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 ZSWIM2

Gene summary

Basic gene Info.	Gene symbol	ZSWIM2
	Gene name	zinc finger, SWIM-type containing 2
	Synonyms	MEX\|ZZZ2
	Cytomap	UCSC genome browser: 2q32.1
	Type of gene	protein-coding
	RefGenes	NM_182521.2,
	Description	E3 ubiquitin-protein ligase ZSWIM2MEKK1-related protein XZZ-type zinc finger-containing protein 2zinc finger SWIM domain-containing protein 2zinc finger, SWIM domain containing 2
	Modification date	20141207
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000163012
	HPRD : 15902
	Vega : OTTHUMG00000154259
Protein	UniProt: Q8NEG5 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ZSWIM2
	BioGPS: 151112
Pathway	NCI Pathway Interaction Database: ZSWIM2
	KEGG: ZSWIM2
	REACTOME: ZSWIM2
	Pathway Commons: ZSWIM2
Context	iHOP: ZSWIM2
	ligand binding site mutation search in PubMed: ZSWIM2
	UCL Cancer Institute: ZSWIM2
Assigned class in mutLBSgeneDB	C: This gene just belongs to 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 ZSWIM2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
C234	I232T	KIRC	1
C249	Y247H	LUAD	1
C249	T250S	LUAD	1
C234	P233L	SKCM	1
H267	H267Y	SKCM	1
H267	L268R	STAD	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 ZSWIM2

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
C234	I232T	-1.9075272
C249	Y247H	-1.6586474
C249	T250S	-1.1600895
H267	L268R	-1.03431
C234	P233L	-0.62694137
H267	H267Y	-0.12558083

(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 ZSWIM2 from PDB

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Differential gene expression and gene-gene network for ZSWIM2

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 ZSWIM2 and the right PPI network was created from samples without mutations in the LBS of ZSWIM2. 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 ZSWIM2

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