CCDC178 (coiled-coil domain containing 178)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 374864
Gene name Coiled-coil domain containing 178
Gene symbol CCDC178
Synonyms (NCBI Gene)
C18orf34
Chromosome 18
Chromosome location 18q12.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
Download as csvDownload as pdf
GO ID Ontology Definition Evidence Reference
GO:0005813 Component Centrosome ISS
GO:0007286 Process Spermatid development ISS
GO:0036064 Component Ciliary basal body IDA 29257953
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
621139 29588 ENSG00000166960
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5BJE1
Protein name Coiled-coil domain-containing protein 178
Family and domains
Sequence 
MTENKTVSSSSTRDDQTNIGLTCQEVKALREKAWSRTNEGNAMSQSLVLYGASKENSEGF
HESKMTNTEGVNKGIYFSYPCRRHSCAVVNIPAPCVNKMISHIQDVESKIQEHLKRFETS
FEEWSRTSSTKDLKEDWSVTTPVKEVKPGEKRDEKCPELKQEMETLLSEAIRLIKSLETD
RADAEEALKQQRSRKNMINMKIDSWSVWKLQELPLAVQKEHEAYLSDVIELQWHLEDKAN
QLQHFEKQKTELEEANAKIQADIDYMNEHGPLLDSKQNQELQDLKNHYKKKMEVMDLHRK
VNEELEEALEACENARLKAQQIKEEIDKDIYQDEKTIEAYKREIYQLNSLFDHYSSSVIN
VNTNIEEKEEEVTEAIRETKSSKNELHSLSKMLEDLRRVYDQLTWKQKSHENQYLEAVND
FYAAKKTWDIELSDVAKDFSAISLACTKLTEDNKKLEIDINKITVKTNESIRKKSKYESE
IKYLTIMKLKNDKHLKNIYKEAYRIGTLFHLTKHKTDEMEDKIAEVRRKFKGREEFLKKL
TQGEVAAGMVLQKKLYSIYEVQALERKELIKNRAICAMSLAELQEPLLQLEDEAERIRSL
DKEHSVMLNNIIDQKDLIRRKVGKVKKKLRKKGKKTLDALIETESKRSAIFKDLEATKSK
TMIFYAKINELNEELKAKEEEKKSFDQTLEILKNKFITMRFKREHAQTVFDHYMQEKKDC
EERIFEEDQRFRVLLAVRQKTLQDTQKIIADSLEENLRLAQEYQQLQITFLKEKDNYFNI
YDKQLSLDTSIRDKKQLCQLQRRMHTLWQEHFKLVVLFSQMRLANFQTDSQESIQKILAV
QEESSNLMQHILGFFQTLTDGTCENDG
Sequence length 867
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Download as csvDownload as pdf
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 (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER — GWAS catalog 39294497
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog 25918132
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 26883092 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28319061
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28319061
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 26330360 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
BTN1A1 2 shared diseasesAnxiety disorder, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Anxiety disorder), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Anxiety disorder, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog. ITGB6 2 shared diseasesAnxiety disorder, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Anxiety disorder), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Anxiety disorder, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog. RBMS3 2 shared diseasesBrain aneurysm, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Brain aneurysm), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Brain aneurysm, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog. FHIT 2 shared diseasesBrain aneurysm, Upper aerodigestive tract neoplasm 2 shared evidence sourcesGWAS catalog (Brain aneurysm), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Brain aneurysm, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog. CHRNA5 2 shared diseasesAnxiety disorder, Upper aerodigestive tract neoplasm 1 shared evidence sourceGWAS catalog (Upper aerodigestive tract neoplasm) Related via 2 shared diseases including Anxiety disorder, Upper aerodigestive tract neoplasm — evidence mostly GWAS catalog.
Obstructive pulmonary disease Linked via 3 of 5 related genesBTN1A1, RBMS3, CHRNA5 Major depressive disorder Linked via 3 of 5 related genesBTN1A1, RBMS3, FHIT Metabolic syndrome Linked via 3 of 5 related genesITGB6, RBMS3, FHIT Scoliosis Linked via 3 of 5 related genesITGB6, RBMS3, FHIT Diabetes mellitus type 2 Linked via 3 of 5 related genesITGB6, RBMS3, FHIT