Gene Gene information from NCBI Gene database.
Entrez ID 151887
Gene name Coiled-coil domain containing 80
Gene symbol CCDC80
Synonyms (NCBI Gene)
CL2DRO1LINC01279SSG1URBokuribin
Chromosome 3
Chromosome location 3q13.2
miRNA miRNA information provided by mirtarbase database.
332
miRTarBase ID miRNA Experiments Reference
MIRT697005 hsa-miR-508-5p HITS-CLIP 23313552
MIRT697004 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT697003 hsa-miR-6511a-5p HITS-CLIP 23313552
MIRT697002 hsa-miR-4257 HITS-CLIP 23313552
MIRT697001 hsa-miR-1273g-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0001968 Function Fibronectin binding IEA
GO:0005539 Function Glycosaminoglycan binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005604 Component Basement membrane IBA
GO:0005604 Component Basement membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608298 30649 ENSG00000091986
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q76M96
Protein name Coiled-coil domain-containing protein 80 (Down-regulated by oncogenes protein 1) (Up-regulated in BRS-3 deficient mouse homolog)
Protein function Promotes cell adhesion and matrix assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13778 DUF4174 141 270 Domain of unknown function (DUF4174) Family
PF13778 DUF4174 615 749 Domain of unknown function (DUF4174) Family
PF13778 DUF4174 771 902 Domain of unknown function (DUF4174) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in dermal papilla and dermal fibroblasts (at protein level). Expressed in heart, thymus, placenta, pancreas, colon, epithelium, spleen and osteoblasts. {ECO:0000269|PubMed:15325258, ECO:0000269|PubMed:15563452, ECO:0000269|Pu
Sequence
MTWRMGPRFTMLLAMWLVCGSEPHPHATIRGSHGGRKVPLVSPDSSRPARFLRHTGRSRG
IERSTLEEPNLQPLQRRRSVPVLRLARPTEPPARSDINGAAVRPEQRPAARGSPREMIRD
EGSSARSRMLRFPSGSSSPNILASFAGKNRVWVISAPHASEGYYRLMMSLLKDDVYCELA
ERHIQQIVLFHQAGEEGGKVRRITSEGQILEQPLDPSLIPKLMSFLKLEKGKFGMVLLKK
TLQVEERYPYPVRLEAMYEVIDQGPIRRIE
KIRQKGFVQKCKASGVEGQVVAEGNDGGGG
AGRPSLGSEKKKEDPRRAQVPPTRESRVKVLRKLAATAPALPQPPSTPRATTLPPAPATT
VTRSTSRAVTVAARPMTTTAFPTTQRPWTPSPSHRPPTTTEVITARRPSVSENLYPPSRK
DQHRERPQTTRRPSKATSLESFTNAPPTTISEPSTRAAGPGRFRDNRMDRREHGHRDPNV
VPGPPKPAKEKPPKKKAQDKILSNEYEEKYDLSRPTASQLEDELQVGNVPLKKAKESKKH
EKLEKPEKEKKKKMKNENADKLLKSEKQMKKSEKKSKQEKEKSKKKKGGKTEQDGYQKPT
NKHFTQSPKKSVADLLGSFEGKRRLLLITAPKAENNMYVQQRDEYLESFCKMATRKISVI
TIFGPVNNSTMKIDHFQLDNEKPMRVVDDEDLVDQRLISELRKEYGMTYNDFFMVLTDVD
LRVKQYYEVPITMKSVFDLIDTFQSRIKD
MEKQKKEGIVCKEDKKQSLENFLSRFRWRRR
LLVISAPNDEDWAYSQQLSALSGQACNFGLRHITILKLLGVGEEVGGVLELFPINGSSVV
EREDVPAHLVKDIRNYFQVSPEYFSMLLVGKDGNVKSWYPSPMWSMVIVYDLIDSMQLRR
QE
MAIQQSLGMRCPEDEYAGYGYHSYHQGYQDGYQDDYRHHESYHHGYPY
Sequence length 950
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs56683778 RCV005910652
Clear cell carcinoma of kidney Benign rs56683778 RCV005910653
Colon adenocarcinoma Benign rs56683778 RCV005910648
Hepatocellular carcinoma Benign rs56683778 RCV005910649
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 28850155
Breast Neoplasms Associate 40012020
Carcinosarcoma Inhibit 40012020
Fatty Liver Associate 28850155, 37224770
Intracranial Aneurysm Associate 29531279
Metabolic Diseases Associate 28850155
Neoplasms Inhibit 20964819
Neoplasms Associate 40012020
Non alcoholic Fatty Liver Disease Associate 37224770
Obesity Associate 28850155