Gene Gene information from NCBI Gene database.
Entrez ID 79780
Gene name Coiled-coil domain containing 82
Gene symbol CCDC82
Synonyms (NCBI Gene)
HSPC048
Chromosome 11
Chromosome location 11q21
miRNA miRNA information provided by mirtarbase database.
96
miRTarBase ID miRNA Experiments Reference
MIRT020779 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT020779 hsa-miR-155-5p HITS-CLIP 22473208
MIRT020779 hsa-miR-155-5p HITS-CLIP 22473208
MIRT869880 hsa-miR-3163 CLIP-seq
MIRT869881 hsa-miR-3647-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619870 26282 ENSG00000149231
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N4S0
Protein name Coiled-coil domain-containing protein 82
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13846 DUF4196 98 152 Domain of unknown function (DUF4196) Domain
PF13846 DUF4196 147 236 Domain of unknown function (DUF4196) Domain
PF13926 DUF4211 297 449 Domain of unknown function (DUF4211) Family
Sequence
MIHVRRHETRRNSKSHVPEQKSRVDWRRTKRSSISQLLDSDEELDSEEFDSDEELDSDES
FENDEELDSNKGPDCNKTPGSERELNLSKIQSEGNDSKCLINSGNGSTYEEETNKIKHRN
IDLQDQEKHLSQEDNDLNKQTGQIIE
DDQEKHLSQEDNDLNKQTGQIIEDDLEEEDIKRG
KRKRLSSVMCDSDESDDSDILVRKVGVKRPRRVVEDEGSSVEMEQKTPEKTLAAQK
REKL
QKLKELSKQRSRQRRSSGRDFEDSEKESCPSSDEVDEEEEEDNYESDEDGDDYIIDDFVV
QDEEGDEENKNQQGEKLTTSQLKLVKQNSLYSFSDHYTHFERVVKALLINALDESFLGTL
YDGTRQKSYAKDMLTSLHYLDNRFVQPRLESLVSRSRWKEQYKERVENYSNVSIHLKNPE
NCSCQACGLHRYCKYSVHLSGELYNTRTM
QIDNFMSHDKQVFTVGRICASRTRIYHKLKH
FKFKLYQECCTIAMTEEVEDEQVKETVERIFRRSKENGWIKEKYGQLEEYLNFADYFQEE
KFEL
Sequence length 544
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs1866090527 RCV002287618
★★★★☆
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
Gastric cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations