TNPO3 Chromosome 7
Transportin 3
Upload your DNA to see your personal genotypes for variants in TNPO3.
What This Gene Does
The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene. [provided by RefSeq, Apr 2020]
Gene Info
Gene Group
"Importins|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000064419
Associated Conditions (6)
Autosomal dominant limb-girdle muscular dystrophy type 1F
Inborn genetic diseases
TNPO3-related disorder
Muscular dystrophy
limb-girdle
autosomal dominant
Key Variants
RS1326573780
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS1344567292
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS138263703
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS139019562
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS140709222
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS140754153
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS141881594
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS142268279
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS1486585360
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS148885407
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS1554439189
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
RS1563092740
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1326573780 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1344567292 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS138263703 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS139019562 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS140709222 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS140754153 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS141881594 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS142268279 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1486585360 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS148885407 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1554439189 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1563092740 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1585330590 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1585339231 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS199826657 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS200236830 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS201210726 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS368873021 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS372906002 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS374776250 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS560128689 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS566110160 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS567711266 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS61756249 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS61756250 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS745576236 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS748070271 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS751327499 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS751986019 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS754601386 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS755216120 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS757673014 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS759300872 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Inborn genetic diseases, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS769500215 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS770150722 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS772598470 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS775746067 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS780935123 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS781217193 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS781272417 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS886043402 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS886044161 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1270399063 | Health Risk | Likely pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1479952680 | Health Risk | Likely pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS1563083759 | Health Risk | Likely pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1F, Muscular dystrophy, limb-girdle |
| RS1799463371 | Health Risk | Likely pathogenic | — |
| RS2128974636 | Health Risk | Likely pathogenic | — |
| RS2150339586 | Health Risk | Likely pathogenic | — |
| RS1804050408 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |
| RS587777430 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |