Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23534
Gene name Gene Name - the full gene name approved by the HGNC.
Transportin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNPO3
Synonyms (NCBI Gene) Gene synonyms aliases
IPO12, LGMD1F, LGMDD2, MTR10A, TRN-SR, TRN-SR2, TRNSR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LGMDD2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 wi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61756249 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, missense variant, coding sequence variant
rs61756250 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, missense variant, coding sequence variant
rs140709222 C>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs140754153 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, non coding transcript variant, coding sequence variant
rs141881594 T>A,C Conflicting-interpretations-of-pathogenicity Synonymous variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019682 hsa-miR-375 Microarray 20215506
MIRT025217 hsa-miR-34a-5p Proteomics 21566225
MIRT025217 hsa-miR-34a-5p Proteomics 21566225
MIRT028439 hsa-miR-30a-5p Proteomics 18668040
MIRT030364 hsa-miR-24-3p Microarray 19748357
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12628928, 15829567, 22872640, 24449914, 30916345, 31465518, 32296183
GO:0005635 Component Nuclear envelope IDA 31192305
GO:0005642 Component Annulate lamellae IDA 31192305
GO:0005737 Component Cytoplasm IBA 21873635
GO:0006606 Process Protein import into nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610032 17103 ENSG00000064419
Protein
UniProt ID Q9Y5L0
Protein name Transportin-3 (Importin-12) (Imp12) (Transportin-SR) (TRN-SR)
Protein function Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as
PDB 4C0O , 4C0P , 4C0Q , 4OL0 , 6GX9 , 8CMK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08389 Xpo1 101 249 Exportin 1-like protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle. {ECO:0000269|PubMed:23667635}.
Sequence
MEGAKPTLQLVYQAVQALYHDPDPSGKERASFWLGELQRSVHAWEISDQLLQIRQDVESC
YFAAQTMKMKIQTSFYELPTDSHASLRDSLLTHIQNLKDLSPVIVTQLALAIADLALQMP
SWKGCVQTLVEKYSNDVTSLPFLLEILTVLPEEVHSRSLRIGANRRTEIIEDLAFYSSTV
VSLLMTCVEKAGTDEKMLMKVFRCLGSWFNLGVLDSNFMANNKLLALLFEVLQQDKTSSN
LHEAASDCV
CSALYAIENVETNLPLAMQLFQGVLTLETAYHMAVAREDLDKVLNYCRIFT
ELCETFLEKIVCTPGQGLGDLRTLELLLICAGHPQYEVVEISFNFWYRLGEHLYKTNDEV
IHGIFKAYIQRLLHALARHCQLEPDHEGVPEETDDFGEFRMRVSDLVKDLIFLIGSMECF
AQLYSTLKEGNPPWEVTEAVLFIMAAIAKSVDPENNPTLVEVLEGVVRLPETVHTAVRYT
SIELVGEMSEVVDRNPQFLDPVLGYLMKGLCEKPLASAAAKAIHNICSVCRDHMAQHFNG
LLEIARSLDSFLLSPEAAVGLLKGTALVLARLPLDKITECLSELCSVQVMALKKLLSQEP
SNGISSDPTVFLDRLAVIFRHTNPIVENGQTHPCQKVIQEIWPVLSETLNKHRADNRIVE
RCCRCLRFAVRCVGKGSAALLQPLVTQMVNVYHVHQHSCFLYLGSILVDEYGMEEGCRQG
LLDMLQALCIPTFQLLEQQNGLQNHPDTVDDLFRLATRFIQRSPVTLLRSQVVIPILQWA
IASTTLDHRDANCSVMRFLRDLIHTGVANDHEEDFELRKELIGQVMNQLGQQLVSQLLHT
CCFCLPPYTLPDVAEVLWEIMQVDRPTFCRWLENSLKGLPKETTVGAVTVTHKQLTDFHK
QVTSAEECKQVCWALRDFTRLFR
Sequence length 923
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Nucleocytoplasmic transport
Viral life cycle - HIV-1
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Limb-girdle muscular dystrophy MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, TNP03-related limb-girdle muscular dystrophy D2 rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782
View all (762 more)
31071488, 31192305, 23667635, 23543484, 31465518
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116
View all (10 more)
Muscular dystrophy Muscular Dystrophy rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913
View all (15 more)
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac Disease ClinVar
Cirrhosis Cirrhosis ClinVar
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Biliary Cholangitis Biliary Cholangitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 21807777, 27092776, 31169264
Autism Spectrum Disorder Associate 31674007
Autoimmune Diseases Associate 20639879, 25205108
Carcinoma Hepatocellular Associate 29375210
Carcinoma Renal Cell Inhibit 35876041
Developmental Disabilities Associate 31674007
Hepatitis B Chronic Associate 29375210
HIV Infections Associate 22398280, 24915079, 28356354, 31465518
Infections Associate 27783955, 35456945
Influenza Human Associate 35456945