IPO8 (importin 8) - Rat Genome Database

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Gene: IPO8 (importin 8) Homo sapiens
Analyze
Symbol: IPO8
Name: importin 8
RGD ID: 1343350
HGNC Page HGNC:9853
Description: Predicted to enable small GTPase binding activity. Predicted to be involved in protein import into nucleus. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nuclear envelope.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ21954; FLJ26580; imp8; importin-8; RAN binding protein 8; ran-binding protein 8; RANBP8; VISS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IPO8P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381230,628,988 - 30,695,869 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1230,628,988 - 30,695,869 (-)EnsemblGRCh38hg38GRCh38
GRCh371230,781,922 - 30,848,803 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361230,673,189 - 30,740,018 (-)NCBINCBI36Build 36hg18NCBI36
Build 341230,673,189 - 30,740,018NCBI
Celera1235,924,748 - 35,991,765 (-)NCBICelera
Cytogenetic Map12p11.21NCBI
HuRef1230,547,280 - 30,614,305 (-)NCBIHuRef
CHM1_11230,746,941 - 30,813,955 (-)NCBICHM1_1
T2T-CHM13v2.01230,503,650 - 30,570,532 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
VISS syndrome  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,TAS)
nuclear envelope  (IBA)
nucleoplasm  (TAS)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Alopecia  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic root aneurysm  (IAGP)
Aortic tortuosity  (IAGP)
Arachnodactyly  (IAGP)
Arterial dissection  (IAGP)
Arterial tortuosity  (IAGP)
Ascending tubular aorta aneurysm  (IAGP)
Asthma  (IAGP)
Atopic dermatitis  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid tongue  (IAGP)
Bifid uvula  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Broad uvula  (IAGP)
Bruising susceptibility  (IAGP)
Butterfly vertebrae  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac arrest  (IAGP)
Carotid artery dilatation  (IAGP)
Carotid artery tortuosity  (IAGP)
Celiac disease  (IAGP)
Chronic constipation  (IAGP)
Chronic diarrhea  (IAGP)
Chronic gastritis  (IAGP)
Congenital onset  (IAGP)
Contracture of the proximal interphalangeal joint of the 2nd toe  (IAGP)
Coronary sinus enlargement  (IAGP)
Craniosynostosis  (IAGP)
Cupped ear  (IAGP)
Cutis laxa  (IAGP)
Decreased circulating IgA level  (IAGP)
Deeply set eye  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Drug allergy  (IAGP)
Duodenitis  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Ectropion  (IAGP)
Emphysema  (IAGP)
Epidural hemorrhage  (IAGP)
Exostosis of the external auditory canal  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized joint laxity  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Hydronephrosis  (IAGP)
Hypereosinophilia  (IAGP)
Hyperextensible skin  (IAGP)
Hypertelorism  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Iliac artery aneurysm  (IAGP)
Increased circulating IgE level  (IAGP)
Increased circulating IgG level  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Joint dislocation  (IAGP)
Joint hyperflexibility  (IAGP)
Joint hypermobility  (IAGP)
Joint laxity  (IAGP)
Kyphosis  (IAGP)
Left aortic arch with retroesophageal right subclavian artery  (IAGP)
Long palpebral fissure  (IAGP)
Long toe  (IAGP)
Low-set ears  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Malposition of the stomach  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microretrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Nystagmus  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Polyhydramnios  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent superficial blood vessels  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery aneurysm  (IAGP)
Recurrent joint dislocation  (IAGP)
Retinal detachment  (IAGP)
Right ventricular dilatation  (IAGP)
Right ventricular hypertrophy  (IAGP)
Rocker bottom foot  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Sparse scalp hair  (IAGP)
Striae distensae  (IAGP)
Submucous cleft soft palate  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Thin skin  (IAGP)
Tortuous cerebral arteries  (IAGP)
Umbilical hernia  (IAGP)
Uterine rupture  (IAGP)
Ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9214382   PMID:10737800   PMID:11682607   PMID:12477932   PMID:16344560   PMID:16713569   PMID:17785517   PMID:17903295   PMID:17932509   PMID:18519565   PMID:19014639   PMID:19167051  
