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GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC61
coiled-coil domain containing 61
Chromosome 19 · 19q13.32
NCBI Gene: 729440Ensembl: ENSG00000104983.9HGNC: HGNC:33629UniProt: Q9Y6R9
24PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmicrotubule bindingidentical protein bindingmitotic spindle assemblyneurotic disordermalignant renal pelvis neoplasmhepatocellular carcinomalung cancer
✦AI Summary

CCDC61 is a microtubule-binding centrosomal protein essential for proper centrosome organization and function. Structurally, CCDC61 is a paralog of SAS6 that forms linear filaments through homodimerization interfaces and directly binds microtubules 1. During interphase, CCDC61 localizes to mother centriole subdistal appendages where it functions in anchoring microtubules and maintaining centrosome positioning 2. CCDC61 physically interacts with CEP170, an interaction independent of the CEP250/CROCC linker, and is required for centriole cohesion through its role at subdistal appendages 2. During mitosis, CCDC61 regulates spindle microtubule organization into symmetrical structures and is essential for proper chromosome 19 3. The protein also promotes ciliary functions by facilitating basal body-associated structure assembly 1, though it plays a non-essential role in ciliogenesis 2. Clinically, CCDC61 mutations have been identified in relapsing polychondritis patients, suggesting potential disease relevance 4, though functional validation of this association remains incomplete.

Sources cited
1
CCDC61 localizes to mother centriole subdistal appendages, interacts with CEP170, is required for centrosome cohesion and positioning, and is an microtubule-binding protein
PMID: 31789463
2
CCDC61 is required for spindle assembly, chromosome alignment, and controls centrosomal localization of CEP170 during mitosis
PMID: 30354798
3
CCDC61 is a SAS6 paralog that forms linear filaments, binds microtubules, and promotes ciliary functions
PMID: 32375023
4
CCDC61 mutations are identified in relapsing polychondritis patients as candidate disease-associated variants
PMID: 32107856
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ18
neurotic disorderOpen Targets
0.20Weak
malignant renal pelvis neoplasmOpen Targets
0.17Weak
hepatocellular carcinomaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KIF2AProtein interaction73%ODF2Protein interaction73%CEP170Protein interaction73%CNTRLProtein interaction73%NINProtein interaction73%CCDC68Protein interaction73%
Tissue Expression6 tissues
Ovary
100%
Liver
99%
Lung
71%
Bone Marrow
54%
Heart
38%
Brain
21%
Gene Interaction Network
Click a node to explore
CCDC61KIF2AODF2CEP170CNTRLNINCCDC68
PROTEIN STRUCTURE
Preparing viewer…
PDB6HXT · 2.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.84–1.32]
RankingsWhere CCDC61 stands among ~20K protein-coding genes
  • #13,152of 20,598
    Most Researched24
  • #13,845of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedCCDC61
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Ccdc61 controls centrosomal localization of Cep170 and is required for spindle assembly and symmetry.
PMID: 30354798
Mol Biol Cell · 2018
1.00
2
CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions.
PMID: 32375023
Structure · 2020
0.75
3
hVFL3/CCDC61 is a component of mother centriole subdistal appendages required for centrosome cohesion and positioning.
PMID: 31789463
Biol Cell · 2020
0.50
4
Genetic basis of relapsing polychondritis revealed by family-based whole-exome sequencing.
PMID: 32107856
Int J Rheum Dis · 2020
0.25