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TNPO3 (transportin 3)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23534
Gene nameGene Name - the full gene name approved by the HGNC.
Transportin 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TNPO3
SynonymsGene synonyms aliases
IPO12, LGMD1F, LGMDD2, MTR10A, TRN-SR, TRN-SR2, TRNSR
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence 
MEGAKPTLQLVYQAVQALYHDPDPSGKERASFWLGELQRSVHAWEISDQLLQIRQDVESC
YFAAQTMKMKIQTSFYELPTDSHASLRDSLLTHIQNLKDLSPVIVTQLALAIADLALQMP
SWKGCVQTLVEKYSNDVTSLPFLLEILTVLPEEVHSRSLRIGANRRTEIIEDLAFYSSTV
VSLLMTCVEKAGTDEKMLMKVFRCLGSWFNLGVLDSNFMANNKLLALLFEVLQQDKTSSN
LHEAASDCVCSALYAIENVETNLPLAMQLFQGVLTLETAYHMAVAREDLDKVLNYCRIFT
ELCETFLEKIVCTPGQGLGDLRTLELLLICAGHPQYEVVEISFNFWYRLGEHLYKTNDEV
IHGIFKAYIQRLLHALARHCQLEPDHEGVPEETDDFGEFRMRVSDLVKDLIFLIGSMECF
AQLYSTLKEGNPPWEVTEAVLFIMAAIAKSVDPENNPTLVEVLEGVVRLPETVHTAVRYT
SIELVGEMSEVVDRNPQFLDPVLGYLMKGLCEKPLASAAAKAIHNICSVCRDHMAQHFNG
LLEIARSLDSFLLSPEAAVGLLKGTALVLARLPLDKITECLSELCSVQVMALKKLLSQEP
SNGISSDPTVFLDRLAVIFRHTNPIVENGQTHPCQKVIQEIWPVLSETLNKHRADNRIVE
RCCRCLRFAVRCVGKGSAALLQPLVTQMVNVYHVHQHSCFLYLGSILVDEYGMEEGCRQG
LLDMLQALCIPTFQLLEQQNGLQNHPDTVDDLFRLATRFIQRSPVTLLRSQVVIPILQWA
IASTTLDHRDANCSVMRFLRDLIHTGVANDHEEDFELRKELIGQVMNQLGQQLVSQLLHT
CCFCLPPYTLPDVAEVLWEIMQVDRPTFCRWLENSLKGLPKETTVGAVTVTHKQLTDFHK
QVTSAEECKQVCWALRDFTRLFR
Sequence length 923
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Nucleocytoplasmic transport
Viral life cycle - HIV-1 		 
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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, rs119462982, rs193919335, rs28940869, rs193919336, rs28937900, rs587777823, rs104894682, rs28937901, rs28937903, rs28937905, rs104894689, rs104894691, rs104894692, rs121908110, rs104894655, rs786205076, rs121908955, rs786200896, rs786205082, rs121908956, rs745891180, rs121908957, rs28937581, rs121908958, rs121908959, rs121908960, rs121908961, rs786205083, rs121908963, rs786200897, rs786200898, rs727503909, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045, rs28936383, rs104893868, rs751427729, rs1578125670, rs104893869, rs104893870, rs104893871, rs137852621, rs137852622, rs28933693, rs397514451, rs137852623, rs281864927, rs281864928, rs121913572, rs80338802, rs121434544, rs121434545, rs121434546, rs121434547, rs1555423217, rs267606703, rs80338803, rs80338800, rs121434548, rs786205084, rs80338801, rs864309673, rs387907046, rs387907047, rs149278319, rs387907150, rs387907298, rs202247791, rs202247790, rs281864930, rs281865464, rs137854528, rs397514501, rs397515400, rs150518260, rs397517547, rs397517643, rs397517921, rs386834012, rs138642840, rs386834019, rs397509417, rs397509418, rs397509422, rs397509424, rs397509425, rs397509426, rs202160208, rs142336618, rs199922550, rs371675217, rs398123098, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149, rs398123150, rs398123262, rs398123373, rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs140108514, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs398123794, rs398123796, rs398123797, rs398123799, rs373585652, rs398123800, rs398123802, rs398123807, rs201869739, rs398124395, rs199501657, rs398124625, rs587780289, rs587780290, rs587780423, rs587777423, rs587777430, rs587777431, rs137854526, rs137854527, rs45495192, rs587777669, rs587777797, rs587777798, rs587784483, rs727504535, rs727503422, rs727503839, rs727503911, rs141656719, rs143570936, rs727503837, rs727503910, rs727503915, rs757888349, rs768814872, rs786204786, rs200923373, rs796065318, rs794726871, rs796065319, rs557164942, rs794727158, rs762471207, rs797044667, rs794727318, rs201049092, rs794727350, rs778768583, rs756328339, rs794727544, rs370874727, rs794727636, rs201725369, rs766016391, rs794727697, rs794727745, rs760608643, rs794727851, rs141497053, rs794729178, rs797045106, rs797045427, rs766341386, rs779987458, rs1801505, rs376107921, rs863224933, rs863225020, rs863225019, rs746873768, rs369607332, rs863225021, rs372221490, rs566415362, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224956, