IPO8 Chromosome 12
Importin 8
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What This Gene Does
The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Importins
Locus Type
gene with protein product
Location
12p11.21
Ensembl
ENSG00000133704
Associated Conditions (5)
Inborn genetic diseases
VISS syndrome
IPO8 related Connective tissue disorder
IPO8-related aortopathy
IPO8-related disorder
Key Variants
RS149978470
Conflicting classifications of pathogenicity
Inborn genetic diseases, VISS syndrome, Inborn genetic diseases
Health Risk
RS201904393
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1044428455
Likely pathogenic
VISS syndrome, VISS syndrome
Health Risk
RS1180377367
Likely pathogenic
IPO8 related Connective tissue disorder, VISS syndrome, IPO8 related Connective tissue disorder
Health Risk
RS1234764565
Likely pathogenic
VISS syndrome, IPO8 related Connective tissue disorder, VISS syndrome
Health Risk
RS1425433912
Likely pathogenic
IPO8 related Connective tissue disorder, VISS syndrome, IPO8 related Connective tissue disorder
Health Risk
RS2136136946
Likely pathogenic
IPO8 related Connective tissue disorder, VISS syndrome, IPO8 related Connective tissue disorder
Health Risk
RS2136144177
Likely pathogenic
VISS syndrome, VISS syndrome
Health Risk
RS2498146440
Likely pathogenic
Health Risk
RS1160566841
Pathogenic
IPO8-related aortopathy, IPO8-related aortopathy
Health Risk
RS1173889040
Pathogenic
VISS syndrome, VISS syndrome
Health Risk
RS1565492786
Pathogenic
VISS syndrome, IPO8-related aortopathy, VISS syndrome
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149978470 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, VISS syndrome, Inborn genetic diseases |
| RS201904393 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1044428455 | Health Risk | Likely pathogenic | VISS syndrome, VISS syndrome |
| RS1180377367 | Health Risk | Likely pathogenic | IPO8 related Connective tissue disorder, VISS syndrome, IPO8 related Connective tissue disorder |
| RS1234764565 | Health Risk | Likely pathogenic | VISS syndrome, IPO8 related Connective tissue disorder, VISS syndrome |
| RS1425433912 | Health Risk | Likely pathogenic | IPO8 related Connective tissue disorder, VISS syndrome, IPO8 related Connective tissue disorder |
| RS2136136946 | Health Risk | Likely pathogenic | IPO8 related Connective tissue disorder, VISS syndrome, IPO8 related Connective tissue disorder |
| RS2136144177 | Health Risk | Likely pathogenic | VISS syndrome, VISS syndrome |
| RS2498146440 | Health Risk | Likely pathogenic | — |
| RS1160566841 | Health Risk | Pathogenic | IPO8-related aortopathy, IPO8-related aortopathy |
| RS1173889040 | Health Risk | Pathogenic | VISS syndrome, VISS syndrome |
| RS1565492786 | Health Risk | Pathogenic | VISS syndrome, IPO8-related aortopathy, VISS syndrome |
| RS2053331144 | Health Risk | Pathogenic | VISS syndrome, IPO8 related Connective tissue disorder, VISS syndrome |
| RS2136125267 | Health Risk | Pathogenic | VISS syndrome, VISS syndrome |
| RS2136125277 | Health Risk | Pathogenic | IPO8 related Connective tissue disorder, IPO8 related Connective tissue disorder |
| RS2136127817 | Health Risk | Pathogenic | IPO8-related aortopathy, IPO8-related aortopathy |
| RS2136150891 | Health Risk | Pathogenic | IPO8 related Connective tissue disorder, IPO8 related Connective tissue disorder |
| RS2136152576 | Health Risk | Pathogenic | IPO8-related aortopathy, VISS syndrome, IPO8-related aortopathy |
| RS2136158926 | Health Risk | Pathogenic | IPO8-related aortopathy, IPO8-related aortopathy |
| RS2136163711 | Health Risk | Pathogenic | IPO8-related aortopathy, IPO8-related aortopathy |
| RS2136163716 | Health Risk | Pathogenic | IPO8-related aortopathy, VISS syndrome, IPO8-related aortopathy |
| RS2136165507 | Health Risk | Pathogenic | IPO8 related Connective tissue disorder, IPO8 related Connective tissue disorder |
| RS775937664 | Health Risk | Pathogenic | VISS syndrome, IPO8 related Connective tissue disorder, VISS syndrome |
| RS1243135564 | Health Risk | Pathogenic/Likely pathogenic | IPO8-related aortopathy, VISS syndrome, IPO8 related Connective tissue disorder |
| RS1438426784 | Health Risk | Pathogenic/Likely pathogenic | IPO8-related disorder, VISS syndrome, IPO8-related disorder |
| RS752299664 | Health Risk | Pathogenic/Likely pathogenic | IPO8 related Connective tissue disorder, VISS syndrome, IPO8 related Connective tissue disorder |