DENND5A Chromosome 11
DENN domain containing 5A
Upload your DNA to see your personal genotypes for variants in DENND5A.
What This Gene Does
This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000184014
Associated Conditions (4)
Inborn genetic diseases
Developmental and epileptic encephalopathy
49
DENND5A-related disorder
Key Variants
RS117315126
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140062756
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148317700
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy
Health Risk
RS2493771954
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy
Health Risk
RS760371606
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766374994
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779865474
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 49, Inborn genetic diseases
Health Risk
RS1057519564
Likely pathogenic
Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy
Health Risk
RS1378771732
Likely pathogenic
DENND5A-related disorder, DENND5A-related disorder
Health Risk
RS1381160481
Likely pathogenic
Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy
Health Risk
RS1590275695
Likely pathogenic
Health Risk
RS1849592470
Likely pathogenic
Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117315126 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140062756 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148317700 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS2493771954 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS760371606 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766374994 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779865474 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 49, Inborn genetic diseases |
| RS1057519564 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS1378771732 | Health Risk | Likely pathogenic | DENND5A-related disorder, DENND5A-related disorder |
| RS1381160481 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS1590275695 | Health Risk | Likely pathogenic | — |
| RS1849592470 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS2493741184 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS2493743511 | Health Risk | Likely pathogenic | — |
| RS2493836772 | Health Risk | Likely pathogenic | — |
| RS764301963 | Health Risk | Likely pathogenic | — |
| RS1057519307 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS1057519308 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS1057519310 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 49, Developmental and epileptic encephalopathy |
| RS1292115878 | Health Risk | Pathogenic | — |
| RS1317373402 | Health Risk | Pathogenic | — |
| RS1400295257 | Health Risk | Pathogenic | — |
| RS1848176232 | Health Risk | Pathogenic | — |
| RS2136111918 | Health Risk | Pathogenic | — |
| RS2136176644 | Health Risk | Pathogenic | — |
| RS2493874595 | Health Risk | Pathogenic | — |
| RS2493906863 | Health Risk | Pathogenic | — |
| RS2528281424 | Health Risk | Pathogenic | — |
| RS747796744 | Health Risk | Pathogenic | — |
| RS757710217 | Health Risk | Pathogenic | — |
| RS915371303 | Health Risk | Pathogenic | — |
| RS1057519563 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 49, DENND5A-related disorder |