mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 ACAT2
Gene summary
Basic gene Info.Gene symbolACAT2
Gene nameacetyl-CoA acetyltransferase 2
CytomapUCSC genome browser: 6q25.3
Type of geneprotein-coding
Descriptionacetoacetyl Coenzyme A thiolaseacetyl-CoA acetyltransferase, cytosolicacetyl-CoA transferase-like proteincytosolic acetoacetyl-CoA thiolase
Modification date20141207
dbXrefs MIM : 100678
HPRD : 00006
ProteinUniProt: Q9BWD1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACAT2
BioGPS: 39
PathwayNCI Pathway Interaction Database: ACAT2
Pathway Commons: ACAT2
ContextiHOP: ACAT2
ligand binding site mutation search in PubMed: ACAT2
UCL Cancer Institute: ACAT2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for ACAT2

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 ACAT2
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 ACAT2 from PDB
PDB IDPDB titlePDB structure
1WL5Human cytosolic acetoacetyl-CoA thiolase

Differential gene expression and gene-gene network for ACAT2
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 ACAT2 and the right PPI network was created from samples without mutations in the LBS of ACAT2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ACAT2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for ACAT2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB01915S-HydroxycysteineSmall molecule
NutraceuticalDB01992Coenzyme ASmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACAT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
COACOENZYME A1wl4AM160 R223 M293

Conservation information for LBS of ACAT2
Multiple alignments for Q9BWD1 in multiple species
LBSAA sequence# speciesSpecies
A249GTVTPANASGM2Mus musculus, Rattus norvegicus
A249GTVTPANASGI1Homo sapiens
A323FEINEAFAAVS3Homo sapiens, Mus musculus, Rattus norvegicus
C92SCQMICGSGLK3Homo sapiens, Mus musculus, Rattus norvegicus
F324EINEAFAAVSA3Homo sapiens, Mus musculus, Rattus norvegicus
G253PANASGMNDGA2Mus musculus, Rattus norvegicus
G253PANASGINDGA1Homo sapiens
H159AFHNYHMGITA2Mus musculus, Rattus norvegicus
H159AFHNCHMGITA1Homo sapiens
H353AIALGHPLGAS3Homo sapiens, Mus musculus, Rattus norvegicus
L151ILCDGLTDAFH3Homo sapiens, Mus musculus, Rattus norvegicus
M160FHNYHMGITAE2Mus musculus, Rattus norvegicus
M160FHNCHMGITAE1Homo sapiens
M231SNIEAMSKLKP1Homo sapiens
M231SNLEAMGKLKP1Mus musculus
M231SNLEAMSKLKP1Rattus norvegicus
M293VEPSVMGVGPI2Mus musculus, Rattus norvegicus
M293VEPSIMGIGPI1Homo sapiens
P248TGTVTPANASG3Homo sapiens, Mus musculus, Rattus norvegicus
R223IDEFPRHGSNL2Mus musculus, Rattus norvegicus
R223TDEFPRHGSNI1Homo sapiens
S226FPRHGSNLEAM2Mus musculus, Rattus norvegicus
S226FPRHGSNIEAM1Homo sapiens
S252TPANASGMNDG2Mus musculus, Rattus norvegicus
S252TPANASGINDG1Homo sapiens
Y237SKLKPYFLTDG2Homo sapiens, Rattus norvegicus
Y237GKLKPYFLTDG1Mus musculus

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas