Gene Gene information from NCBI Gene database.
Entrez ID 160857
Gene name Coiled-coil domain containing 122
Gene symbol CCDC122
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q14.11
Summary This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017]
miRNA miRNA information provided by mirtarbase database.
309
miRTarBase ID miRNA Experiments Reference
MIRT636940 hsa-miR-6499-5p HITS-CLIP 23824327
MIRT636939 hsa-miR-4284 HITS-CLIP 23824327
MIRT636938 hsa-miR-24-3p HITS-CLIP 23824327
MIRT636937 hsa-miR-3178 HITS-CLIP 23824327
MIRT636936 hsa-miR-7977 HITS-CLIP 23824327
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613408 26478 ENSG00000151773
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T0U0
Protein name Coiled-coil domain-containing protein 122
Family and domains
Sequence
MSDNKERKSQGFPKEDNQDTSSLADAVEKVAKQQQSQASEIEKNKKVLFNLKNELHELEK
EIAAISAETKETERQIYQQDSAIENTKLHCDSLETQIKSLHSENVKLKFDIETAQEDFEE
HMIKYNAYYAKIKAHKNSLGEVESKWSFMTELHEKRDFVKKLKTMKEELMQDLQNPGGNR
ITQVQEDITNLKDKIITVKESIIEKTCFLEEEKKTHEKLRKEIEVQHKRYDAILKRLHCQ
VNKLQSNRRQWQWNIQQLEKTAAELRKCIGMQE
Sequence length 273
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
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leprosy, susceptibility to, 1 Uncertain risk allele ClinVar
★★☆☆☆
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
Leprosy Leprosy GWASDB_DG 20018961, 22019778
★☆☆☆☆
Found in Text Mining only
Leprosy Leprosy BEFREE 25367361, 26235265
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 27846195
★☆☆☆☆
Found in Text Mining only