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 KLK2

Gene summary

Basic gene Info.	Gene symbol	KLK2
	Gene name	kallikrein-related peptidase 2
	Synonyms	KLK2A2\|hGK-1\|hK2
	Cytomap	UCSC genome browser: 19q13.41
	Type of gene	protein-coding
	RefGenes	NM_001002231.2, NM_001256080.1,NM_005551.4,NR_045762.1,NR_045763.1, NM_001002232.2,
	Description	glandular kallikrein 2glandular kallikrein-1kallikrein 2, prostatickallikrein-2tissue kallikrein-2
	Modification date	20141207
dbXrefs	MIM : 147960
	HGNC : HGNC
	Ensembl : ENSG00000167751
	HPRD : 01006
	Vega : OTTHUMG00000182963
Protein	UniProt: P20151 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_KLK2
	BioGPS: 3817
Pathway	NCI Pathway Interaction Database: KLK2
	KEGG: KLK2
	REACTOME: KLK2
	Pathway Commons: KLK2
Context	iHOP: KLK2
	ligand binding site mutation search in PubMed: KLK2
	UCL Cancer Institute: KLK2
Assigned class in mutLBSgeneDB	B: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID

GO Term

PubMed ID

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Ligand binding site mutations for KLK2

Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)

: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
A241	Y243H	BLCA	1
A241	P240L	BRCA	1
S213	S213Y	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 KLK2

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.

LBS	AAchange of nsSNV	Relative stability change
A241	Y243H	-0.67483061
A241	P240L	-0.31248954
S213	S213Y	-0.16956772

(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 KLK2 from PDB

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Differential gene expression and gene-gene network for KLK2

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 KLK2 and the right PPI network was created from samples without mutations in the LBS of KLK2. 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 KLK2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0033578	Prostatic Neoplasms	8	AlteredExpression, Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for KLK2

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.