Gene Gene information from NCBI Gene database.
Entrez ID 256369
Gene name Coiled-coil domain containing 197
Gene symbol CCDC197
Synonyms (NCBI Gene)
C14orf48LINC00521c14_5713
Chromosome 14
Chromosome location 14q32.12
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
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.
Q8NCU1
Protein name Uncharacterized protein CCDC197 (Coiled-coil domain-containing protein 197)
Family and domains
Sequence
MAAMDTGQRADPSNPGDKEGDLQGLWQELYQLQAKQKKLKREVEKHKLFEDYLIKVLEKI
PEGCTGWEEPEEVLVEATVKHYGKLFTASQDTQKRLEAFCQMIQAVHRSLESLEEDHRAL
IASRSGCVSCRRSATASRSSGGS
Sequence length 143
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
CORONARY ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations