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mutLBSgeneDB |
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| Gene summary for KPNA2 |
 Gene summary |
| Basic gene Info. | Gene symbol | KPNA2 |
| Gene name | karyopherin alpha 2 (RAG cohort 1, importin alpha 1) | |
| Synonyms | IPOA1|QIP2|RCH1|SRP1alpha | |
| Cytomap | UCSC genome browser: 17q24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002266.2, | |
| Description | RAG cohort 1RAG cohort protein 1SRP1-alphaimportin alpha 1importin alpha 2importin subunit alpha-1importin subunit alpha-2importin-alpha-P1karyopherin subunit alpha-2pendulin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600685 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000182481 | ||
| HPRD : 02818 | ||
| Vega : OTTHUMG00000179784 | ||
| Protein | UniProt: P52292 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KPNA2 | |
| BioGPS: 3838 | ||
| Pathway | NCI Pathway Interaction Database: KPNA2 | |
| KEGG: KPNA2 | ||
| REACTOME: KPNA2 | ||
| Pathway Commons: KPNA2 | ||
| Context | iHOP: KPNA2 | |
| ligand binding site mutation search in PubMed: KPNA2 | ||
| UCL Cancer Institute: KPNA2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006607 | NLS-bearing protein import into nucleus | 17324944 |
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| Ligand binding site mutations for KPNA2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N228 | R227C | COAD | 1 | W399 | W399L | LUSC | 1 | E396 | E396A | SKCM | 1 | Q181 | A182T | STAD | 1 | W399 | V401M | STAD | 1 | A364 | A364V | STAD | 1 | N235,W231 | L233H | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for KPNA2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | A364 | A364V | 0.17849651 | W231 | L233H | -1.4097549 | N235 | L233H | -1.4097549 | W399 | V401M | -1.1466746 | E396 | E396A | -1.0795915 | Q181 | A182T | -0.62778367 | N228 | R227C | -0.49987917 | W399 | W399L | -0.1008953 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for KPNA2 from PDB |
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| Differential gene expression and gene-gene network for KPNA2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for KPNA2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KPNA2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KPNA2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LYS,LYS,SER) | 4wv6 | A | A364 E396 W399 | III | Peptide ligand (PRO,VAL,LYS,LYS,PRO,LYS,ILE,ARG,ARG) | 4wv6 | A | Q181 N228 W231 N235 |
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| Conservation information for LBS of KPNA2 |
| Multiple alignments for P52292 in multiple species |
| LBS | AA sequence | # species | Species | A148 | ALTNIASGTSE | 2 | Homo sapiens, Mus musculus | A148 | ALTNIASGTSD | 1 | Drosophila melanogaster | A364 | MSNITAGRQDQ | 2 | Homo sapiens, Mus musculus | A364 | VSNITAGNQKQ | 1 | Drosophila melanogaster | D192 | GNIAGDGSVFR | 1 | Homo sapiens | D192 | GNIAGDGAAAR | 1 | Drosophila melanogaster | D192 | GNIAGDGSAFR | 1 | Mus musculus | E107 | KLLSREKQPPI | 2 | Homo sapiens, Mus musculus | E107 | KMLSRERNPPI | 1 | Drosophila melanogaster | E396 | FKTQKEAVWAV | 1 | Homo sapiens | E396 | FKAQKEAAWAV | 1 | Drosophila melanogaster | E396 | FKTQKEAAWAI | 1 | Mus musculus | G150 | TNIASGTSEQT | 2 | Homo sapiens, Mus musculus | G150 | TNIASGTSDQT | 1 | Drosophila melanogaster | G191 | LGNIAGDGSVF | 1 | Homo sapiens | G191 | LGNIAGDGAAA | 1 | Drosophila melanogaster | G191 | LGNIAGDGSAF | 1 | Mus musculus | G323 | GNIVTGTDEQT | 2 | Homo sapiens, Mus musculus | G323 | GNIVTGTDQQT | 1 | Drosophila melanogaster | K102 | TQAARKLLSRE | 2 | Homo sapiens, Mus musculus | K102 | MQSARKMLSRE | 1 | Drosophila melanogaster | N146 | AWALTNIASGT | 3 | Homo sapiens, Drosophila melanogaster, Mus musculus | N188 | VWALGNIAGDG | 3 | Homo sapiens, Drosophila melanogaster, Mus musculus | N228 | CGYLRNLTWTL | 2 | Homo sapiens, Mus musculus | N228 | LSFLRNIVWLM | 1 | Drosophila melanogaster | N235 | TWTLSNLCRNK | 2 | Homo sapiens, Mus musculus | N235 | VWLMSNLCRNK | 1 | Drosophila melanogaster | N361 | TWTMSNITAGR | 2 | Homo sapiens, Mus musculus | N361 | AWTVSNITAGN | 1 | Drosophila melanogaster | Q181 | AHISEQAVWAL | 2 | Homo sapiens, Mus musculus | Q181 | MNLAEQAVWAL | 1 | Drosophila melanogaster | R101 | ATQAARKLLSR | 2 | Homo sapiens, Mus musculus | R101 | GMQSARKMLSR | 1 | Drosophila melanogaster | R238 | LSNLCRNKNPA | 2 | Homo sapiens, Mus musculus | R238 | MSNLCRNKNPS | 1 | Drosophila melanogaster | S105 | ARKLLSREKQP | 2 | Homo sapiens, Mus musculus | S105 | ARKMLSRERNP | 1 | Drosophila melanogaster | S149 | LTNIASGTSEQ | 2 | Homo sapiens, Mus musculus | S149 | LTNIASGTSDQ | 1 | Drosophila melanogaster | T151 | NIASGTSEQTK | 2 | Homo sapiens, Mus musculus | T151 | NIASGTSDQTR | 1 | Drosophila melanogaster | T155 | GTSEQTKAVVD | 2 | Homo sapiens, Mus musculus | T155 | GTSDQTRCVIE | 1 | Drosophila melanogaster | T322 | IGNIVTGTDEQ | 2 | Homo sapiens, Mus musculus | T322 | VGNIVTGTDQQ | 1 | Drosophila melanogaster | T328 | GTDEQTQVVID | 1 | Homo sapiens | T328 | GTDQQTDVVIA | 1 | Drosophila melanogaster | T328 | GTDEQTQKVID | 1 | Mus musculus | V321 | AIGNIVTGTDE | 2 | Homo sapiens, Mus musculus | V321 | SVGNIVTGTDQ | 1 | Drosophila melanogaster | W142 | QFESAWALTNI | 2 | Homo sapiens, Mus musculus | W142 | QFEAAWALTNI | 1 | Drosophila melanogaster | W184 | SEQAVWALGNI | 2 | Homo sapiens, Mus musculus | W184 | AEQAVWALGNI | 1 | Drosophila melanogaster | W231 | LRNLTWTLSNL | 2 | Homo sapiens, Mus musculus | W231 | LRNIVWLMSNL | 1 | Drosophila melanogaster | W357 | QKEATWTMSNI | 2 | Homo sapiens, Mus musculus | W357 | VKEAAWTVSNI | 1 | Drosophila melanogaster | W399 | QKEAVWAVTNY | 1 | Homo sapiens | W399 | QKEAAWAVTNT | 1 | Drosophila melanogaster | W399 | QKEAAWAITNY | 1 | Mus musculus |
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