Gene Gene information from NCBI Gene database.
Entrez ID 23534
Gene name Transportin 3
Gene symbol TNPO3
Synonyms (NCBI Gene)
IPO12LGMD1FLGMDD2MTR10ATRN-SRTRN-SR2TRNSR
Chromosome 7
Chromosome location 7q32.1
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 wi
SNPs SNP information provided by dbSNP.
16
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.
275
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12628928, 15829567, 22872640, 24449914, 30916345, 31465518, 32296183
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IDA 31192305
GO:0005635 Component Nuclear envelope IEA
GO:0005642 Component Annulate lamellae IDA 31192305
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610032 17103 ENSG00000064419
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
557
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant limb-girdle muscular dystrophy type 1F Pathogenic; Likely pathogenic rs1804050408, rs587777430, rs587777431, rs1270399063, rs1479952680, rs1563083759 RCV001785073
RCV000122738
RCV000122739
RCV003132920
RCV003337964
RCV000778113
Muscular dystrophy, limb-girdle, autosomal dominant Likely pathogenic rs1563083759 RCV004797620
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs112438598 RCV005892872
Cholangiocarcinoma Benign rs2272347 RCV005902326
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs112438598 RCV005892884
Familial pancreatic carcinoma Benign rs112438598 RCV005892877
Associations from Text MiningDisease associations identified through Pubtator
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