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 ACAA2
Gene summary
Basic gene Info.Gene symbolACAA2
Gene nameacetyl-CoA acyltransferase 2
CytomapUCSC genome browser: 18q21.1
Type of geneprotein-coding
Description3-ketoacyl-CoA thiolase, mitochondrialT1acetyl-Coenzyme A acyltransferase 2beta ketothiolasebeta-ketothiolasemitochondrial 3-oxoacyl-CoA thiolasemitochondrial 3-oxoacyl-Coenzyme A thiolase
Modification date20141207
dbXrefs MIM : 604770
HPRD : 10380
ProteinUniProt: P42765
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACAA2
BioGPS: 10449
PathwayNCI Pathway Interaction Database: ACAA2
Pathway Commons: ACAA2
ContextiHOP: ACAA2
ligand binding site mutation search in PubMed: ACAA2
UCL Cancer Institute: ACAA2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0071456cellular response to hypoxia18371312
GO:1901029negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway18371312
GO:1902109negative regulation of mitochondrial membrane permeability involved in apoptotic process18371312

Ligand binding site mutations for ACAA2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for ACAA2
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
(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 ACAA2 from PDB

Differential gene expression and gene-gene network for ACAA2
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 ACAA2 and the right PPI network was created from samples without mutations in the LBS of ACAA2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ACAA2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for ACAA2
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 ACAA2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ACAA2
Multiple alignments for P42765 in multiple species
LBSAA sequence# speciesSpecies
A247DGTVTAGNASG2Homo sapiens, Mus musculus
A247EGTVTAGNASG2Rattus norvegicus, Bos taurus
A322VEVNEAFAPQY2Homo sapiens, Bos taurus
A322IDVNEAFAPQF2Mus musculus, Rattus norvegicus
C92TINRLCGSGFQ2Homo sapiens, Bos taurus
C92TLNRLCGSGFQ2Mus musculus, Rattus norvegicus
F323EVNEAFAPQYL2Homo sapiens, Bos taurus
F323DVNEAFAPQFL2Mus musculus, Rattus norvegicus
G248GTVTAGNASGV3Homo sapiens, Mus musculus, Bos taurus
G248GTVTAGNASGM1Rattus norvegicus
H352AIALGHPLGGS3Homo sapiens, Mus musculus, Rattus norvegicus
H352AIALGHPLAGS1Bos taurus
L152TLWAGLTDQHV2Mus musculus, Rattus norvegicus
L152SLWVSLTDQHV1Homo sapiens
L152TLWTGLTDTHV1Bos taurus
L235EQLQKLPPVFK1Homo sapiens
L235EQLQKLPSVFK1Mus musculus
L235EQLQNLPPVFK1Rattus norvegicus
L235EQLNKLPPVFK1Bos taurus
L354ALGHPLGGSGS3Homo sapiens, Mus musculus, Rattus norvegicus
L354ALGHPLAGSGS1Bos taurus
M161HVKLPMGMTAE2Mus musculus, Rattus norvegicus
M161HVQLPMAMTAE1Homo sapiens
M161HVQMPMAITAE1Bos taurus
M292CDPTIMGIGPV2Mus musculus, Bos taurus
M292CDPSIMGIGPV1Homo sapiens
M292CDPAIMGIGPV1Rattus norvegicus
R224VDEHARPQTTL3Homo sapiens, Mus musculus, Rattus norvegicus
R224VDEHPRPQTTM1Bos taurus
S251TAGNASGVSDG2Mus musculus, Bos taurus
S251TAGNASGVADG1Homo sapiens
S251TAGNASGMSDG1Rattus norvegicus
T227HARPQTTLEQL3Homo sapiens, Mus musculus, Rattus norvegicus
T227HPRPQTTMEQL1Bos taurus
W149LEDTLWAGLTD2Mus musculus, Rattus norvegicus
W149LEDSLWVSLTD1Homo sapiens
W149LEDTLWTGLTD1Bos taurus

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