TNPO3 Chromosome 7
Transportin 3
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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 |
|---|---|---|---|
| RS587777431 | Health Risk | Pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F |