TNPO3 (transportin 3)

Gene

• Entrez ID: 23534
• Gene name: Transportin 3
• Gene symbol: TNPO3
• Synonyms (NCBI Gene): IPO12, LGMD1F, LGMDD2, MTR10A, TRN-SR, TRN-SR2, TRNSR
• 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 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
rs142268279	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148885407	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs201210726	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs567711266	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs587777430	T>-	Pathogenic	Frameshift variant, terminator codon variant, non coding transcript variant, stop lost
rs587777431	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs750548861	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs769500215	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs773574448	A>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, frameshift variant
rs1563083759	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1585339231	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

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
MIRT031422	hsa-miR-16-5p	Proteomics	18668040
MIRT031422	hsa-miR-16-5p	CLASH	23622248
MIRT050985	hsa-miR-17-5p	CLASH	23622248
MIRT046428	hsa-miR-15b-5p	CLASH	23622248
MIRT045648	hsa-miR-149-5p	CLASH	23622248
MIRT042607	hsa-miR-423-3p	CLASH	23622248
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT698144	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT698142	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT698143	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT698141	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT665696	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT665697	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT665695	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT665694	hsa-miR-940	HITS-CLIP	23824327
MIRT665693	hsa-miR-3929	HITS-CLIP	23824327
MIRT665692	hsa-miR-4419b	HITS-CLIP	23824327
MIRT665691	hsa-miR-4478	HITS-CLIP	23824327
MIRT665690	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT665689	hsa-miR-4459	HITS-CLIP	23824327
MIRT665688	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT665687	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT665686	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT665685	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT665684	hsa-miR-1827	HITS-CLIP	23824327
MIRT665683	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT665682	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT665681	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT665680	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT665679	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT665678	hsa-miR-711	HITS-CLIP	23824327
MIRT665677	hsa-miR-665	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT652315	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	21572407
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	21572407
MIRT515632	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT515631	hsa-miR-5693	PAR-CLIP	21572407
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT515628	hsa-miR-4284	PAR-CLIP	21572407
MIRT030364	hsa-miR-24-3p	PAR-CLIP	21572407
MIRT515626	hsa-miR-7977	PAR-CLIP	21572407
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	23446348
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	23446348
MIRT515632	hsa-miR-383-3p	PAR-CLIP	23446348
MIRT515631	hsa-miR-5693	PAR-CLIP	23446348
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	23446348
MIRT515629	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT515628	hsa-miR-4284	PAR-CLIP	23446348