PMID:20360068   PMID:20462248   PMID:20562864   PMID:21145461   PMID:21873635   PMID:22658674   PMID:23027611   PMID:23472066   PMID:23906023   PMID:23956138   PMID:25921289   PMID:26168401  
PMID:26186194   PMID:26220098   PMID:26344197   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26687479   PMID:26972000   PMID:27114554   PMID:27173435   PMID:27277970   PMID:27591049  
PMID:28302793   PMID:28330616   PMID:28514442   PMID:28675297   PMID:28685749   PMID:28718761   PMID:29180619   PMID:29229926   PMID:29331416   PMID:29395067   PMID:29467281   PMID:29490077  
PMID:29507755   PMID:29777862   PMID:30154076   PMID:30352685   PMID:30833792   PMID:30948266   PMID:31091453   PMID:31298480   PMID:31665637   PMID:31678930   PMID:31980649   PMID:32203420  
PMID:32296183   PMID:32552912   PMID:32687490   PMID:32698014   PMID:32807901   PMID:32877691   PMID:33060197   PMID:33306668   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34010604  
PMID:34010605   PMID:34079125   PMID:34315543   PMID:34462429   PMID:34728620   PMID:35271311   PMID:35337019   PMID:35509820   PMID:35563538   PMID:35944360   PMID:36057605  


Genomics

Comparative Map Data
IPO8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381230,628,988 - 30,695,869 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1230,628,988 - 30,695,869 (-)EnsemblGRCh38hg38GRCh38
GRCh371230,781,922 - 30,848,803 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361230,673,189 - 30,740,018 (-)NCBINCBI36Build 36hg18NCBI36
Build 341230,673,189 - 30,740,018NCBI
Celera1235,924,748 - 35,991,765 (-)NCBICelera
Cytogenetic Map12p11.21NCBI
HuRef1230,547,280 - 30,614,305 (-)NCBIHuRef
CHM1_11230,746,941 - 30,813,955 (-)NCBICHM1_1
T2T-CHM13v2.01230,503,650 - 30,570,532 (-)NCBIT2T-CHM13v2.0
Ipo8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396148,672,181 - 148,732,980 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6148,672,181 - 148,732,965 (-)EnsemblGRCm39 Ensembl
GRCm386148,770,683 - 148,832,931 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6148,770,683 - 148,831,467 (-)EnsemblGRCm38mm10GRCm38
MGSCv376148,719,206 - 148,779,989 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366148,727,854 - 148,788,637 (-)NCBIMGSCv36mm8
Celera6151,807,825 - 151,869,431 (-)NCBICelera
Cytogenetic Map6G3NCBI
Ipo8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24181,729,216 - 181,793,673 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4181,729,220 - 181,793,161 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4187,999,563 - 188,064,053 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.04183,784,091 - 183,848,583 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.04182,404,583 - 182,469,077 (-)NCBIRnor_WKY
Rnor_6.04183,228,688 - 183,295,253 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4183,229,985 - 183,293,999 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.04247,359,871 - 247,424,869 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera4170,197,109 - 170,259,830 (-)NCBICelera
Cytogenetic Map4q44NCBI
Ipo8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555054,490,598 - 4,575,213 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555054,490,738 - 4,574,969 (+)NCBIChiLan1.0ChiLan1.0
IPO8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11258,216,536 - 58,282,985 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1258,216,536 - 58,282,985 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01255,588,898 - 55,655,894 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
IPO8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12717,568,938 - 17,640,719 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2717,568,937 - 17,638,842 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2728,778,208 - 28,849,711 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02717,751,925 - 17,823,426 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2717,751,905 - 17,823,419 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12717,561,215 - 17,632,884 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02717,592,139 - 17,663,736 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02728,930,300 - 29,001,855 (-)NCBIUU_Cfam_GSD_1.0
