DEF6 Chromosome 6
DEF6 guanine nucleotide exchange factor
Upload your DNA to see your personal genotypes for variants in DEF6.
What This Gene Does
DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000023892
Associated Conditions (2)
DEF6-related disorder
Immunodeficiency 87 and autoimmunity
Key Variants
RS202091466
Conflicting classifications of pathogenicity
Health Risk
RS377311393
Conflicting classifications of pathogenicity
DEF6-related disorder, DEF6-related disorder
Health Risk
RS2150387447
Pathogenic
Immunodeficiency 87 and autoimmunity, Immunodeficiency 87 and autoimmunity
Health Risk
RS2150388801
Pathogenic
Immunodeficiency 87 and autoimmunity, Immunodeficiency 87 and autoimmunity
Health Risk
RS2534189976
Pathogenic
Health Risk
RS766609884
Pathogenic
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202091466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377311393 | Health Risk | Conflicting classifications of pathogenicity | DEF6-related disorder, DEF6-related disorder |
| RS2150387447 | Health Risk | Pathogenic | Immunodeficiency 87 and autoimmunity, Immunodeficiency 87 and autoimmunity |
| RS2150388801 | Health Risk | Pathogenic | Immunodeficiency 87 and autoimmunity, Immunodeficiency 87 and autoimmunity |
| RS2534189976 | Health Risk | Pathogenic | — |
| RS766609884 | Health Risk | Pathogenic | — |