DNMBP Chromosome 10
Dynamin binding protein
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What This Gene Does
This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"Dbl family Rho GEFs|BAR and Dbl domain containing"
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000107554
Associated Conditions (1)
Cataract 48
Key Variants
RS369221824
Conflicting classifications of pathogenicity
Health Risk
RS2493261927
Likely pathogenic
Cataract 48, Cataract 48
Health Risk
RS1564722302
Pathogenic
Cataract 48, Cataract 48
Health Risk
RS1564723150
Pathogenic
Cataract 48, Cataract 48
Health Risk
RS1564745688
Pathogenic
Cataract 48, Cataract 48
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369221824 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2493261927 | Health Risk | Likely pathogenic | Cataract 48, Cataract 48 |
| RS1564722302 | Health Risk | Pathogenic | Cataract 48, Cataract 48 |
| RS1564723150 | Health Risk | Pathogenic | Cataract 48, Cataract 48 |
| RS1564745688 | Health Risk | Pathogenic | Cataract 48, Cataract 48 |