Gene Gene information from NCBI Gene database.
Entrez ID 729665
Gene name Coiled-coil domain containing 175
Gene symbol CCDC175
Synonyms (NCBI Gene)
C14orf38c14_5395
Chromosome 14
Chromosome location 14q23.1
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.
P0C221
Protein name Coiled-coil domain-containing protein 175
Family and domains
Sequence
MALSPWTPGLGAGEKLVQAAAVSTGPSLELCTLPSTLGSSVAVEALEQLFVVEQSLQSDY
FKCNEEAKIFLKDIAVAVKKLEEMRKATIDLLEIESMELNKLYYLLETLPNSIKRELEEC
VRDARRLNLFEINTIKMRITRTENEIELLKKKITDLTKYNEALGEKQEELARKHARFVLS
LNQTMEKKATTTVYINETYTKINLKREDIALQKKCIQEAEELMEKERAEYLIRKQELTAQ
INEFENTREVKRMETYQKKKELDKLQTKMSKIKETVTVSAAVLSDHNLEIARLHESIRYW
EQEVSELKKDLAILEAKLCFFTDNKEKLDDISNDEKNEFLNKIKQLVETLHAARMEYKDL
REKMKTLARQYKIVLSEEEKAFLQKQKIHDENQKQLTFISQKEYFLSQKRVDIKNMEEGL
ITLQELQQATKTVYQQQIKILSANLERESQRCVITQWKMACLRKKHARWTAKIKAEIQAI
TEKIQNAEVRRIELLNETSFRQQEISGFVAQIEKLTTELKEEEKAFVNKEKMLMKELSKY
EEIFVKETQINKEKEEELVEYLPQLQVAEQEYKEKRRKLEELSNIITAQRQEEDLLNNHI
FLFTRDFSRYISNMEDVKQELQQLRDQESKKNKDHFETLKNLENGFYINDQKADLLLLEN
KKLKEYILYLKNNIEKYREGQEALMHTSSDLSRQLIAQEAQYKDLWAEFQTTVKILVDNG
EETLQDINNLTDKLRERDEKMQHVSTWLRGSLEGLRLLVEQESPMDLLKKKKHIRTRVHF
PVVKCTEKNTLTK
Sequence length 793
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
INSOMNIA GWAS catalog
★★☆☆☆
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
Eye Diseases Eye disease Pubtator 36490268 Associate
★☆☆☆☆
Found in Text Mining only