Gene Gene information from NCBI Gene database.
Entrez ID 10526
Gene name Importin 8
Gene symbol IPO8
Synonyms (NCBI Gene)
RANBP8VISS
Chromosome 12
Chromosome location 12p11.21
Summary The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence mot
miRNA miRNA information provided by mirtarbase database.
203
miRTarBase ID miRNA Experiments Reference
MIRT020599 hsa-miR-155-5p Proteomics 18668040
MIRT023609 hsa-miR-1-3p Proteomics 18668040
MIRT032284 hsa-let-7b-5p Proteomics 18668040
MIRT041468 hsa-miR-193b-3p CLASH 23622248
MIRT440435 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17785517, 17932509, 19167051, 26168401, 26496610, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IBA
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605600 9853 ENSG00000133704
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15397
Protein name Importin-8 (Imp8) (Ran-binding protein 8) (RanBP8)
Protein function Involved in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, may serve as receptor for nuclear localization
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03810 IBN_N 22 102 Importin-beta N-terminal domain Family
PF08506 Cse1 173 449 Cse1 Family
Sequence
MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYL
KNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIR
SPDLVRVQLTMCLRAIIK
HDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLP
RIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQYALPLQLVNNQTMTTWMEIFRTIIDRT
VPPETLHIDEDDRPELVWWKCKKWALHIVARLFERYGSPGNVTKEYFEFSEFFLKTYAVG
IQQVLLKILDQYRQKEYVAPRVLQQAFNYLNQGVVHSITWKQMKPHIQNISEDVIFSVMC
YKDEDEELWQEDPYEYIRMKFDIFEDYASPTTAAQTLLYTAAKKRKEVLPKMMAFCYQIL
TDPNFDPRKKDGALHVIGSLAEILLKKSL
FKDQMELFLQNHVFPLLLSNLGYLRARSCWV
LHAFSSLKFHNELNLRNAVELAKKSLIEDKEMPVKVEAALALQSLISNQIQAKEYMKPHV
RPIMQELLHIVRETENDDVTNVIQKMICEYSQEVASIAVDMTQHLAEIFGKVLQSDEYEE
VEDKTVMAMGILHTIDTILTVVEDHKEITQQLENICLRIIDLVLQKHVIEFYEEILSLAY
SLTCHSISPQMWQLLGILYEVFQQDCFEYFTDMMPLLHNYVTIDTDTLLSNAKHLEILFT
MCRKVLCGDAGEDAECHAAKLLEVIILQCKGRGIDQCIPLFVQLVLERLTRGVKTSELRT
MCLQVAIAALYYNPDLLLHTLERIQLPHNPGPITVQFINQWMNDTDCFLGHHDRKMCIIG
LSILLELQNRPPAVDAVVGQIVPSILFLFLGLKQVCATRQLVNREDRSKAEKADMEENEE
ISSDEEETNVTAQAMQSNNGRGEDEEEEDDDWDEEVLEETALEGFSTPLDLDNSVDEYQF
FTQALITVQSRDAAWYQLLMAPLSEDQRTALQEVYTLAEHRRTVAEAKKKIEQQGGFTFE
NKGVLSAFNFGTVPSNN
Sequence length 1037
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport   Transcriptional regulation by small RNAs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
58
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IPO8 related Connective tissue disorder Likely pathogenic; Pathogenic rs1243135564, rs2136125277, rs1425433912, rs752299664, rs775937664, rs2136136946, rs1180377367, rs2136150891, rs2136165507, rs1234764565, rs2053331144 RCV001731197
RCV001731201
RCV001731204
RCV001731199
RCV001731205
RCV001731203
RCV001731207
RCV001731202
RCV001731206
RCV001731198
RCV001731200
IPO8-related aortopathy Likely pathogenic; Pathogenic rs1243135564, rs1565492786, rs2136127817, rs2136152576, rs1160566841, rs2136158926, rs2136163711, rs2136163716 RCV001507278
RCV001507275
RCV001507277
RCV001507274
RCV001507271
RCV001507273
RCV001507272
RCV001507276
IPO8-related disorder Likely pathogenic; Pathogenic rs1438426784 RCV003420659
VISS syndrome Likely pathogenic; Pathogenic rs1243135564, rs1565492786, rs2136152576, rs2136163716, rs1425433912, rs752299664, rs775937664, rs2136136946, rs1180377367, rs1234764565, rs2053331144, rs2136125267, rs1044428455, rs2136144177, rs1173889040
View all (1 more)
RCV001553796
RCV001553798
RCV001553797
RCV001553795
RCV002051940
RCV002052438
RCV001553799
RCV002052440
RCV002052441
RCV001553800
RCV002052439
RCV001553801
RCV002052444
RCV002052445
RCV003314300
RCV005636902
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs61748363 RCV005930222
Cervical cancer Benign rs61748363 RCV005930224
Clear cell carcinoma of kidney Benign rs61748363 RCV005930225
Gastric cancer Likely benign rs746079753 RCV005927301
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 20511187
Carcinoma Non Small Cell Lung Associate 28262749
Colorectal Neoplasms Associate 21059236
Endometrial Neoplasms Associate 32439920
Lung Neoplasms Associate 19014639
Osteoarthritis Associate 24080205
Psychotic Disorders Associate 29064472