Seroatlas · Human Serome Atlas

CCDC8

Coiled-coil domain-containing protein 8

Also known as: 3M3, CCDC8_HUMAN, DKFZp564K0322, PPP1R20

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9H0W5
Gene
CCDC8
Ensembl
ENSG00000169515
Chromosome
19
Canonical length
538 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

538 residues, UniProt reviewed canonical sequence.

>Q9H0W5|CCDC8
     1  MLQIGEDVDY LLIPREVRLA GGVWRVISKP ATKEAEFRER LTQFLEEEGR TLEDVARIME
    61  KSTPHPPQPP KKPKEPRVRR RVQQMVTPPP RLVVGTYDSS NASDSEFSDF ETSRDKSRQG
   121  PRRGKKVRKM PVSYLGSKFL GSDLESEDDE ELVEAFLRRQ EKQPSAPPAR RRVNLPVPMF
   181  EDNLGPQLSK ADRWREYVSQ VSWGKLKRRV KGWAPRAGPG VGEARLASTA VESAGVSSAP
   241  EGTSPGDRLG NAGDVCVPQA SPRRWRPKIN WASFRRRRKE QTAPTGQGAD IEADQGGEAA
   301  DSQREEAIAD QREGAAGNQR AGAPADQGAE AADNQREEAA DNQRAGAPAE EGAEAADNQR
   361  EEAADNQRAE APADQRSQGT DNHREEAADN QRAEAPADQG SEVTDNQREE AVHDQRERAP
   421  AVQGADNQRA QARAGQRAEA AHNQRAGAPG IQEAEVSAAQ GTTGTAPGAR ARKQVKTVRF
   481  QTPGRFSWFC KRRRAFWHTP RLPTLPKRVP RAGEARNLRV LRAEARAEAE QGEQEDQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC8 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.7
Highest tissue expression
35 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 35 nTPM
  • heart muscle: 23 nTPM
  • fallopian tube: 22 nTPM
  • blood vessel: 17 nTPM
  • adrenal gland: 15 nTPM
  • cervix: 14 nTPM

Single-cell type

  • peritubular myoid cells: 57 nCPM
  • leydig cells: 54 nCPM
  • breast myoepithelial cells: 48 nCPM
  • thymic myoid cells: 41 nCPM
  • decidual stromal cells: 40 nCPM
  • fallopian tube ciliated cells: 40 nCPM

Immune cell

  • neutrophil: 0.8 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • midbrain: 17 nTPM
  • choroid plexus: 16 nTPM
  • medulla oblongata: 12 nTPM
  • spinal cord: 11 nTPM
  • thalamus: 9.7 nTPM
  • white matter: 9.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC8.

Disease | AllUniProt

Conditions CCDC8 is implicated in, by any mechanism.

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 249 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • 3M syndrome 3

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)
0.83
gnomAD pLI
0.25
gnomAD missense Z
-0.16
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Coiled-coil domain-containing protein 8

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CCDC8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CCDC8 as an antibody target. Whether an autoantibody or antibody against CCDC8 could matter depends on whether native CCDC8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCDC8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CCDC8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CCDC8. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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