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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
IPO8 related Connective tissue disorder Likely pathogenic; Pathogenic rs1243135564, rs2136125277, rs1425433912, rs752299664, rs775937664, rs2136136946, rs1180377367, rs2136150891, rs2136165507, rs1234764565, rs2053331144 RCV001731197
RCV001731201
RCV001731204
RCV001731199
RCV001731205
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IPO8-related aortopathy Likely pathogenic; Pathogenic rs1243135564, rs1565492786, rs2136127817, rs2136152576, rs1160566841, rs2136158926, rs2136163711, rs2136163716 RCV001507278
RCV001507275
RCV001507277
RCV001507274
RCV001507271
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IPO8-related disorder Likely pathogenic; Pathogenic rs1438426784 RCV003420659
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma Pubtator 20511187 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder GWASCAT_DG 29064472
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 19014639
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 21059236 Associate
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 24080205
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 26124453
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 32439920 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 30894197
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 24859296
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30112050
★☆☆☆☆
Found in Text Mining only