CCDC188 (coiled-coil domain containing 188)

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Gene Gene information from NCBI Gene database.
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Entrez ID 388849
Gene name Coiled-coil domain containing 188
Gene symbol CCDC188
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:0016020 Component Membrane 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.
H7C350
Protein name Coiled-coil domain-containing protein 188
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14992 TMCO5 223 → 401 TMCO5 family Family
Sequence 
MEGLKTLGPCGHPHPQCPPTPASSSHGGGLDQPCQGFVGWPCLGPISSAHSVQSQRPFPV
PGAGGSGPTVEGEAPGLFLSSQEQRARDTEGPRQGDLEAGLGWGWPLHPGSNQGAPRQGG
SIGSGTRPCPCPPLSREGGALASPRVALSQLQCGLLGSAEQSFLQLEQENHSLKRQNQEL
REQLGALLGPGQQFLPLCPEHSSCTALAWPPDPAGTQPLGNRAPLQLLRRELCQGQEAFV
QQSQNELQQIRLCFERKKMVITEVWDNVAEMHMALNNQATGLLNLKKDIRGVLDQMEDIQ
LEILRERAQCRTRARKEKQMASMSKGRPKLGSSKGLAGQLWLLTLRLLLGALLVWTAAYV
YVVNPTPFEGLVPPLLSRATVWKLRALLDPFLRLKVDGFLPF
Sequence length 402
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
DISORDER OF PHARYNX — GWAS catalog 36653354
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER — GWAS catalog 35115687
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE — GWAS catalog 36653354
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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IL17REL 2 shared diseasesPharyngeal disorder, Respiratory system disease 2 shared evidence sourcesGWAS catalog (Pharyngeal disorder), GWAS catalog (Respiratory system disease) Related via 2 shared diseases including Pharyngeal disorder, Respiratory system disease — evidence mostly GWAS catalog. ADAM23 2 shared diseasesPharyngeal disorder, Respiratory system disease 2 shared evidence sourcesGWAS catalog (Pharyngeal disorder), GWAS catalog (Respiratory system disease) Related via 2 shared diseases including Pharyngeal disorder, Respiratory system disease — evidence mostly GWAS catalog. PIM3 2 shared diseasesPharyngeal disorder, Respiratory system disease 2 shared evidence sourcesGWAS catalog (Pharyngeal disorder), GWAS catalog (Respiratory system disease) Related via 2 shared diseases including Pharyngeal disorder, Respiratory system disease — evidence mostly GWAS catalog. SLC12A8 2 shared diseasesPharyngeal disorder, Respiratory system disease 2 shared evidence sourcesGWAS catalog (Pharyngeal disorder), GWAS catalog (Respiratory system disease) Related via 2 shared diseases including Pharyngeal disorder, Respiratory system disease — evidence mostly GWAS catalog. ADSS1 2 shared diseasesPharyngeal disorder, Respiratory system disease 2 shared evidence sourcesGWAS catalog (Pharyngeal disorder), GWAS catalog (Respiratory system disease) Related via 2 shared diseases including Pharyngeal disorder, Respiratory system disease — evidence mostly GWAS catalog.
Diabetes mellitus type 2 Linked via 3 of 5 related genesIL17REL, PIM3, SLC12A8 Upper respiratory tract disorder Linked via 2 of 5 related genesADAM23, SLC12A8 Ulcerative colitis Linked via 1 of 5 related genesIL17REL Crohn disease Linked via 1 of 5 related genesIL17REL Inflammatory bowel disease Linked via 1 of 5 related genesIL17REL