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 ACTN2
Gene summary
Basic gene Info.Gene symbolACTN2
Gene nameactinin, alpha 2
SynonymsCMD1AA
CytomapUCSC genome browser: 1q42-q43
Type of geneprotein-coding
RefGenesNM_001103.3,
NM_001278343.1,NM_001278344.1,
DescriptionF-actin cross-linking proteinalpha-actinin skeletal musclealpha-actinin-2
Modification date20141219
dbXrefs MIM : 102573
HGNC : HGNC
Ensembl : ENSG00000077522
HPRD : 00019
Vega : OTTHUMG00000040059
ProteinUniProt: P35609
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACTN2
BioGPS: 88
PathwayNCI Pathway Interaction Database: ACTN2
KEGG: ACTN2
REACTOME: ACTN2
Pathway Commons: ACTN2
ContextiHOP: ACTN2
ligand binding site mutation search in PubMed: ACTN2
UCL Cancer Institute: ACTN2
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:0030035microspike assembly12356918
GO:0043268positive regulation of potassium ion transport17110593
GO:0051289protein homotetramerization9501083
GO:1901018positive regulation of potassium ion transmembrane transporter activity17110593


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Ligand binding site mutations for ACTN2
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
L888A887EBRCA1
E853R852QBRCA1
E853R851HCOAD1
E448S449RLUAD1
S834A833SLUAD1
F835F835SLUAD1
E853R852WLUAD1
L888G890VLUSC1
L888G890WSTAD1
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 ACTN2
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
E448S449R0.037941309
S834A833S-1.1645571
E853R851H-0.86620142
E853R852Q-0.36134982
L888A887E-0.34663465
F835F835S-0.32846037
E853R852W-0.084319331
L888G890W-0.054047515
L888G890V-0.047601584
(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 ACTN2 from PDB

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Differential gene expression and gene-gene network for ACTN2
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 ACTN2 and the right PPI network was created from samples without mutations in the LBS of ACTN2. 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 ACTN2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0878544Cardiomyopathies1GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
172538R852QUncertain significanceGermlineMedGen:CN169374
189402R851HUncertain significanceUnknownMedGen:CN221809

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Pharmacological information for ACTN2
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 ACTN2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ACTN2
Multiple alignments for P35609 in multiple species
LBSAA sequence# speciesSpecies
C862DQAQYCIKRMP3Homo sapiens, Bos taurus, Mus musculus
C862EQAQYCIKRMP1Gallus gallus
D857RELPPDQAQYC3Homo sapiens, Bos taurus, Mus musculus
D857RELPPEQAQYC1Gallus gallus
E448KHEAFESDLAA4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
E853EELRRELPPDQ3Homo sapiens, Bos taurus, Mus musculus
E853DELRRELPPEQ1Gallus gallus
F835QVIASFRILAS4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
I837IASFRILASDK4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
L838ASFRILASDKP4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
L854ELRRELPPDQA3Homo sapiens, Bos taurus, Mus musculus
L854ELRRELPPEQA1Gallus gallus
L888AFSSALYGESD3Homo sapiens, Bos taurus, Mus musculus
L888SFSSALYGESD1Gallus gallus
P855LRRELPPDQAQ3Homo sapiens, Bos taurus, Mus musculus
P855LRRELPPEQAQ1Gallus gallus
Q830TDTAEQVIASF4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
Q858ELPPDQAQYCI3Homo sapiens, Bos taurus, Mus musculus
Q858ELPPEQAQYCI1Gallus gallus
R865QYCIKRMPAYS2Homo sapiens, Bos taurus
R865QYCIKRMPQYT1Gallus gallus
R865QYCIKRMPPYS1Mus musculus
S834EQVIASFRILA4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
Y861PDQAQYCIKRM3Homo sapiens, Bos taurus, Mus musculus
Y861PEQAQYCIKRM1Gallus gallus


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