CCDC192 (coiled-coil domain containing 192)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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
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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.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS — GWAS catalog 22959728
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 23527680
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — GWAS catalog 37069358
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA — GWAS catalog 32887889
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER — GWAS catalog 32887889
★★★★★
★★☆☆☆
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 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
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HELQ 3 shared diseasesHead and neck neoplasms, Oropharyngeal cancer, Upper aerodigestive tract neoplasm 3 shared evidence sourcesGWAS catalog (Head and neck neoplasms), GWAS catalog (Oropharyngeal cancer), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 3 shared diseases including Head and neck neoplasms, Oropharyngeal cancer — evidence mostly GWAS catalog. RERGL 3 shared diseasesHead and neck neoplasms, Oropharyngeal cancer, Upper aerodigestive tract neoplasm 3 shared evidence sourcesGWAS catalog (Head and neck neoplasms), GWAS catalog (Oropharyngeal cancer), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 3 shared diseases including Head and neck neoplasms, Oropharyngeal cancer — evidence mostly GWAS catalog. STK31 3 shared diseasesHead and neck neoplasms, Oropharyngeal cancer, Upper aerodigestive tract neoplasm 3 shared evidence sourcesGWAS catalog (Head and neck neoplasms), GWAS catalog (Oropharyngeal cancer), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 3 shared diseases including Head and neck neoplasms, Oropharyngeal cancer — evidence mostly GWAS catalog. MACO1 3 shared diseasesHead and neck neoplasms, Oropharyngeal cancer, Upper aerodigestive tract neoplasm 3 shared evidence sourcesGWAS catalog (Head and neck neoplasms), GWAS catalog (Oropharyngeal cancer), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 3 shared diseases including Head and neck neoplasms, Oropharyngeal cancer — evidence mostly GWAS catalog. KCNC4 2 shared diseasesOropharyngeal cancer, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Oropharyngeal cancer), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Oropharyngeal cancer, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog.
Alzheimer disease Linked via 2 of 5 related genesRERGL, STK31 Insomnia Linked via 2 of 5 related genesRERGL, STK31 Kidney disease Linked via 1 of 5 related genesRERGL Lung cancer Linked via 1 of 5 related genesRERGL Major depressive disorder Linked via 1 of 5 related genesRERGL