LOC101961741
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494578,176,690 - 78,242,056 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366075,009,972 - 5,159,341 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IPO8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl543,099,749 - 43,182,803 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1543,099,749 - 43,182,807 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2546,786,263 - 46,869,197 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IPO8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11130,314,477 - 30,381,306 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1130,314,201 - 30,381,241 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660694,617,262 - 4,684,748 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ipo8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247785,099,647 - 5,195,012 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247785,099,360 - 5,196,880 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IPO8
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 copy number loss See cases [RCV000133858] Chr12:25263833..34064528 [GRCh38]
Chr12:25416767..34217463 [GRCh37]
Chr12:25308034..34108730 [NCBI36]
Chr12:12p12.1-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3 copy number gain See cases [RCV000512134] Chr12:29579030..34835837 [GRCh37]
Chr12:12p11.22-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3 copy number gain See cases [RCV000512027] Chr12:29123400..40956186 [GRCh37]
Chr12:12p11.22-q12		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_006390.4(IPO8):c.82C>T (p.Gln28Ter) single nucleotide variant IPO8 related Connective tissue disorder [RCV001731200]|VISS SYNDROME [RCV002052439] Chr12:30695566 [GRCh38]
Chr12:30848500 [GRCh37]
Chr12:12p11.21		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_006390.4(IPO8):c.1045-8C>T single nucleotide variant not provided [RCV000949359] Chr12:30669290 [GRCh38]
Chr12:30822224 [GRCh37]
Chr12:12p11.21		 likely benign
NM_006390.4(IPO8):c.824+7A>G single nucleotide variant not provided [RCV000899706] Chr12:30674652 [GRCh38]
Chr12:30827586 [GRCh37]
Chr12:12p11.21		 benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_006390.4(IPO8):c.3047G>T (p.Gly1016Val) single nucleotide variant not provided [RCV000884739] Chr12:30630927 [GRCh38]
Chr12:30783861 [GRCh37]
Chr12:12p11.21		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006390.4(IPO8):c.2279del (p.Leu760fs) deletion IPO8 related Connective tissue disorder [RCV001731205]|VISS SYNDROME [RCV001553799] Chr12:30639725 [GRCh38]
Chr12:30792659 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.262G>A (p.Asp88Asn) single nucleotide variant IPO8 related Connective tissue disorder [RCV001731198]|VISS SYNDROME [RCV001553800] Chr12:30684362 [GRCh38]
Chr12:30837296 [GRCh37]
Chr12:12p11.21		 pathogenic|likely pathogenic
NM_006390.4(IPO8):c.1144+9G>A single nucleotide variant not provided [RCV000955199] Chr12:30669174 [GRCh38]
Chr12:30822108 [GRCh37]
Chr12:12p11.21		 benign
NM_006390.4(IPO8):c.1045-7A>T single nucleotide variant not provided [RCV000958661] Chr12:30669289 [GRCh38]
Chr12:30822223 [GRCh37]
Chr12:12p11.21		 likely benign
NM_006390.4(IPO8):c.1495G>A (p.Val499Ile) single nucleotide variant not provided [RCV000888151] Chr12:30663588 [GRCh38]
Chr12:30816522 [GRCh37]
Chr12:12p11.21		 likely benign
NM_006390.4(IPO8):c.2589C>T (p.Pro863=) single nucleotide variant not provided [RCV000889077] Chr12:30637088 [GRCh38]
Chr12:30790022 [GRCh37]
Chr12:12p11.21		 likely benign
NM_006390.4(IPO8):c.2500C>T (p.Arg834Trp) single nucleotide variant IPO8 related Connective tissue disorder [RCV001731204]|VISS SYNDROME [RCV002051940] Chr12:30637177 [GRCh38]
Chr12:30790111 [GRCh37]
Chr12:12p11.21		 pathogenic|likely pathogenic
NM_006390.4(IPO8):c.2129C>G (p.Ser710Ter) single nucleotide variant IPO8 related Connective tissue disorder [RCV001731207]|VISS SYNDROME [RCV002052441] Chr12:30652235 [GRCh38]
Chr12:30805169 [GRCh37]
Chr12:12p11.21		 pathogenic|likely pathogenic
NM_006390.4(IPO8):c.2695+4_2695+8del deletion VISS SYNDROME [RCV001553801] Chr12:30636974..30636978 [GRCh38]
Chr12:30789908..30789912 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.776G>A (p.Trp259Ter) single nucleotide variant IPO8-related aortopathy [RCV001507276]|VISS SYNDROME [RCV001553795] Chr12:30674707 [GRCh38]
