GENE REFERENCE / HGNC:26090

CCDC40

coiled-coil domain 40 molecular ruler complex subunit

protein-coding gene17q25.3Gene information

What does this gene do?

The CCDC40 gene provides instructions for making a protein that is involved in the assembly of a larger group of proteins (a complex) called dynein. Dynein functions within cell structures called cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Flagella are similar to cilia, but flagella are found only in sperm cells. Dynein makes up the structures (arms) that produce the force needed for cilia and flagella to move.

Dynein forms structures known as inner dynein arms (IDAs) and outer dynein arms (ODAs) within the core of cilia and flagella (the axoneme). Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. The CCDC40 protein is necessary for the proper assembly of the IDAs, which play a central role in the coordinated movement of cilia and flagella.

Researchers suspect that the CCDC40 protein is also involved in the proper assembly of the nexin-dynein regulatory complex, which helps regulate and coordinate the activity of the inner and outer dynein arms. By helping with the assembly of both the IDAs and the nexin-dynein regulatory complex, the CCDC40 protein plays a central role in the coordinated movement of cilia and flagella.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-30. Source review: 2025-09.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
primary ciliary dyskinesia 15MONDO:0013435 · Evaluated 2021-12-10	Autosomal recessive	DefinitiveMotile Ciliopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,313
Submissions for variants in or overlapping this gene: 2,454
Submissions explicitly reporting this gene: 2,342
Alleles reported pathogenic / likely pathogenic: 126
VariationIDs with uncertain significance: 476
VariationIDs with conflicting classifications: 88

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CCDC40?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 126 alleles in CCDC40 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CCDC40.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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