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs758647756, rs869025337, rs869025562, rs779129892, rs869312122, rs543860009, rs150877497, rs878854367, rs878854364, rs869320700, rs869320701, rs759982570, rs869320702, rs142908436, rs875989850, rs875989851, rs1553775212, rs875989949, rs876657664, rs878854324, rs879255612, rs746315830, rs886039573, rs747349942, rs886039597, rs886041052, rs886041053, rs199870606, rs761211705, rs776043976, rs886041335, rs886041387, rs1555421871, rs886042091, rs886042093, rs547818652, rs886042108, rs886042110, rs749099493, rs200646556, rs80338804, rs761897806, rs149914792, rs543163491, rs886042379, rs886042389, rs868791726, rs369552114, rs886042418, rs886042439, rs886042440, rs528417986, rs764459544, rs151317754, rs886042478, rs886042503, rs886042504, rs886042506, rs139836397, rs770617208, rs886042540, rs886042546, rs886042557, rs886042573, rs886042578, rs886042584, rs768090444, rs886042617, rs753861836, rs886042641, rs200502077, rs886042749, rs886042757, rs777323132, rs753360208, rs886042827, rs202218890, rs752492870, rs773827877, rs886042895, rs138945081, rs149827237, rs886042951, rs776059672, rs886042964, rs780264754, rs779701414, rs769721856, rs886043031, rs142073798, rs770894443, rs777483913, rs760205277, rs368970223, rs886043221, rs281865480, rs372210292, rs746243052, rs886043392, rs746935735, rs886043432, rs778065845, rs781013226, rs756339648, rs886043706, rs886043752, rs758775001, rs886043860, rs773001194, rs747557404, rs886043900, rs886043962, rs886043964, rs886043966, rs886044004, rs747719953, rs886044052, rs775130589, rs886044083, rs199806879, rs886044183, rs766433603, rs147764579, rs781760379, rs757481230, rs886044377, rs886044379, rs886044381, rs886044411, rs747289205, rs886044422, rs752848213, rs886044475, rs200206447, rs753650776, rs886044527, rs761257703, rs886044688, rs1057516051, rs1057516515, rs780596734, rs1057517051, rs1057516360, rs747809412, rs1057517064, rs1057517205, rs773884973, rs1057517107, rs1057516300, rs1057516650, rs1057517142, rs763986788, rs1057516242, rs1057516888, rs1057516664, rs1057517377, rs1057516548, rs1057516729, rs550944082, rs1057519132, rs150331292, rs1057521141, rs754415994, rs1057524468, rs375159973, rs1554094947, rs1064794020, rs1064797040, rs1064793620, rs144356125, rs1085307995, rs1085307534, rs1131692158, rs750195040, rs1555568335, rs1555568318, rs1555420475, rs199954546, rs1555606976, rs1403946332, rs1553482872, rs1553543506, rs1554269966, rs1555420075, rs769688710, rs778568339, rs769785004, rs1554009901, rs1186858080, rs140403642, rs1553940687, rs775458201, rs751427686, rs1553940274, rs1380525804, rs1168346560, rs1555248000, rs200379491, rs752640127, rs200166783, rs1327595249, rs1290836394, rs753811189, rs1023002894, rs1553420848, rs1553555585, rs369784333, rs901764287, rs1285082850, rs766156798, rs1555568518, rs1573744795, rs1555568264, rs766334893, rs1555423060, rs138254713, rs1342189589, rs1555421523, rs747685252, rs1555421524, rs1555420462, rs142004418, rs1247934219, rs756118312, rs1553556116, rs1553522133, rs555514820, rs147774793, rs1553416025, rs776472879, rs1274808359, rs1555420634, rs112500642, rs188150039, rs1446214240, rs1366387924, rs1220674950, rs1009131948, rs1250461669, rs1555606959, rs201518227, rs1553521119, rs1013015106, rs773386253, rs1554007706, rs1553939675, rs1448040082, rs561719071, rs745967703, rs1275289254, rs1555420642, rs1301397800, rs770905160, rs200916654, rs758058910, rs773736505, rs1554930314, rs1259378167, rs1553495983, rs1278864604, rs1553521017, rs1553522730, rs779969348, rs139258703, rs1553376558, rs1553381945, rs1474151297, rs766891289, rs1553531682, rs766936914, rs199543257, rs1420930684, rs1553376691, rs757917335, rs1553408378, rs751473506, rs1451269647, rs1459713589, rs1553522104, rs1553522751, rs768546511, rs1553535902, rs1236367931, rs1553541329, rs1380642629, rs778092738, rs1213965862, rs1553412826, rs1553422709, rs1553422723, rs1553518087, rs1553536007, rs1553537332, rs1553542142, rs750028300, rs763674597, rs1553377764, rs1553414413, rs1553415211, rs909564120, rs771257070, rs1264362642, rs1267810339, rs1553940262, rs1553940079, rs762652676, rs1553940661, rs1553940663, rs1553940957, rs762114570, rs1555234810, rs1555247973, rs780348174, rs1555234799, rs913248720, rs1555248289, rs1199421806, rs1555240119, rs758078849, rs1555245353, rs1555420468, rs1555420507, rs1345121557, rs1555421263, rs1555422293, rs1555422298, rs1555422832, rs1555423021, rs1555417271, rs1555420302, rs750083132, rs1555420765, rs746075428, rs1555422954, rs760919949, rs764086484, rs1555420647, rs1555421271, rs1555421847, rs1334369407, rs1555423015, rs768374736, rs1555423046, rs1555417257, rs1555417321, rs1555420083, rs1459288402, rs1555421280, rs1555421293, rs1555421842, rs1555421854, rs1293496023, rs767739787, rs1555422839, rs1555422847, rs1555422856, rs777636094, rs1555423027, rs766917640, rs1555423146, rs1447774727, rs1555423222, rs1412537279, rs1555568775, rs1555569339, rs903823830, rs1555568965, rs1555569342, rs763372958, rs1555738245, rs1555738502, rs1555738568, rs1555738651, rs752731569, rs1555738764, rs765885747, rs1555738149, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs1555739041, rs748087383, rs768606230, rs1555568325, rs1555568396, rs1555568876, rs770711331, rs1191737604, rs1555738823, rs1173430388, rs1555738204, rs1555738311, rs1555738456, rs1555738686, rs1555738675, rs1483781400, rs754403441, rs1555739280, rs1555739333, rs1553416039, rs1559697515, rs1554094927, rs1566965806, rs754761503, rs1162942997, rs1567739339, rs1566975163, rs766400853, rs1562273395, rs1562497781, rs1562200866, rs1559446852, rs1563083759, rs1559177278, rs534484592, rs1567739228, rs1598277713, rs1566983844, rs769873428, rs1564930625, rs1567739735, rs1567741398, rs1432706111, rs756689063, rs1558708492, rs1566011034, rs1387802849, rs760915007, rs1559267059, rs767120669, rs1180079162, rs762946781, rs1566984441, rs1559053603, rs1558771348, rs1560034617, rs569565392, rs1483190866, rs750976634, rs750443041, rs1456182703, rs1559109621, rs1562137622, rs1562133291, rs796206315, rs1332603843, rs763586263, rs191912891, rs761935462, rs1558783870, rs777924443, rs1558613592, rs1583845651, rs1574340607, rs1573704236, rs1574016452, rs778326858, rs887577241, rs1337417322, rs1574097294, rs758993965, rs1574354515, rs1573060017, rs1397263011, rs1262459682, rs1595821204, rs781723572, rs1595838545, rs1595845459, rs1595846922, rs1598265248, rs748798133, rs1180978840, rs1571735403, rs1595826673, rs1583591577, rs1573100371, rs778539477, rs1573671276, rs1573094789, rs866823474, rs1599937963, rs1593197637, rs1364860348, rs754889480, rs1574277160, rs1573138336, rs746844753, rs1577824925, rs936193061, rs1578126090, rs1185229314, rs1392196900, rs776988725, rs11581962, rs1595837172, rs1595794433, rs1575185742, rs1575285509, rs557526069, rs753711667, rs1574264671, rs758107024, rs1574341049, rs1572994572, rs1573009747, rs1590300702, rs1233836740, rs1593216248, rs1229291913, rs1595828703, rs1555421532, rs1595844413, rs1595847257, rs778851652, rs1200988060, rs1574817395, rs575938861, rs1648544786, rs971134497, rs762398889, rs1395588065, rs1737457235, rs1776950897, rs1351510337, rs1881219252, rs1011397929, rs1325816562, rs2052593499, rs2053401167, rs2053442769, rs1566975090, rs763719290, rs2053485642, rs2053509916, rs1409503203, rs774048414, rs2054186817, rs1457010016, rs1904771410, rs1904986620, rs1905103030, rs1905167458, rs1905254738, rs1905256830, rs760989961, rs905322985, rs756798409, rs1883152345, rs113109898, rs1437210856, rs1311819000, rs1054547392, rs150877512, rs1688921542 31071488, 31192305, 23667635, 23543484, 31465518
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Muscular dystrophy Muscular Dystrophy rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Unknown
Disease name Disease term dbSNP ID References
Biliary cholangitis Primary biliary cholangitis
Biliary cirrhosis Biliary cirrhosis, Primary biliary cirrhosis 21399635, 21399635, 22936693, 22961000
Celiac disease Celiac Disease rs2305764, rs35218876
Cirrhosis Cirrhosis rs119465999, rs144369314, rs8056684, rs112053857, rs75998507

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