Chr12:30827641 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.2347_2369del (p.Leu783fs) deletion IPO8-related aortopathy [RCV001507277] Chr12:30639635..30639657 [GRCh38]
Chr12:30792569..30792591 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.1420C>T (p.Arg474Ter) single nucleotide variant IPO8-related aortopathy [RCV001507271] Chr12:30665228 [GRCh38]
Chr12:30818162 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.770_777del (p.Val257fs) deletion IPO8-related aortopathy [RCV001507272] Chr12:30674706..30674713 [GRCh38]
Chr12:30827640..30827647 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.1000dup (p.Val334fs) duplication IPO8-related aortopathy [RCV001507273] Chr12:30671005..30671006 [GRCh38]
Chr12:30823939..30823940 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.2597_2601del (p.Leu866fs) deletion IPO8-related aortopathy [RCV001507275]|VISS SYNDROME [RCV001553798] Chr12:30637076..30637080 [GRCh38]
Chr12:30790010..30790014 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.1428+5G>A single nucleotide variant IPO8-related aortopathy [RCV001507274]|VISS SYNDROME [RCV001553797] Chr12:30665215 [GRCh38]
Chr12:30818149 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.2900-1G>A single nucleotide variant IPO8 related Connective tissue disorder [RCV001731197]|IPO8-related aortopathy [RCV001507278]|VISS SYNDROME [RCV001553796]|not provided [RCV002225829] Chr12:30632012 [GRCh38]
Chr12:30784946 [GRCh37]
Chr12:12p11.21		 pathogenic|likely pathogenic
NM_006390.4(IPO8):c.1538del (p.Pro513fs) deletion IPO8 related Connective tissue disorder [RCV001731202] Chr12:30663545 [GRCh38]
Chr12:30816479 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.2407C>T (p.Arg803Ter) single nucleotide variant IPO8 related Connective tissue disorder [RCV001731199]|VISS SYNDROME [RCV002052438] Chr12:30639597 [GRCh38]
Chr12:30792531 [GRCh37]
Chr12:12p11.21		 pathogenic|likely pathogenic
NM_006390.4(IPO8):c.2695+3_2695+7del deletion IPO8 related Connective tissue disorder [RCV001731201] Chr12:30636975..30636979 [GRCh38]
Chr12:30789909..30789913 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.728del (p.Pro243fs) deletion IPO8 related Connective tissue disorder [RCV001731206] Chr12:30676499 [GRCh38]
Chr12:30829433 [GRCh37]
Chr12:12p11.21		 pathogenic
NM_006390.4(IPO8):c.2245T>C (p.Cys749Arg) single nucleotide variant IPO8 related Connective tissue disorder [RCV001731203]|VISS SYNDROME [RCV002052440] Chr12:30649160 [GRCh38]
Chr12:30802094 [GRCh37]
Chr12:12p11.21		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006390.4(IPO8):c.700C>T (p.Arg234Ter) single nucleotide variant VISS SYNDROME [RCV002052444] Chr12:30676527 [GRCh38]
Chr12:30829461 [GRCh37]
Chr12:12p11.21		 likely pathogenic
NM_006390.4(IPO8):c.950A>G (p.Tyr317Cys) single nucleotide variant VISS SYNDROME [RCV002052446] Chr12:30671056 [GRCh38]
Chr12:30823990 [GRCh37]
Chr12:12p11.21		 uncertain significance
NM_006390.4(IPO8):c.1933C>T (p.Gln645Ter) single nucleotide variant VISS SYNDROME [RCV002052445] Chr12:30656699 [GRCh38]
Chr12:30809633 [GRCh37]
Chr12:12p11.21		 likely pathogenic
NM_006390.4(IPO8):c.2636G>A (p.Arg879Lys) single nucleotide variant not provided [RCV002275494] Chr12:30637041 [GRCh38]
Chr12:30789975 [GRCh37]
Chr12:12p11.21		 benign
NM_006390.4(IPO8):c.2268+6A>G single nucleotide variant not provided [RCV002275495] Chr12:30649131 [GRCh38]
Chr12:30802065 [GRCh37]
Chr12:12p11.21		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2055
Count of miRNA genes:976
Interacting mature miRNAs:1175
Transcripts:ENST00000256079, ENST00000358724, ENST00000535598, ENST00000535989, ENST00000538338, ENST00000540979, ENST00000542464, ENST00000543446, ENST00000544829, ENST00000545077
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH69811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,783,514 - 30,783,665UniSTSGRCh37
Build 361230,674,781 - 30,674,932RGDNCBI36
Celera1235,926,347 - 35,926,498RGD
Cytogenetic Map12p11.21UniSTS
HuRef1230,548,879 - 30,549,030UniSTS
GeneMap99-GB4 RH Map12122.35UniSTS
SGC31987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,781,921 - 30,782,070UniSTSGRCh37
Build 361230,673,188 - 30,673,337RGDNCBI36
Celera1235,924,754 - 35,924,903RGD