MIRT030364	hsa-miR-24-3p	PAR-CLIP	23446348
MIRT515627	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT515626	hsa-miR-7977	PAR-CLIP	23446348
MIRT515625	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT439407	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT439407	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT698144	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT698142	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT698143	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT698141	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT665696	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT665697	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT665695	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT665694	hsa-miR-940	HITS-CLIP	23824327
MIRT665693	hsa-miR-3929	HITS-CLIP	23824327
MIRT665692	hsa-miR-4419b	HITS-CLIP	23824327
MIRT665691	hsa-miR-4478	HITS-CLIP	23824327
MIRT665690	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT665689	hsa-miR-4459	HITS-CLIP	23824327
MIRT665688	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT665687	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT665686	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT665685	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT665684	hsa-miR-1827	HITS-CLIP	23824327
MIRT665683	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT665682	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT665681	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT665680	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT665679	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT665678	hsa-miR-711	HITS-CLIP	23824327
MIRT665677	hsa-miR-665	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT652315	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	21572407
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	21572407
MIRT515632	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT515631	hsa-miR-5693	PAR-CLIP	21572407
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT515628	hsa-miR-4284	PAR-CLIP	21572407
MIRT030364	hsa-miR-24-3p	PAR-CLIP	21572407
MIRT515626	hsa-miR-7977	PAR-CLIP	21572407
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	23446348
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	23446348
MIRT515632	hsa-miR-383-3p	PAR-CLIP	23446348
MIRT515631	hsa-miR-5693	PAR-CLIP	23446348
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	23446348
MIRT515629	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT515628	hsa-miR-4284	PAR-CLIP	23446348
MIRT030364	hsa-miR-24-3p	PAR-CLIP	23446348
MIRT515627	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT515626	hsa-miR-7977	PAR-CLIP	23446348
MIRT515625	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT1444500	hsa-miR-1207-5p	CLIP-seq
MIRT1444501	hsa-miR-129-3p	CLIP-seq
MIRT1444502	hsa-miR-146b-3p	CLIP-seq
MIRT1444503	hsa-miR-147b	CLIP-seq
MIRT1444504	hsa-miR-185	CLIP-seq
MIRT1444505	hsa-miR-188-5p	CLIP-seq
MIRT1444506	hsa-miR-210	CLIP-seq
MIRT1444507	hsa-miR-30a	CLIP-seq
MIRT1444508	hsa-miR-30b	CLIP-seq
MIRT1444509	hsa-miR-30c	CLIP-seq
MIRT1444510	hsa-miR-30d	CLIP-seq
MIRT1444511	hsa-miR-30e	CLIP-seq
MIRT1444512	hsa-miR-3123	CLIP-seq
MIRT1444513	hsa-miR-3173-3p	CLIP-seq
MIRT1444514	hsa-miR-3175	CLIP-seq
MIRT1444515	hsa-miR-329	CLIP-seq
MIRT1444516	hsa-miR-33a	CLIP-seq
MIRT1444517	hsa-miR-33b	CLIP-seq
MIRT1444518	hsa-miR-3607-3p	CLIP-seq
MIRT1444519	hsa-miR-3646	CLIP-seq
MIRT1444520	hsa-miR-3692	CLIP-seq
MIRT1444521	hsa-miR-3942-3p	CLIP-seq
MIRT1444522	hsa-miR-425	CLIP-seq
MIRT1444523	hsa-miR-4256	CLIP-seq
MIRT1444524	hsa-miR-4281	CLIP-seq
