TNPO3

Chr 7

transportin 3

Also known as: IPO12, LGMD1F, LGMDD2, MTR10A, TRN-SR, TRN-SR2, TRNSR

NCBI Gene: 23534ENSG00000064419UniProt: Q9Y5L0

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal dominant 2

Clinical highlights

Gene-disease validity (ClinGen)
muscular dystrophy, limb-girdle, autosomal dominant · ADDefinitivesufficient evidence for diagnostic panels
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.52LOEUF
pLI 0.000
Z-score 4.56
OE 0.36 (0.25–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.44Z-score
OE missense 0.58 (0.52–0.63)
300 obs / 521.1 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.36 (0.25–0.52)
0≤0.351.4
Missense OE?0.58 (0.52–0.63)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 21 / 58.7Missense obs/exp: 300 / 521.1Syn Z: 0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TNPO3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients