GENE REFERENCE / HGNC:19191

DOCK8

dedicator of cytokinesis 8

protein-coding gene9p24.3Gene information

What does this gene do?

The DOCK8 gene provides instructions for making a member of the DOCK family of proteins. The proteins in this family act as guanine nucleotide exchange factors (GEFs). GEFs turn on (activate) proteins called GTPases, which play an important role in chemical signaling within cells. Signaling stimulated by DOCK family proteins are typically involved in the arrangement of the structural framework inside cells (the cytoskeleton). By controlling the shape of the cytoskeleton, DOCK family proteins play a role in cell structure and movement (migration).

The DOCK8 protein is found most abundantly in cells of the immune system. This protein plays a critical role in the survival and function of several types of immune system cells, including T cells, NK cells, and B cells. T cells and NK cells recognize and attack foreign invaders, such as viruses, to prevent infection. B cells produce proteins called antibodies, which attach to foreign particles and germs and mark them for destruction.

Through its function as a GEF, the DOCK8 protein helps maintain the structure and integrity of T cells and NK cells. It also aids in the movement of these immune system cells to sites of infection, particularly the skin. The DOCK8 protein is also involved in chemical signaling pathways that stimulate B cells to mature and produce antibodies. The protein is also involved in the normal development and survival of other types of immune system cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2019-08.

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
combined immunodeficiency due to DOCK8 deficiencyMONDO:0009478 · Evaluated 2021-04-09	Autosomal recessive	DefinitiveSCID-CID 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: 3,719
Submissions for variants in or overlapping this gene: 5,605
Submissions explicitly reporting this gene: 5,102
Alleles reported pathogenic / likely pathogenic: 254
VariationIDs with uncertain significance: 1,504
VariationIDs with conflicting classifications: 109

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 DOCK8?

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 254 alleles in DOCK8 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 DOCK8.

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

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