CCDC78
Coiled-coil domain-containing protein 78
Also known as: C16orf25, CCD78_HUMAN, FLJ34512
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A2IDD5
- Gene
- CCDC78
- Ensembl
- ENSG00000162004
- Chromosome
- 16
- Canonical length
- 438 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
Involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Located in several cellular components, including centriole; deuterosome; and sarcolemma. Implicated in centronuclear myopathy 4. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
438 residues, UniProt reviewed canonical sequence.
>A2IDD5|CCDC78
1 MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ
61 ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR
121 HPRAAAQELR HKAQVPGHSD DHRFQVQPKN TMNPENEQHR LGSGLQGEVK WALEHQEARQ
181 QALVTRVATL GRQLQGAREE ARAAGQRLAT QAVVLCSCQG QLRQAEAENA RLQLQLKKLK
241 DEYVLRLQHC AWQAVEHADG AGQAPATTAL RTFLEATLED IRAAHRSREQ QLARAARSYH
301 KRLVDLSRRH EELLVAYRAP GNPQAIFDIA SLDLEPLPVP LVTDFSHRED QHGGPGALLS
361 SPKKRPGGAS QGGTSEPQGL DAASWAQIHQ KLRDFSRSTQ SWNGSGHSCW SGPRWLKSNF
421 LSYRSTWTST WAGTSTKSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CCDC78 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 28 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 28 nTPM
- basal ganglia: 11 nTPM
- cerebellum: 8.6 nTPM
- lung: 7.6 nTPM
- choroid plexus: 6.5 nTPM
- hypothalamus: 5.9 nTPM
Single-cell type
- respiratory ciliated cells: 426 nCPM
- epididymal efferent duct ciliated cells: 338 nCPM
- fallopian tube ciliated cells: 319 nCPM
- endometrial ciliated cells: 211 nCPM
- ependymal cells: 132 nCPM
- brain inhibitory neurons: 9.8 nCPM
Immune cell
- memory CD8 T-cell: 0.6 nTPM
- MAIT T-cell: 0.3 nTPM
- eosinophil: 0.2 nTPM
- NK-cell: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- midbrain: 14 nTPM
- medulla oblongata: 14 nTPM
- spinal cord: 7.9 nTPM
- cerebellum: 6.9 nTPM
- pons: 6.8 nTPM
- cerebral cortex: 5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CCDC78.
Disease | AllUniProt
Conditions CCDC78 is implicated in, by any mechanism.
- Myopathy, centronuclear, 4 (CNM4) MIM:614807
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.79
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.86
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell projection organization
- de novo centriole assembly involved in multi-ciliated epithelial cell differentiation
- skeletal muscle contraction
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Domain of unknown function DUF4472
- Coiled-coil domain-containing protein 78
- Domain of unknown function (DUF4472)
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CCDC78 as an antibody target. Whether an autoantibody or antibody against CCDC78 could matter depends on whether native CCDC78 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CCDC78 is annotated at the cell surface, where native CCDC78 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CCDC78 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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