IPO8 (importin 8)

2007-04-01  

Identity

HGNC
IPO8
LOCATION
12p11.21
LOCUSID
10526
ALIAS
RANBP8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10526
MIM: 605600
HGNC: 9853
Ensembl: ENSG00000133704

Variants:

dbSNP: 10526
ClinVar: 10526
TCGA: ENSG00000133704
COSMIC: IPO8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133704ENST00000256079O15397
ENSG00000133704ENST00000358724F5H009
ENSG00000133704ENST00000535598H0YH64
ENSG00000133704ENST00000535989F5GXT5
ENSG00000133704ENST00000540979F5H815
ENSG00000133704ENST00000542464F5H244
ENSG00000133704ENST00000543446F5H292
ENSG00000133704ENST00000544829O15397
ENSG00000133704ENST00000545077F5H2I3
ENSG00000133704ENST00000611458A0A087WXH2

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Gene Silencing by RNAREACTOMER-HSA-211000
Transcriptional regulation by small RNAsREACTOMER-HSA-5578749

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
340106042021Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.7
340106052021A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.6
340106042021Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.7
340106052021A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.6
271145542016Importin 8 mediates m7G cap-sensitive nuclear import of the eukaryotic translation initiation factor eIF4E.38
272779702016RUNX2 controls human IPO8 basal transcription in Saos-2 cells.0
271145542016Importin 8 mediates m7G cap-sensitive nuclear import of the eukaryotic translation initiation factor eIF4E.38
272779702016RUNX2 controls human IPO8 basal transcription in Saos-2 cells.0
262200982015Functional characterization of importin α8 as a classical nuclear localization signal receptor.10
262200982015Functional characterization of importin α8 as a classical nuclear localization signal receptor.10
239060232013KPNB1, XPO7 and IPO8 mediate the translocation ofNF-κB/p65 into the nucleus.50
239060232013KPNB1, XPO7 and IPO8 mediate the translocation ofNF-κB/p65 into the nucleus.50
191670512009Importin 8 is a gene silencing factor that targets argonaute proteins to distinct mRNAs.171
191670512009Importin 8 is a gene silencing factor that targets argonaute proteins to distinct mRNAs.171
185195652008Preferential utilization of Imp7/8 in nuclear import of Smads.42

Citation

Dessen P

IPO8 (importin 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47460/case-report-explorer/favicon/apple-touch-icon.png