mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for KPNA2
Gene summary
Basic gene Info.Gene symbolKPNA2
Gene namekaryopherin alpha 2 (RAG cohort 1, importin alpha 1)
CytomapUCSC genome browser: 17q24.2
Type of geneprotein-coding
DescriptionRAG cohort 1RAG cohort protein 1SRP1-alphaimportin alpha 1importin alpha 2importin subunit alpha-1importin subunit alpha-2importin-alpha-P1karyopherin subunit alpha-2pendulin
Modification date20141207
dbXrefs MIM : 600685
Ensembl : ENSG00000182481
HPRD : 02818
Vega : OTTHUMG00000179784
ProteinUniProt: P52292
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_KPNA2
BioGPS: 3838
PathwayNCI Pathway Interaction Database: KPNA2
Pathway Commons: KPNA2
ContextiHOP: KPNA2
ligand binding site mutation search in PubMed: KPNA2
UCL Cancer Institute: KPNA2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006607NLS-bearing protein import into nucleus17324944

Ligand binding site mutations for KPNA2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of KPNA2 and the right PPI network was created from samples without mutations in the LBS of KPNA2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for KPNA2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of KPNA2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (LYS,LYS,SER)4wv6AA364 E396 W399
IIIPeptide ligand (PRO,VAL,LYS,LYS,PRO,LYS,ILE,ARG,ARG)4wv6AQ181 N228 W231 N235

Conservation information for LBS of KPNA2
Multiple alignments for P52292 in multiple species
LBSAA sequence# speciesSpecies
A148ALTNIASGTSE2Homo sapiens, Mus musculus
A148ALTNIASGTSD1Drosophila melanogaster
A364MSNITAGRQDQ2Homo sapiens, Mus musculus
A364VSNITAGNQKQ1Drosophila melanogaster
D192GNIAGDGSVFR1Homo sapiens
D192GNIAGDGAAAR1Drosophila melanogaster
D192GNIAGDGSAFR1Mus musculus
E107KLLSREKQPPI2Homo sapiens, Mus musculus
E107KMLSRERNPPI1Drosophila melanogaster
E396FKTQKEAVWAV1Homo sapiens
E396FKAQKEAAWAV1Drosophila melanogaster
E396FKTQKEAAWAI1Mus musculus
G150TNIASGTSEQT2Homo sapiens, Mus musculus
G150TNIASGTSDQT1Drosophila melanogaster
G191LGNIAGDGSVF1Homo sapiens
G191LGNIAGDGAAA1Drosophila melanogaster
G191LGNIAGDGSAF1Mus musculus
G323GNIVTGTDEQT2Homo sapiens, Mus musculus
G323GNIVTGTDQQT1Drosophila melanogaster
K102TQAARKLLSRE2Homo sapiens, Mus musculus
K102MQSARKMLSRE1Drosophila melanogaster
N146AWALTNIASGT3Homo sapiens, Drosophila melanogaster, Mus musculus
N188VWALGNIAGDG3Homo sapiens, Drosophila melanogaster, Mus musculus
N228CGYLRNLTWTL2Homo sapiens, Mus musculus
N228LSFLRNIVWLM1Drosophila melanogaster
N235TWTLSNLCRNK2Homo sapiens, Mus musculus
N235VWLMSNLCRNK1Drosophila melanogaster
N361TWTMSNITAGR2Homo sapiens, Mus musculus
N361AWTVSNITAGN1Drosophila melanogaster
Q181AHISEQAVWAL2Homo sapiens, Mus musculus
Q181MNLAEQAVWAL1Drosophila melanogaster
R101ATQAARKLLSR2Homo sapiens, Mus musculus
R101GMQSARKMLSR1Drosophila melanogaster
R238LSNLCRNKNPA2Homo sapiens, Mus musculus
R238MSNLCRNKNPS1Drosophila melanogaster
S105ARKLLSREKQP2Homo sapiens, Mus musculus
S105ARKMLSRERNP1Drosophila melanogaster
S149LTNIASGTSEQ2Homo sapiens, Mus musculus
S149LTNIASGTSDQ1Drosophila melanogaster
T151NIASGTSEQTK2Homo sapiens, Mus musculus
T151NIASGTSDQTR1Drosophila melanogaster
T155GTSEQTKAVVD2Homo sapiens, Mus musculus
T155GTSDQTRCVIE1Drosophila melanogaster
T322IGNIVTGTDEQ2Homo sapiens, Mus musculus
T322VGNIVTGTDQQ1Drosophila melanogaster
T328GTDEQTQVVID1Homo sapiens
T328GTDQQTDVVIA1Drosophila melanogaster
T328GTDEQTQKVID1Mus musculus
V321AIGNIVTGTDE2Homo sapiens, Mus musculus
V321SVGNIVTGTDQ1Drosophila melanogaster
W142QFESAWALTNI2Homo sapiens, Mus musculus
W142QFEAAWALTNI1Drosophila melanogaster
W184SEQAVWALGNI2Homo sapiens, Mus musculus
W184AEQAVWALGNI1Drosophila melanogaster
W231LRNLTWTLSNL2Homo sapiens, Mus musculus
W231LRNIVWLMSNL1Drosophila melanogaster
W357QKEATWTMSNI2Homo sapiens, Mus musculus
W357VKEAAWTVSNI1Drosophila melanogaster
W399QKEAVWAVTNY1Homo sapiens
W399QKEAAWAVTNT1Drosophila melanogaster
W399QKEAAWAITNY1Mus musculus

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