Cytogenetic Map12p11.21UniSTS
HuRef1230,547,286 - 30,547,435UniSTS
GeneMap99-GB4 RH Map12122.46UniSTS
Whitehead-RH Map12192.0UniSTS
NCBI RH Map12304.8UniSTS
A006S05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,782,848 - 30,783,003UniSTSGRCh37
Build 361230,674,115 - 30,674,270RGDNCBI36
Celera1235,925,681 - 35,925,836RGD
Cytogenetic Map12p11.21UniSTS
HuRef1230,548,213 - 30,548,368UniSTS
GeneMap99-GB4 RH Map12123.35UniSTS
Cda19e03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,781,974 - 30,782,054UniSTSGRCh37
Build 361230,673,241 - 30,673,321RGDNCBI36
Celera1235,924,807 - 35,924,887RGD
Cytogenetic Map12p11.21UniSTS
HuRef1230,547,339 - 30,547,419UniSTS
G62332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,806,112 - 30,806,385UniSTSGRCh37
Build 361230,697,379 - 30,697,652RGDNCBI36
Celera1235,948,947 - 35,949,220RGD
Cytogenetic Map12p11.21UniSTS
HuRef1230,571,492 - 30,571,765UniSTS
D12F92S2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,838,391 - 30,838,491UniSTSGRCh37
Build 361230,729,658 - 30,729,758RGDNCBI36
Celera1235,981,227 - 35,981,327RGD
Cytogenetic Map12p11.21UniSTS
HuRef1230,603,768 - 30,603,868UniSTS
D12S1242E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371230,783,119 - 30,783,270UniSTSGRCh37
Build 361230,674,386 - 30,674,537RGDNCBI36
Celera1235,925,952 - 35,926,103RGD
Cytogenetic Map12p11.21UniSTS
HuRef1230,548,484 - 30,548,635UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2343 1481 1439 364 1246 221 3881 1344 2184 343 1422 1591 156 1151 2344 3
Low 96 1502 287 260 697 244 476 853 1550 76 38 22 19 1 53 444 3 2
Below cutoff 8 8

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001190995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA620453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF947771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG574795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ435282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX953637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB067822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB072643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB088518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC400226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EB387074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256079   ⟹   ENSP00000256079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,628,988 - 30,695,869 (-)Ensembl
RefSeq Acc Id: ENST00000358724   ⟹   ENSP00000444050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,684,337 - 30,688,758 (-)Ensembl
RefSeq Acc Id: ENST00000535598   ⟹   ENSP00000446232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,631,626 - 30,637,149 (-)Ensembl
RefSeq Acc Id: ENST00000535989   ⟹   ENSP00000440979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,680,482 - 30,688,756 (-)Ensembl
RefSeq Acc Id: ENST00000538338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,686,524 - 30,688,759 (-)Ensembl
RefSeq Acc Id: ENST00000540979   ⟹   ENSP00000443789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,680,522 - 30,695,869 (-)Ensembl
RefSeq Acc Id: ENST00000542464   ⟹   ENSP00000439556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,669,268 - 30,677,160 (-)Ensembl
RefSeq Acc Id: ENST00000543446   ⟹   ENSP00000439413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,684,301 - 30,688,746 (-)Ensembl
RefSeq Acc Id: ENST00000544829   ⟹   ENSP00000444520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,630,472 - 30,677,244 (-)Ensembl
RefSeq Acc Id: ENST00000545077   ⟹   ENSP00000446254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,684,435 - 30,695,111 (-)Ensembl
RefSeq Acc Id: ENST00000611458   ⟹   ENSP00000481026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1230,680,372 - 30,681,817 (-)Ensembl
RefSeq Acc Id: NM_001190995   ⟹   NP_001177924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,628,988 - 30,677,244 (-)NCBI
GRCh371230,781,915 - 30,848,929 (-)RGD
Celera1235,924,748 - 35,991,765 (-)RGD
HuRef1230,547,280 - 30,614,305 (-)RGD
CHM1_11230,746,941 - 30,795,204 (-)NCBI
T2T-CHM13v2.01230,503,650 - 30,551,905 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006390   ⟹   NP_006381
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,628,988 - 30,695,869 (-)NCBI
GRCh371230,781,915 - 30,848,929 (-)RGD
