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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney 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
Adenocarcinoma Adenocarcinoma BEFREE 29901779
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 23666966
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28850155, 30439364
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28850155, 30439364
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 28850155 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40012020 Associate
★☆☆☆☆
Found in Text Mining only
Carcinosarcoma Carcinoma Pubtator 40012020 Inhibit
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 29901779
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29901779
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 29901779
★☆☆☆☆
Found in Text Mining only