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 NFATC2

Gene summary

Basic gene Info.	Gene symbol	NFATC2
	Gene name	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
	Synonyms	NFAT1\|NFATP
	Cytomap	UCSC genome browser: 20q13.2
	Type of gene	protein-coding
	RefGenes	NM_001136021.2, NM_001258292.1,NM_001258294.1,NM_001258295.1,NM_001258296.1, NM_001258297.1,NM_012340.4,NM_173091.3,
	Description	NF-ATc2NFAT pre-existing subunitNFAT transcription complex, preexisting componentT cell transcription factor NFAT1T-cell transcription factor NFAT1nuclear factor of activated T-cells, cytoplasmic 2nuclear factor of activated T-cells, preexisting com
	Modification date	20141222
dbXrefs	MIM : 600490
	HGNC : HGNC
	Ensembl : ENSG00000101096
	HPRD : 02730
	Vega : OTTHUMG00000032747
Protein	UniProt: Q13469 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_NFATC2
	BioGPS: 4773
Pathway	NCI Pathway Interaction Database: NFATC2
	KEGG: NFATC2
	REACTOME: NFATC2
	Pathway Commons: NFATC2
Context	iHOP: NFATC2
	ligand binding site mutation search in PubMed: NFATC2
	UCL Cancer Institute: NFATC2
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:0016477	cell migration	21871017
GO:0045893	positive regulation of transcription, DNA-templated	15790681

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Ligand binding site mutations for NFATC2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
K664	K664N	BRCA	1
N523	D525N	COAD	1
I479	R478Q	COAD	1
K520	I518T	COAD	1
G663	G663W	LUAD	1
K520	I518T	OV	1
T540	T540A	STAD	1
K666	R667Q	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 NFATC2

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
K520	I518T	-1.2852234
K666	R667Q	-1.2040524
K664	K664N	-1.2028353
I479	R478Q	-1.0723922
T540	T540A	-1.012338
N523	D525N	-0.91675724
G663	G663W	-0.53045274

(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 NFATC2 from PDB

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Differential gene expression and gene-gene network for NFATC2

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 NFATC2 and the right PPI network was created from samples without mutations in the LBS of NFATC2. 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 NFATC2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0027765	Nervous System Diseases	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for NFATC2

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 NFATC2 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
NUC		Nucleic Acids	1pzu	I	G663 K664
NUC		Nucleic Acids	1p7h	L	G663 K664 K666
NUC		Nucleic Acids	1p7h	N	G663 K664 K666
NUC		Nucleic Acids	2o93	L	G663 K664 K666
NUC		Nucleic Acids	1owr	M	I479
NUC		Nucleic Acids	1owr	N	I479
NUC		Nucleic Acids	1owr	Q	I479
NUC		Nucleic Acids	1a02	N	K520 N523
NUC		Nucleic Acids	1owr	M	K520 N523
NUC		Nucleic Acids	1owr	N	K520 N523
NUC		Nucleic Acids	1owr	P	K520 N523
NUC		Nucleic Acids	1owr	Q	K520 N523
NUC		Nucleic Acids	1p7h	L	K520 N523
NUC		Nucleic Acids	1p7h	O	K520 N523
NUC		Nucleic Acids	1pzu	B	K520 N523
NUC		Nucleic Acids	1pzu	D	K520 N523
NUC		Nucleic Acids	1pzu	H	K520 N523
NUC		Nucleic Acids	1pzu	L	K520 N523
NUC		Nucleic Acids	1s9k	C	K520 N523
NUC		Nucleic Acids	2as5	N	K520 N523
NUC		Nucleic Acids	2as5	M	K520 N523
NUC		Nucleic Acids	2o93	L	K520 N523
NUC		Nucleic Acids	3qrf	N	K520 N523
NUC		Nucleic Acids	2o93	O	K520 N523 K666
NUC		Nucleic Acids	1p7h	M	K520 N523 T540
NUC		Nucleic Acids	1pzu	I	K520 N523 T540
NUC		Nucleic Acids	1pzu	M	K520 N523 T540
NUC		Nucleic Acids	2o93	M	K520 N523 T540
NUC		Nucleic Acids	1p7h	N	K520 N523 T540 K664
NUC		Nucleic Acids	1pzu	B	K664
NUC		Nucleic Acids	1pzu	M	K666

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Conservation information for LBS of NFATC2

Multiple alignments for Q13469 in multiple species

LBS

AA sequence

# species

Species