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 CAMKK2

Gene summary

Basic gene Info.	Gene symbol	CAMKK2
	Gene name	calcium/calmodulin-dependent protein kinase kinase 2, beta
	Synonyms	CAMKK\|CAMKKB
	Cytomap	UCSC genome browser: 12q24.2
	Type of gene	protein-coding
	RefGenes	NM_001270485.1, NM_001270486.1,NM_006549.3,NM_153499.2,NM_153500.1, NM_172214.2,NM_172215.2,NM_172216.1,NM_172226.2,
	Description	CAMKK beta proteincaM-KK 2caM-KK betacaM-kinase kinase 2caM-kinase kinase betacalcium/calmodulin-dependent protein kinase betacalcium/calmodulin-dependent protein kinase kinase 2
	Modification date	20141207
dbXrefs	MIM : 615002
	HGNC : HGNC
	Ensembl : ENSG00000110931
	HPRD : 06467
	Vega : OTTHUMG00000169156
Protein	UniProt: Q96RR4 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CAMKK2
	BioGPS: 10645
Pathway	NCI Pathway Interaction Database: CAMKK2
	KEGG: CAMKK2
	REACTOME: CAMKK2
	Pathway Commons: CAMKK2
Context	iHOP: CAMKK2
	ligand binding site mutation search in PubMed: CAMKK2
	UCL Cancer Institute: CAMKK2
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
GO:0006468	protein phosphorylation	11395482
GO:0046777	protein autophosphorylation	11395482

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Ligand binding site mutations for CAMKK2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E268	E268K	COAD	1
P274	V275M	UCEC	1
D330	A329T	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 CAMKK2

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
E268	E268K	-1.1969738
D330	A329T	-1.0989612
P274	V275M	-0.92033719

(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 CAMKK2 from PDB

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Differential gene expression and gene-gene network for CAMKK2

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 CAMKK2 and the right PPI network was created from samples without mutations in the LBS of CAMKK2. 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 CAMKK2

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for CAMKK2

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 status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CAMKK2 go to BioLip

Ligand ID

Ligand short name

Ligand long name

PDB ID

PDB name

mutLBS

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Conservation information for LBS of CAMKK2

Multiple alignments for Q96RR4 in multiple species

LBS	AA sequence	# species	Species
A192	DNTYYAMKVLS	3	Homo sapiens, Mus musculus, Rattus norvegicus
A192	DKNLYALKVLD	1	Caenorhabditis elegans
D330	HIKIADFGVSN	3	Homo sapiens, Mus musculus, Rattus norvegicus
D330	QVKIADFGVSC	1	Caenorhabditis elegans
E268	LYMVFELVNQG	3	Homo sapiens, Mus musculus, Rattus norvegicus
E268	LYMVFEFVEKG	1	Caenorhabditis elegans
F267	HLYMVFELVNQ	3	Homo sapiens, Mus musculus, Rattus norvegicus
F267	YLYMVFEFVEK	1	Caenorhabditis elegans
G273	ELVNQGPVMEV	3	Homo sapiens, Mus musculus, Rattus norvegicus
G273	EFVEKGSILEI	1	Caenorhabditis elegans
K194	TYYAMKVLSKK	3	Homo sapiens, Mus musculus, Rattus norvegicus
K194	NLYALKVLDKM	1	Caenorhabditis elegans
L269	YMVFELVNQGP	3	Homo sapiens, Mus musculus, Rattus norvegicus
L269	YMVFEFVEKGS	1	Caenorhabditis elegans
L319	KPSNLLVGEDG	3	Homo sapiens, Mus musculus, Rattus norvegicus
L319	KPSNLLLSDIG	1	Caenorhabditis elegans
N271	VFELVNQGPVM	3	Homo sapiens, Mus musculus, Rattus norvegicus
N271	VFEFVEKGSIL	1	Caenorhabditis elegans
P274	LVNQGPVMEVP	3	Homo sapiens, Mus musculus, Rattus norvegicus
P274	FVEKGSILEIP	1	Caenorhabditis elegans
V179	GSYGVVKLAYN	3	Homo sapiens, Mus musculus, Rattus norvegicus
V179	GSYGIVKLAYN	1	Caenorhabditis elegans
V249	DHPNVVKLVEV	3	Homo sapiens, Mus musculus, Rattus norvegicus
V249	SHPNVVKLVEV	1	Caenorhabditis elegans
V270	MVFELVNQGPV	3	Homo sapiens, Mus musculus, Rattus norvegicus
V270	MVFEFVEKGSI	1	Caenorhabditis elegans