYOSITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
ACTH Secreting Pituitary Adenoma Associate 23072936
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 23072936
★★★★★
★☆☆☆☆
Found in Text Mining only
Non functioning pancreatic endocrine tumor Associate 23072936
★★★★★
★☆☆☆☆
Found in Text Mining only
Somatostatinoma Associate 23072936
★★★★★
★☆☆☆☆
Found in Text Mining only