EXOC3L2 Chromosome 19
Exocyst complex component 3 like 2
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What This Gene Does
The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000283632
Associated Conditions (4)
EXOC3L2-related brain malformations and/or renal disease
Meckel-like syndrome
Meckel-Gruber syndrome
Brain malformation renal syndrome
Key Variants
RS768632277
Conflicting classifications of pathogenicity
Health Risk
RS2513866462
Likely pathogenic
EXOC3L2-related brain malformations and/or renal disease, EXOC3L2-related brain malformations and/or renal disease
Health Risk
RS2122975686
Pathogenic
Meckel-like syndrome, Meckel-like syndrome
Health Risk
RS886039793
Pathogenic/Likely pathogenic
Meckel-Gruber syndrome, Brain malformation renal syndrome, Meckel-Gruber syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS768632277 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2513866462 | Health Risk | Likely pathogenic | EXOC3L2-related brain malformations and/or renal disease, EXOC3L2-related brain malformations and/or renal disease |
| RS2122975686 | Health Risk | Pathogenic | Meckel-like syndrome, Meckel-like syndrome |
| RS886039793 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Brain malformation renal syndrome, Meckel-Gruber syndrome |