MIRT1444525	hsa-miR-4306	CLIP-seq
MIRT1444526	hsa-miR-4311	CLIP-seq
MIRT1444527	hsa-miR-4501	CLIP-seq
MIRT1444528	hsa-miR-4644	CLIP-seq
MIRT1444529	hsa-miR-4687-5p	CLIP-seq
MIRT1444530	hsa-miR-4725-5p	CLIP-seq
MIRT1444531	hsa-miR-4736	CLIP-seq
MIRT1444532	hsa-miR-4740-3p	CLIP-seq
MIRT1444533	hsa-miR-4763-3p	CLIP-seq
MIRT1444534	hsa-miR-4779	CLIP-seq
MIRT1444535	hsa-miR-4780	CLIP-seq
MIRT1444536	hsa-miR-4803	CLIP-seq
MIRT1444537	hsa-miR-504	CLIP-seq
MIRT1444538	hsa-miR-579	CLIP-seq
MIRT1444539	hsa-miR-623	CLIP-seq
MIRT1444540	hsa-miR-642b	CLIP-seq
MIRT1444541	hsa-miR-802	CLIP-seq
MIRT1444542	hsa-miR-887	CLIP-seq
MIRT1444543	hsa-miR-933	CLIP-seq
MIRT1444500	hsa-miR-1207-5p	CLIP-seq
MIRT1444544	hsa-miR-1301	CLIP-seq
MIRT1444505	hsa-miR-188-5p	CLIP-seq
MIRT1444545	hsa-miR-3121-5p	CLIP-seq
MIRT1444512	hsa-miR-3123	CLIP-seq
MIRT1444546	hsa-miR-3179	CLIP-seq
MIRT1444547	hsa-miR-3611	CLIP-seq
MIRT1444521	hsa-miR-3942-3p	CLIP-seq
MIRT1444523	hsa-miR-4256	CLIP-seq
MIRT1444524	hsa-miR-4281	CLIP-seq
MIRT1444548	hsa-miR-4446-3p	CLIP-seq
MIRT1444527	hsa-miR-4501	CLIP-seq
MIRT1444549	hsa-miR-4660	CLIP-seq
MIRT1444550	hsa-miR-4687-3p	CLIP-seq
MIRT1444530	hsa-miR-4725-5p	CLIP-seq
MIRT1444531	hsa-miR-4736	CLIP-seq
MIRT1444532	hsa-miR-4740-3p	CLIP-seq
MIRT1444533	hsa-miR-4763-3p	CLIP-seq
MIRT1444551	hsa-miR-4778-3p	CLIP-seq
MIRT1444552	hsa-miR-4793-3p	CLIP-seq
MIRT1444553	hsa-miR-483-3p	CLIP-seq
MIRT1444554	hsa-miR-494	CLIP-seq
MIRT1444537	hsa-miR-504	CLIP-seq
MIRT1444555	hsa-miR-5047	CLIP-seq
MIRT1444542	hsa-miR-887	CLIP-seq
MIRT2133029	hsa-miR-1228	CLIP-seq
MIRT2133030	hsa-miR-1262	CLIP-seq
MIRT2133031	hsa-miR-3064-3p	CLIP-seq
MIRT1444516	hsa-miR-33a	CLIP-seq
MIRT1444517	hsa-miR-33b	CLIP-seq
MIRT2133032	hsa-miR-3620	CLIP-seq
MIRT2133033	hsa-miR-3920	CLIP-seq
MIRT2133034	hsa-miR-4277	CLIP-seq
MIRT2133035	hsa-miR-4282	CLIP-seq
MIRT2133036	hsa-miR-4474-5p	CLIP-seq
MIRT2133037	hsa-miR-4652-3p	CLIP-seq
MIRT2133038	hsa-miR-4701-3p	CLIP-seq
MIRT2133039	hsa-miR-4727-5p	CLIP-seq
MIRT2133040	hsa-miR-4749-3p	CLIP-seq
MIRT2133041	hsa-miR-4762-3p	CLIP-seq
MIRT2133042	hsa-miR-4769-3p	CLIP-seq
MIRT1444536	hsa-miR-4803	CLIP-seq
MIRT1444538	hsa-miR-579	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT1444541	hsa-miR-802	CLIP-seq
MIRT2354087	hsa-miR-371b-3p	CLIP-seq
MIRT2354088	hsa-miR-4290	CLIP-seq
MIRT2354089	hsa-miR-4768-5p	CLIP-seq
MIRT2354090	hsa-miR-495	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT2354091	hsa-miR-654-3p	CLIP-seq
MIRT2462113	hsa-miR-4469	CLIP-seq
MIRT2354089	hsa-miR-4768-5p	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT2462113	hsa-miR-4469	CLIP-seq
MIRT1444530	hsa-miR-4725-5p	CLIP-seq
MIRT1444537	hsa-miR-504	CLIP-seq
MIRT1444501	hsa-miR-129-3p	CLIP-seq
MIRT1444502	hsa-miR-146b-3p	CLIP-seq
MIRT1444505	hsa-miR-188-5p	CLIP-seq
MIRT2693806	hsa-miR-27a	CLIP-seq
MIRT2693807	hsa-miR-27b	CLIP-seq
MIRT1444507	hsa-miR-30a	CLIP-seq
MIRT1444508	hsa-miR-30b	CLIP-seq
MIRT1444509	hsa-miR-30c	CLIP-seq
MIRT1444510	hsa-miR-30d	CLIP-seq
MIRT1444511	hsa-miR-30e	CLIP-seq
MIRT1444518	hsa-miR-3607-3p	CLIP-seq
MIRT1444529	hsa-miR-4687-5p	CLIP-seq
MIRT1444535	hsa-miR-4780	CLIP-seq
MIRT2693808	hsa-miR-513a-5p	CLIP-seq
MIRT1444539	hsa-miR-623	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT1444540	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IDA	12628928, 24449914, 30916345, 31465518
GO:0006606	Process	Protein import into nucleus	IEA
GO:0015031	Process	Protein transport	IEA
GO:0031267	Function	Small GTPase binding	IDA	23878195, 24449914
GO:0042802	Function	Identical protein binding	IPI	22872640
GO:0061608	Function	Nuclear import signal receptor activity	TAS	10366588

