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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CCDC120
coiled-coil domain containing 120
Chromosome X · Xp11.23
NCBI Gene: 90060Ensembl: ENSG00000147144.13HGNC: HGNC:28910UniProt: Q96HB5
36PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingintracellular protein localizationmicrotubule anchoring at centrosomecentriole
✦AI Summary

CCDC120 is a centriolar coiled-coil domain protein with dual roles in centrosome function and neuronal development. As a centriole subdistal appendage (SDA) component, CCDC120 is anchored to SDAs by ODF2 and recruits both CEP170 and Ninein to centrosomes through distinct N-terminal coiled-coil domains 1. Together with CCDC68, it participates in hierarchical SDA assembly and is essential for microtubule anchoring in interphase cells 1. The CEP170-CCDC120 interaction is particularly critical for cortical development, where CEP170 depletion impairs neural progenitor proliferation and causes neuronal migration deficits through disrupted centrosome-microtubule interactions 2. In neurite growth, CCDC120 localizes the Arf6 guanine nucleotide exchange factor cytohesin-2 to vesicles that are transported anterogradely along extending neurites, enabling ARF6 activation and promoting neuritogenesis 3. CCDC120 loss-of-function inhibits this process, impairing both neurite extension and Arf6 activity. Clinically, a hemizygous missense variant in CCDC120 has been identified as a candidate gene associated with high bone mass 4, suggesting potential roles in skeletal development. These findings establish CCDC120 as a multifunctional scaffold protein linking centrosomal organization to neuronal and skeletal development.

Sources cited
1
CCDC120 is an SDA component required for hierarchical assembly, recruits CEP170 and Ninein to centrosomes, and is required for microtubule anchoring
PMID: 28422092
2
CEP170-CCDC120 interaction is critical for cortical development; CEP170 depletion impairs progenitor proliferation and causes neuronal migration deficits
PMID: 41888776
3
CCDC120 localizes cytohesin-2 to vesicles for anterograde transport along neurites and mediates neurite growth through ARF6 activation
PMID: 25326380
4
A hemizygous missense variant in CCDC120 is associated with high bone mass, identifying it as a candidate gene in skeletal disorders
PMID: 37704070
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CYTH2Protein interaction88%CCDC68Protein interaction88%KIF2AProtein interaction80%ODF2Protein interaction80%CEP170Protein interaction80%CNTRLProtein interaction80%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
CCDC120CYTH2CCDC68KIF2AODF2CEP170CNTRL
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96HB5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.18Tolerant
Observed/Expected LoF0.43 [0.29–0.65]
RankingsWhere CCDC120 stands among ~20K protein-coding genes
  • #10,745of 20,598
    Most Researched36
  • #4,659of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedCCDC120
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68.
PMID: 28422092
Nat Commun · 2017
1.00
2
CEP170 as a novel molecular link between centrosomal function and cerebral cortical development.
PMID: 41888776
J Biomed Sci · 2026
0.75
3
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.
PMID: 37704070
Bone · 2023
0.50
4
Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth.
PMID: 25326380
J Biol Chem · 2014
0.25