Build 361230,673,189 - 30,740,018 (-)NCBI Archive
Celera1235,924,748 - 35,991,765 (-)RGD
HuRef1230,547,280 - 30,614,305 (-)RGD
CHM1_11230,746,941 - 30,813,955 (-)NCBI
T2T-CHM13v2.01230,503,650 - 30,570,532 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018691   ⟹   XP_016874180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,628,988 - 30,695,327 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018692   ⟹   XP_016874181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,628,988 - 30,685,890 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018693   ⟹   XP_016874182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,661,141 - 30,695,869 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006381   ⟸   NM_006390
- Peptide Label: isoform 1
- UniProtKB: B7Z7M3 (UniProtKB/Swiss-Prot),   O15397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177924   ⟸   NM_001190995
- Peptide Label: isoform 2
- UniProtKB: O15397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874180   ⟸   XM_017018691
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016874181   ⟸   XM_017018692
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016874182   ⟸   XM_017018693
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000439556   ⟸   ENST00000542464
RefSeq Acc Id: ENSP00000439413   ⟸   ENST00000543446
RefSeq Acc Id: ENSP00000444520   ⟸   ENST00000544829
RefSeq Acc Id: ENSP00000256079   ⟸   ENST00000256079
RefSeq Acc Id: ENSP00000446254   ⟸   ENST00000545077
RefSeq Acc Id: ENSP00000481026   ⟸   ENST00000611458
RefSeq Acc Id: ENSP00000446232   ⟸   ENST00000535598
RefSeq Acc Id: ENSP00000440979   ⟸   ENST00000535989
RefSeq Acc Id: ENSP00000443789   ⟸   ENST00000540979
RefSeq Acc Id: ENSP00000444050   ⟸   ENST00000358724
Protein Domains
Importin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15397-F1-model_v2 AlphaFold O15397 1-1037 view protein structure

Promoters
RGD ID:7223541
Promoter ID:EPDNEW_H17515
Type:initiation region
Name:IPO8_1
Description:importin 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381230,695,869 - 30,695,929EPDNEW
RGD ID:6790135
Promoter ID:HG_KWN:15282
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006390
Position:
Human AssemblyChrPosition (strand)Source
Build 361230,739,861 - 30,740,361 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9853 AgrOrtholog
COSMIC IPO8 COSMIC
Ensembl Genes ENSG00000133704 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000256079 ENTREZGENE
  ENSP00000256079.4 UniProtKB/Swiss-Prot
  ENSP00000439413.1 UniProtKB/TrEMBL
  ENSP00000439556.1 UniProtKB/TrEMBL
  ENSP00000440979.1 UniProtKB/TrEMBL
  ENSP00000443789.1 UniProtKB/TrEMBL
  ENSP00000444050.1 UniProtKB/TrEMBL
  ENSP00000444520 ENTREZGENE
  ENSP00000444520.1 UniProtKB/Swiss-Prot
  ENSP00000446232.1 UniProtKB/TrEMBL
  ENSP00000446254.1 UniProtKB/TrEMBL
  ENSP00000481026.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000256079 ENTREZGENE
  ENST00000256079.9 UniProtKB/Swiss-Prot
  ENST00000358724.4 UniProtKB/TrEMBL
  ENST00000535598.1 UniProtKB/TrEMBL
  ENST00000535989.1 UniProtKB/TrEMBL
  ENST00000540979.1 UniProtKB/TrEMBL
  ENST00000542464.1 UniProtKB/TrEMBL
  ENST00000543446.1 UniProtKB/TrEMBL
  ENST00000544829 ENTREZGENE
  ENST00000544829.5 UniProtKB/Swiss-Prot
  ENST00000545077.1 UniProtKB/TrEMBL
  ENST00000611458.4 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000133704 GTEx
HGNC ID HGNC:9853 ENTREZGENE
Human Proteome Map IPO8 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Importin-beta_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPO2_central UniProtKB/Swiss-Prot
KEGG Report hsa:10526 UniProtKB/Swiss-Prot
NCBI Gene 10526 ENTREZGENE
OMIM 605600 OMIM
  619472 OMIM
Pfam Cse1 UniProtKB/Swiss-Prot
  IBN_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34214 PharmGKB
PROSITE IMPORTIN_B_NT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IBN_N UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXH2_HUMAN UniProtKB/TrEMBL
  B7Z7M3 ENTREZGENE
  F5GXT5_HUMAN UniProtKB/TrEMBL
  F5H009_HUMAN UniProtKB/TrEMBL
  F5H244_HUMAN UniProtKB/TrEMBL
  F5H292_HUMAN UniProtKB/TrEMBL
  F5H2I3_HUMAN UniProtKB/TrEMBL
  F5H815_HUMAN UniProtKB/TrEMBL
  H0YH64_HUMAN UniProtKB/TrEMBL
  IPO8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B7Z7M3 UniProtKB/Swiss-Prot