TNPO3 transportin 3
Gene ID: 23534, updated on 10-Oct-2024Gene type: protein coding
Also known as: IPO12; TRNSR; LGMD1F; LGMDD2; MTR10A; TRN-SR; TRN-SR2
- See all available tests in GTR for this gene
- Go to complete Gene record for TNPO3
- Go to Variation Viewer for TNPO3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. GeneReviews: Not available | |
| Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. GeneReviews: Not available | |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | See labs |
| Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. GeneReviews: Not available | |
| Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. GeneReviews: Not available | |
| Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. GeneReviews: Not available | |
| Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. GeneReviews: Not available | |
| Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. GeneReviews: Not available | |
| GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. GeneReviews: Not available | |
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available | |
| Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. GeneReviews: Not available |
Genomic context
- Location:
- 7q32.1
- Sequence:
- Chromosome: 7; NC_000007.14 (128954185..129056193, complement)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TNPO3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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