Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
151887
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 80
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCDC80
Synonyms (NCBI Gene) Gene synonyms aliases
CL2, DRO1, LINC01279, SSG1, URB, okuribin
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608298 30649 ENSG00000091986
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dermatitis Atopic dermatitis N/A N/A GWAS
Intracranial Aneurysm Intracranial aneurysm N/A N/A GWAS
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Associations from Text Mining Disease 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