Other IDs

• MIM: 610032
• HGNC: 17103
• e!Ensembl: 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
  LHEAASDCVCSALYAIENVETNLPLAMQLFQGVLTLETAYHMAVAREDLDKVLNYCRIFT
  ELCETFLEKIVCTPGQGLGDLRTLELLLICAGHPQYEVVEISFNFWYRLGEHLYKTNDEV
  IHGIFKAYIQRLLHALARHCQLEPDHEGVPEETDDFGEFRMRVSDLVKDLIFLIGSMECF
  AQLYSTLKEGNPPWEVTEAVLFIMAAIAKSVDPENNPTLVEVLEGVVRLPETVHTAVRYT
  SIELVGEMSEVVDRNPQFLDPVLGYLMKGLCEKPLASAAAKAIHNICSVCRDHMAQHFNG
  LLEIARSLDSFLLSPEAAVGLLKGTALVLARLPLDKITECLSELCSVQVMALKKLLSQEP
  SNGISSDPTVFLDRLAVIFRHTNPIVENGQTHPCQKVIQEIWPVLSETLNKHRADNRIVE
  RCCRCLRFAVRCVGKGSAALLQPLVTQMVNVYHVHQHSCFLYLGSILVDEYGMEEGCRQG
  LLDMLQALCIPTFQLLEQQNGLQNHPDTVDDLFRLATRFIQRSPVTLLRSQVVIPILQWA
  IASTTLDHRDANCSVMRFLRDLIHTGVANDHEEDFELRKELIGQVMNQLGQQLVSQLLHT
  CCFCLPPYTLPDVAEVLWEIMQVDRPTFCRWLENSLKGLPKETTVGAVTVTHKQLTDFHK
  QVTSAEECKQVCWALRDFTRLFR

• Sequence length: 923

Pathways

KEGG:

Nucleocytoplasmic transport
Viral life cycle - HIV-1

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant limb-girdle muscular dystrophy type 1F	Pathogenic; Likely pathogenic	rs1804050408, rs587777430, rs587777431, rs1270399063, rs1479952680, rs1563083759	RCV001785073 RCV000122738 RCV000122739 RCV003132920 RCV003337964 RCV000778113	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy, limb-girdle, autosomal dominant	Likely pathogenic	rs1563083759	RCV004797620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-CENTROMERE-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-TOPOISOMERASE-I-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISORDER OF MUSCULOSKELETAL SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LIMB GIRDLE MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMITED SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapular winging	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TNPO3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21807777, 27092776, 31169264	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31674007	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31674007		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	20639879, 25205108	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25205108		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	GWASCAT_DG	21399635		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29375210	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35876041	Inhibit	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatographic urticaria	Dermatographic urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31674007	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	29375210	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31341054		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29375210	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	20639879, 20639880, 24915079, 25205108	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17133578, 17189288, 17389033, 18200047, 18668568, 19854706, 20112383, 23372721, 25205108, 26606652, 31421124	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204446, 21408207, 23053960, 24871463		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	21408207, 23053960, 26606652, 27193031, 28714469, 30573655		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25205108, 26606652, 31421124		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	23543484, 31071488, 31465518		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	23543484		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E	Limb-Girdle Muscular Dystrophy	BEFREE	24647604		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F	Limb-Girdle Muscular Dystrophy	UNIPROT_DG	23543484, 23667635, 31071488, 31192305, 31465518		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F	Limb-Girdle Muscular Dystrophy	ORPHANET_DG	23543484		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F	Limb-Girdle Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F	Limb-Girdle Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23543484, 31217819		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31674007		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cholangitis	Biliary Cholangitis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635, 22936693, 22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	21399635, 22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	21506939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	27193031, 30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	22440820, 23372721, 25205108, 31421124, 31980060	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	24097067, 38016737	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren`s Syndrome	Sjogren`s Syndrome	GWASCAT_DG	24097067		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	24387989, 29293537, 30573655, 31672989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	31421124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TNP03-related limb-girdle muscular dystrophy D2	Limb-girdle muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only