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 FHL2
Gene summary
Basic gene Info.Gene symbolFHL2
Gene namefour and a half LIM domains 2
SynonymsAAG11|DRAL|FHL-2|SLIM-3|SLIM3
CytomapUCSC genome browser: 2q12.2
Type of geneprotein-coding
RefGenesNM_001039492.2,
NM_001450.3,NM_201555.1,NM_201557.3,NM_201556.1,
DescriptionLIM domain protein DRALaging-associated gene 11down-regulated in rhabdomyosarcoma LIM proteinfour and a half LIM domains protein 2skeletal muscle LIM-protein 3
Modification date20141207
dbXrefs MIM : 602633
HGNC : HGNC
Ensembl : ENSG00000115641
HPRD : 04026
Vega : OTTHUMG00000153120
ProteinUniProt: Q14192
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FHL2
BioGPS: 2274
PathwayNCI Pathway Interaction Database: FHL2
KEGG: FHL2
REACTOME: FHL2
Pathway Commons: FHL2
ContextiHOP: FHL2
ligand binding site mutation search in PubMed: FHL2
UCL Cancer Institute: FHL2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000122negative regulation of transcription from RNA polymerase II promoter15692560
GO:0043066negative regulation of apoptotic process15692560


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Ligand binding site mutations for FHL2
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
LBSAAchange of nsSNVCancer type# samples
C132R131SSTAD1
C10E12KUCEC1
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 FHL2
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
C132R131S-0.58492364
C10E12K-0.35625869
(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 FHL2 from PDB

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Differential gene expression and gene-gene network for FHL2
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 FHL2 and the right PPI network was created from samples without mutations in the LBS of FHL2. 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 FHL2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms2AlteredExpression, Biomarker
umls:C0023467Leukemia, Myeloid, Acute2Biomarker

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

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Pharmacological information for FHL2
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FHL2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2miuAC10


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Conservation information for LBS of FHL2
Multiple alignments for Q14192 in multiple species
LBSAA sequence# speciesSpecies
C10FDCHHCNESLY2Mus musculus, Rattus norvegicus
C10FDCHHCNESLF1Homo sapiens
C10FDCHHCEDSLF1Bos taurus
C101EYSSKCQECKK3Homo sapiens, Mus musculus, Rattus norvegicus
C101EYSSRCQECKK1Bos taurus
C104SKCQECKKTIM3Homo sapiens, Mus musculus, Rattus norvegicus
C104SRCQECKKSIM1Bos taurus
C126SWHETCFICHR2Homo sapiens, Bos taurus
C126SWHETCFTCQR2Mus musculus, Rattus norvegicus
C129ETCFICHRCQQ2Homo sapiens, Bos taurus
C129ETCFTCQRCQQ2Mus musculus, Rattus norvegicus
C132FICHRCQQPIG2Homo sapiens, Bos taurus
C132FTCQRCQQPIG2Mus musculus, Rattus norvegicus
C150ENQNFCVPCYE2Mus musculus, Rattus norvegicus
C150DNQNFCVPCYE1Homo sapiens
C150DSENFCVPCYE1Bos taurus
C153NFCVPCYEKQY2Mus musculus, Rattus norvegicus
C153NFCVPCYEKQH1Homo sapiens
C153NFCVPCYERQY1Bos taurus
C162QYALQCVQCKK3Bos taurus, Mus musculus, Rattus norvegicus
C162QHAMQCVQCKK1Homo sapiens
C165LQCVQCKKPIT3Bos taurus, Mus musculus, Rattus norvegicus
C165MQCVQCKKPIT1Homo sapiens
C185PWHKECFVCTA2Homo sapiens, Mus musculus
C185PWHRECFVCTA2Bos taurus, Rattus norvegicus
C188RECFVCTACKK2Bos taurus, Rattus norvegicus
C188KECFVCTACRK1Homo sapiens
C188KECFVCTACKK1Mus musculus
C191FVCTACKKQLS2Mus musculus, Rattus norvegicus
C191FVCTACRKQLS1Homo sapiens
C191FVCTACKKPLS1Bos taurus
C209DEFPYCLTCFC2Mus musculus, Rattus norvegicus
C209DDFAYCLNCFC1Homo sapiens
C209DEFAYCLGCFC1Bos taurus
C212PYCLTCFCDLY2Mus musculus, Rattus norvegicus
C212AYCLNCFCDLY1Homo sapiens
C212AYCLGCFCDLY1Bos taurus
C221LYAKKCAGCTN3Homo sapiens, Mus musculus, Rattus norvegicus
C221LYAKKCAGCAN1Bos taurus
C224KKCAGCTNPIS3Homo sapiens, Mus musculus, Rattus norvegicus
C224KKCAGCANPIS1Bos taurus
C248QWHNDCFNCKK4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C251NDCFNCKKCSL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C254FNCKKCSLSLV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C272RDDILCPDCGK4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C275ILCPDCGKDI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C28EENPHCVACFE2Mus musculus, Rattus norvegicus
C28EESPYCVVCFE1Homo sapiens
C28EEQPYCVACFE1Bos taurus
C31PHCVACFEELY2Mus musculus, Rattus norvegicus
C31PYCVVCFETLF1Homo sapiens
C31PYCVACFEALF1Bos taurus
C40LYANTCEECGT2Mus musculus, Rattus norvegicus
C40LFANTCEECGK1Homo sapiens
C40LFASTCEECGK1Bos taurus
C43NTCEECGTPIG2Mus musculus, Rattus norvegicus
C43NTCEECGKPIG1Homo sapiens
C43STCEECGKLIG1Bos taurus
C65HWHEGCFHCSR2Mus musculus, Rattus norvegicus
C65HWHEACFHCSQ1Homo sapiens
C65HWHEACFHCSR1Bos taurus
C7TERFDCHHCNE3Homo sapiens, Mus musculus, Rattus norvegicus
C7TERFDCHHCED1Bos taurus
H123KGSSWHETCFI2Homo sapiens, Bos taurus
H123KGSSWHETCFT2Mus musculus, Rattus norvegicus
H182REQPWHKECFV2Homo sapiens, Mus musculus
H182REQPWHRECFV1Bos taurus
H182RDQPWHRECFV1Rattus norvegicus
H245EERQWHNDCFN4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H62KDRHWHEACFH2Homo sapiens, Bos taurus
H62KDRHWHEGCFH2Mus musculus, Rattus norvegicus


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