CCDC192 (coiled-coil domain containing 192)

Gene Gene information from NCBI Gene database.
Gene Other IDs Protein Associated diseases
Entrez ID 728586
Gene name Coiled-coil domain containing 192
Gene symbol CCDC192
Synonyms (NCBI Gene)
LINC01183
Chromosome 5
Chromosome location 5q23.2-q23.3
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DO97
Protein name Coiled-coil domain-containing protein 192
Family and domains
Sequence 
MMPVDVCPRDRGSQWVWLEMGQCYSKKSVVPESDTSERSSMTSGSSESDIPQENKVSKAS
LDTGQMAFTLAQLESLEICLKEAEEKAKALSEQLSVSEGTKSKLLEQVSRLEEKLEAVDH
KEASGGPYEKMVLVKDQCIQKLQAEVKASQEQLIAQKLKHEKKVKKLQTDLATANAITVL
ELNEKIKTLYEGKPAPREDSLLEGFCGGLPPVEEGDRKISLIMELSTQVSLQTERITQLK
EVLEEKERKIQQLEAERSPHPPQEVKDPPGCLPEAPVFSTHDIPPVVSDENL
Sequence length 292
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene 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 (7)
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
AMYOTROPHIC LATERAL SCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32784402 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 19023125, 28991256, 30285260
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations