mutLBSgeneDB

mutLBSgeneDB
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 CAMK2A
Gene summary
Basic gene Info.Gene symbolCAMK2A
Gene namecalcium/calmodulin-dependent protein kinase II alpha
SynonymsCAMKA
CytomapUCSC genome browser: 5q32
Type of geneprotein-coding
RefGenesNM_015981.3,
NM_171825.2,
DescriptionCaM kinase II alpha subunitCaM-kinase II alpha chainCaMK-II alpha subunitCaMKIINalphacaM kinase II subunit alphacaMK-II subunit alphacalcium/calmodulin-dependent protein kinase (CaM kinase) II alphacalcium/calmodulin-dependent protein kinase II alp
Modification date20141207
dbXrefs MIM : 114078
HGNC : HGNC
Ensembl : ENSG00000070808
HPRD : 06532
Vega : OTTHUMG00000134281
ProteinUniProt: Q9UQM7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CAMK2A
BioGPS: 815
PathwayNCI Pathway Interaction Database: CAMK2A
KEGG: CAMK2A
REACTOME: CAMK2A
Pathway Commons: CAMK2A
ContextiHOP: CAMK2A
ligand binding site mutation search in PubMed: CAMK2A
UCL Cancer Institute: CAMK2A
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006468protein phosphorylation17052756


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Ligand binding site mutations for CAMK2A

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D90D90NBRCA1
V27S25LCOAD1
G20G22VSKCM1
L19E17KUCEC1
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 CAMK2A
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
G20G22V0.045975988
D90D90N-1.4518402
L19E17K-0.58478735
V27S25L-0.003823637
(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 CAMK2A from PDB

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Differential gene expression and gene-gene network for CAMK2A
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 CAMK2A and the right PPI network was created from samples without mutations in the LBS of CAMK2A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CAMK2A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0236736Cocaine-Related Disorders1Biomarker
umls:C0020429Hyperalgesia1Biomarker

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

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Pharmacological information for CAMK2A
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB04119Hexatantalum DodecabromideSmall molecule
ExperimentalDB044471,4-DithiothreitolSmall molecule
ExperimentalDB07766(2Z,3E)-2,3'-BIINDOLE-2',3(1H,1'H)-DIONE 3-{O-[(3R)-3,4-DIHYDROXYBUTYL]OXIME}Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CAMK2A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FEFINDIRUBIN DERIVATIVE E8042vz6AL19 G20 D90
FEFINDIRUBIN DERIVATIVE E8042vz6BL19 G20 D90
DB8BOSUTINIB3soaAL19 V27


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Conservation information for LBS of CAMK2A
Multiple alignments for Q9UQM7 in multiple species
LBSAA sequence# speciesSpecies


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