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mutLBSgeneDB |
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| Gene summary for ACAA2 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACAA2 |
| Gene name | acetyl-CoA acyltransferase 2 | |
| Synonyms | DSAEC | |
| Cytomap | UCSC genome browser: 18q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006111.2, | |
| Description | 3-ketoacyl-CoA thiolase, mitochondrialT1acetyl-Coenzyme A acyltransferase 2beta ketothiolasebeta-ketothiolasemitochondrial 3-oxoacyl-CoA thiolasemitochondrial 3-oxoacyl-Coenzyme A thiolase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604770 | |
| HGNC : HGNC | ||
| HPRD : 10380 | ||
| Protein | UniProt: P42765 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACAA2 | |
| BioGPS: 10449 | ||
| Pathway | NCI Pathway Interaction Database: ACAA2 | |
| KEGG: ACAA2 | ||
| REACTOME: ACAA2 | ||
| Pathway Commons: ACAA2 | ||
| Context | iHOP: ACAA2 | |
| ligand binding site mutation search in PubMed: ACAA2 | ||
| UCL Cancer Institute: ACAA2 | ||
| 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 | GO:0071456 | cellular response to hypoxia | 18371312 | GO:1901029 | negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway | 18371312 | GO:1902109 | negative regulation of mitochondrial membrane permeability involved in apoptotic process | 18371312 |
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| Ligand binding site mutations for ACAA2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L152 | S151L | BLCA | 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 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 |
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| 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 | L152 | S151L | -0.48180415 |
| (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 |
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| 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) |
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| Phenotype information for ACAA2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACAA2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | COA | COENZYME A | 4c2j | B | L152 | COA | COENZYME A | 4c2j | D | L152 |
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| Conservation information for LBS of ACAA2 |
| Multiple alignments for P42765 in multiple species |
| LBS | AA sequence | # species | Species | A247 | DGTVTAGNASG | 2 | Homo sapiens, Mus musculus | A247 | EGTVTAGNASG | 2 | Rattus norvegicus, Bos taurus | A322 | VEVNEAFAPQY | 2 | Homo sapiens, Bos taurus | A322 | IDVNEAFAPQF | 2 | Mus musculus, Rattus norvegicus | C92 | TINRLCGSGFQ | 2 | Homo sapiens, Bos taurus | C92 | TLNRLCGSGFQ | 2 | Mus musculus, Rattus norvegicus | F323 | EVNEAFAPQYL | 2 | Homo sapiens, Bos taurus | F323 | DVNEAFAPQFL | 2 | Mus musculus, Rattus norvegicus | G248 | GTVTAGNASGV | 3 | Homo sapiens, Mus musculus, Bos taurus | G248 | GTVTAGNASGM | 1 | Rattus norvegicus | H352 | AIALGHPLGGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H352 | AIALGHPLAGS | 1 | Bos taurus | L152 | TLWAGLTDQHV | 2 | Mus musculus, Rattus norvegicus | L152 | SLWVSLTDQHV | 1 | Homo sapiens | L152 | TLWTGLTDTHV | 1 | Bos taurus | L235 | EQLQKLPPVFK | 1 | Homo sapiens | L235 | EQLQKLPSVFK | 1 | Mus musculus | L235 | EQLQNLPPVFK | 1 | Rattus norvegicus | L235 | EQLNKLPPVFK | 1 | Bos taurus | L354 | ALGHPLGGSGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L354 | ALGHPLAGSGS | 1 | Bos taurus | M161 | HVKLPMGMTAE | 2 | Mus musculus, Rattus norvegicus | M161 | HVQLPMAMTAE | 1 | Homo sapiens | M161 | HVQMPMAITAE | 1 | Bos taurus | M292 | CDPTIMGIGPV | 2 | Mus musculus, Bos taurus | M292 | CDPSIMGIGPV | 1 | Homo sapiens | M292 | CDPAIMGIGPV | 1 | Rattus norvegicus | R224 | VDEHARPQTTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R224 | VDEHPRPQTTM | 1 | Bos taurus | S251 | TAGNASGVSDG | 2 | Mus musculus, Bos taurus | S251 | TAGNASGVADG | 1 | Homo sapiens | S251 | TAGNASGMSDG | 1 | Rattus norvegicus | T227 | HARPQTTLEQL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T227 | HPRPQTTMEQL | 1 | Bos taurus | W149 | LEDTLWAGLTD | 2 | Mus musculus, Rattus norvegicus | W149 | LEDSLWVSLTD | 1 | Homo sapiens | W149 | LEDTLWTGLTD | 1 | Bos taurus |
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