CCDC116 (coiled-coil domain containing 116)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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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 
MARCRHHSGYLADDEASHSMCSARVQLPKKPLVPEMRPACKPGRVPHPPSTCGSSALQGQ
RRNKRHPQPFGHFLDFLTESQVLDSLETVVEKATERMAAMKTEAGVPLVEVQDPVEVPSG
GRRAHARPSLSTVHRHRVRPTLCTGHPNNYPSSSSSMSNCHSSLMAGCLGSHSRDSDLGA
QGSLPPVRDKLLLEKNLKRLLQLEREGKGLSQSCSQRDSLLWDSLGSQTSFQWTQEQPLS
WFSGLLGSSSGVPEASEPRPGEQEPIFRKREFNKEIKSLLSQLESLDLPGYCPLREPHRT
LNFLADHRLFPALQSVVSQAVDKLRGAHCRDGRPLFPTSLEPTSDLPPLGSEPAKPTNGG
QPYASPRPTVSSPKMLQRKRKDRGGSPSMSSAQVATRFKLKSPCSSSRFTKKKPLPSISS
KSSMSHFSNRLYEELADFLTQQAASLVIRKYEFEKDLSKQLGFFSFPITHVLRDLSLGLK
KVKGSRIHLSSETHRSCLLRKLEESKRARQASRLSTSHCSTETPSVQQEPATHTAQDQAT
EPCRSLYTNLPASRQLSPLEPKLYMSACTGMGSSPPKSKDMDNEGRDKAEIEDEDEDEFK
DEDQDEDKDEDGV
Sequence length 613
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
MYOSITIS — GWAS catalog 26362759, 30573655
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS — GWAS catalog 35507331
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS — GWAS catalog 30573655
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog 26502338, 30573655
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA — GWAS catalog 30573655
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma of lung Lung carcinoma BEFREE 28653172, 29193083
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 28653172
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 28653172, 29193083
★★★★★
★☆☆☆☆
Found in Text Mining only
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YDJC 3 shared diseasesPsoriatic arthritis, Myositis, Systemic sclerosis 3 shared evidence sourcesGWAS catalog (Myositis), GWAS catalog (Psoriatic arthritis), GWAS catalog (Systemic sclerosis) Related via 3 shared diseases including Psoriatic arthritis, Myositis — evidence mostly GWAS catalog. EIF4H 2 shared diseasesMyositis, Systemic sclerosis 2 shared evidence sourcesGWAS catalog (Myositis), GWAS catalog (Systemic sclerosis) Related via 2 shared diseases including Myositis, Systemic sclerosis — evidence mostly GWAS catalog. ARL14 2 shared diseasesMyositis, Systemic sclerosis 2 shared evidence sourcesGWAS catalog (Myositis), GWAS catalog (Systemic sclerosis) Related via 2 shared diseases including Myositis, Systemic sclerosis — evidence mostly GWAS catalog. SMG7 2 shared diseasesMyositis, Systemic sclerosis 2 shared evidence sourcesGWAS catalog (Myositis), GWAS catalog (Systemic sclerosis) Related via 2 shared diseases including Myositis, Systemic sclerosis — evidence mostly GWAS catalog. SCT 2 shared diseasesMyositis, Systemic sclerosis 2 shared evidence sourcesGWAS catalog (Myositis), GWAS catalog (Systemic sclerosis) Related via 2 shared diseases including Myositis, Systemic sclerosis — evidence mostly GWAS catalog.
Celiac disease Linked via 2 of 5 related genesYDJC, SMG7 Atrial fibrillation Linked via 1 of 5 related genesYDJC Crohn disease Linked via 1 of 5 related genesYDJC Immune system disease Linked via 1 of 5 related genesYDJC Inflammatory bowel disease Linked via 1 of 5 related genesYDJC