Entity Details

Primary name CCDC78
Entity type gene
Source Source Link

Details

PrimaryID124093
RefseqGeneNG_032932
SymbolCCDC78
Namecoiled-coil domain containing 78
Chromosome16
Location16p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCCD78_HUMAN

GO terms

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GOName
GO:0003009 skeletal muscle contraction
GO:0005814 centriole
GO:0016529 sarcoplasmic reticulum
GO:0030030 cell projection organization
GO:0042383 sarcolemma
GO:0048471 perinuclear region of cytoplasm
GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation
GO:0098536 deuterosome

Diseases

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Disease IDSourceNameDescription
614807 OMIMMyopathy, centronuclear, 4 (CNM4)A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
CCDC78INCA1BioGRID, IntAct32296183 details
CCDC78CASS4IntAct31413325 details
CCDC78HEY1BioGRID27129302 details