DOCK2 - dedicator of cytokinesis 2 Gene

Homo sapiens

Also known as IMD40

Gene ID: 1794 | Gene type: protein coding

About DOCK2

Cytogenetic location: 5q35.1 Genomic coordinates (GRCh38): 5:169,637,275-170,083,382 (from NCBI)

This gene has 18 transcripts (splice variants), 235 orthologues, 10 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 13.3), bone marrow (RPKM 11.2) and 15 other tissues.

Summary

The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin Cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]

DOCK2 Products(1)

mRNA	Protein	Name
NM_004946.3	NP_004937.1	dedicator of cytokinesis protein 2

DOCK2 Protein Structure

SH3_2

DOCK-C2

DHR-2

0
300
600
900
1200
1500
1830 a.a.

Protein Preferred Names

Protein Names

dedicator of cytokinesis protein 2

dedicator of cyto-kinesis 2

Related Diseases

Diseases

Alias

Immunodeficiency 40

Dock2 Deficiency	IMD40
Immunodeficiency, Type 40

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Lymphopenia

Lymphocytopenia

Skeletal Tuberculosis

Tuberculosis, Osteoarticular

Osteoarticular Tuberculosis

Coronin-1a Deficiency

Brachydactyly, Type C

Brachydactyly Type C	BDC
Brachydactyly Haws Type	Brachydactyly, Haws Type
Brachydactyly C

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153128	DOCK2-IN-1	Inhibitor	96.20%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DOCK2	MGD	MGI:2149010
Bos taurus	DOCK2	VGNC	VGNC:28157
Felis catus	DOCK2	VGNC	VGNC:61571
Canis familiaris	DOCK2	VGNC	VGNC:40046
Rattus norvegicus	DOCK2	RGD	RGD:1564189
Macaca mulatta	DOCK2	VGNC	VGNC:71966