DOCK8

On this page:

What is the official name of the DOCK8 gene?

The official name of this gene is “dedicator of cytokinesis 8.”

DOCK8 is the gene's official symbol. The DOCK8 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the DOCK8 gene?

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. DOCK8 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 migration of these immune system cells to sites of infection, particularly the skin. DOCK8 is also involved in chemical signaling pathways that stimulate B cells to mature and produce antibodies. DOCK8 is also involved in the normal development and survival of other types of immune system cells.

How are changes in the DOCK8 gene related to health conditions?

autosomal recessive hyper-IgE syndrome - caused by mutations in the DOCK8 gene: At least 110 mutations in the DOCK8 gene have been found to cause autosomal recessive hyper-IgE syndrome (AR-HIES), an immune system disorder that causes recurrent severe infections of the skin and respiratory tract. Most of the mutations involved in this disorder delete regions of DNA from the DOCK8 gene. These deletions and other DOCK8 gene mutations lead to an abnormally short protein, if any protein is produced. As a result, affected individuals have little or no functional DOCK8 protein.
A shortage of DOCK8 protein impairs normal immune cell development and function. It is thought that T cells lacking DOCK8 cannot maintain their shape as they move through dense spaces, such as those found within the skin. The abnormal cells die, resulting in reduced numbers of these cells. A shortage of T cells impairs the immune response to foreign invaders, accounting for the severe skin infections common in AR-HIES. A lack of DOCK8 also impairs B cell maturation and the production of antibodies. Impairment of this type of immune response leads to recurrent respiratory tract infections in people with this disorder.
other disorders - caused by mutations in the DOCK8 gene: Mutations affecting the DOCK8 gene have been found in two individuals with a rare form of intellectual disability described in the medical literature as autosomal dominant mental retardation 2. These individuals have developmental delays, including delayed or absent speech. The mutations involved in this condition result in production of an abnormally short DOCK8 protein. Unlike in AR-HIES (described above), the mutations associated with autosomal dominant mental retardation 2 affect only one copy of the DOCK8 gene. Researchers are unsure how these genetic changes lead to intellectual disability.

Where is the DOCK8 gene located?

Cytogenetic Location: 9p24.3

Molecular Location on chromosome 9: base pairs 214,864 to 465,258

The DOCK8 gene is located on the short (p) arm of chromosome 9 at position 24.3.

More precisely, the DOCK8 gene is located from base pair 214,864 to base pair 465,258 on chromosome 9.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DOCK8?

You and your healthcare professional may find the following resources about DOCK8 helpful.

Educational resources - Information pages (3 links)
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

What other names do people use for the DOCK8 gene or gene products?

1200017A24Rik
dedicator of cytokinesis protein 8 isoform 1
dedicator of cytokinesis protein 8 isoform 2
dedicator of cytokinesis protein 8 isoform 3
epididymis luminal protein 205
FLJ00026
FLJ00152
FLJ00346
HEL-205
MRD2
ZIR8

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DOCK8?

autosomal ; autosomal dominant ; autosomal recessive ; cell ; cytokinesis ; cytoskeleton ; disability ;DNA ; epididymis ; gene ; guanine ; immune response ; immune system ; infection ;mental retardation ; NK cells ; nucleotide ; protein ; recessive ; respiratory ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (10 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook