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mutLBSgeneDB |
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| Gene summary for ACSM2A |
 Gene summary |
| Basic gene Info. | Gene symbol | ACSM2A |
| Gene name | acyl-CoA synthetase medium-chain family member 2A | |
| Synonyms | A-923A4.1|ACSM2 | |
| Cytomap | UCSC genome browser: 16p12.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001010845.2, | |
| Description | Homolog of rat kidney-specific (KS)acyl-CoA synthetase medium-chain family member 2acyl-coenzyme A synthetase ACSM2A, mitochondrialbutyrate--CoA ligase 2Abutyryl-coenzyme A synthetase 2Amiddle-chain acyl-CoA synthetase 2A | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 614358 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000183747 | ||
| HPRD : 17292 | ||
| Vega : OTTHUMG00000177401 | ||
| Protein | UniProt: Q08AH3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACSM2A | |
| BioGPS: 123876 | ||
| Pathway | NCI Pathway Interaction Database: ACSM2A | |
| KEGG: ACSM2A | ||
| REACTOME: ACSM2A | ||
| Pathway Commons: ACSM2A | ||
| Context | iHOP: ACSM2A | |
| ligand binding site mutation search in PubMed: ACSM2A | ||
| UCL Cancer Institute: ACSM2A | ||
| 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:0036112 | medium-chain fatty-acyl-CoA metabolic process | 19345228 |
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| Ligand binding site mutations for ACSM2A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R472 | R472Q | COAD | 2 | V488 | E490V | GBM | 1 | E359 | R358Q | HNSC | 1 | G367 | T366M | HNSC | 1 | L270 | C271Y | LUAD | 1 | I313,M317 | Y315S | LUAD | 1 | A311 | M309I | LUAD | 1 | E359 | E359K | LUAD | 1 | S225 | S225I | LUSC | 1 | Q139 | Q139K | LUSC | 1 | D446 | D446N | SKCM | 1 | P537 | A536T | SKCM | 1 | Q139 | M140I | SKCM | 1 | A311 | G310S | SKCM | 1 | D446 | G448E | SKCM | 1 | M483 | M483I | SKCM | 1 | Q559 | R560Q | SKCM | 1 | Q559 | A561D | STAD | 1 | D446 | R447P | STAD | 1 | R542 | R542G | STAD | 1 | K557,Q559 | I558L | STAD | 1 | V337 | T336N | UCEC | 1 | P486,V488 | A487D | UCEC | 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 ACSM2A |
| 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 | S225 | S225I | 1.0374078 | Q559 | I558L | 0.0429637 | K557 | I558L | 0.0429637 | D446 | D446N | -1.5804138 | R542 | R542G | -1.4039276 | Q139 | Q139K | -1.1975235 | Q559 | R560Q | -1.1949266 | E359 | R358Q | -1.175424 | Q139 | M140I | -1.1501357 | V488 | A487D | -1.0224664 | P486 | A487D | -1.0224664 | V337 | T336N | -0.9805071 | D446 | G448E | -0.77678854 | R472 | R472Q | -0.7702897 | M317 | Y315S | -0.75736113 | I313 | Y315S | -0.75736113 | A311 | M309I | -0.73598545 | E359 | E359K | -0.6802912 | A311 | G310S | -0.66467278 | G367 | T366M | -0.56566276 | P537 | A536T | -0.46785447 | L270 | C271Y | -0.41536389 | D446 | R447P | -0.37244623 | M483 | M483I | -0.30688468 | Q559 | A561D | -0.28905043 | V488 | E490V | -0.23414584 |
| (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 ACSM2A from PDB |
| PDB ID | PDB title | PDB structure | 2VZE | CRYSTAL STRUCTURE OF HUMAN ACYL-COA SYNTHETASE MEDIUM-CHAIN FAMILY MEMBER 2A (L64P MUTATION) IN COMPLEX WITH AMP |  |
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| Differential gene expression and gene-gene network for ACSM2A |
| 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 ACSM2A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACSM2A |
| 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 ACSM2A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | COA | COENZYME A | 3gpc | A | E359 D446 K557 Q559 | AMP | AMP | 2vze | A | E359 D446 R472 | AMP | AMP | 2vze | B | E359 D446 R472 | AMP | AMP | 2vze | C | E359 D446 R472 | AMP | AMP | 3eq6 | A | E359 D446 R472 | AMP | AMP | 3eq6 | B | E359 D446 R472 | UNX | UNKNOWN ATOM OR LIGAND | 3day | A | G367 | UNX | UNKNOWN ATOM OR LIGAND | 3day | A | L270 G367 | MG | MAGNESIUM(2+) | 3b7w | A | M483 P486 V488 | MG | MAGNESIUM(2+) | 3day | A | M483 P486 V488 | MG | MAGNESIUM(2+) | 2vze | C | M483 V488 | MG | MAGNESIUM(2+) | 2wd9 | B | M483 V488 | MG | MAGNESIUM(2+) | 2wd9 | C | M483 V488 | MG | MAGNESIUM(2+) | 3c5e | A | M483 V488 | MG | MAGNESIUM(2+) | 3gpc | A | M483 V488 | MG | MAGNESIUM(2+) | 3gpc | B | M483 V488 | BCO | BUTYRYL COENZYME A | 3eq6 | A | Q139 A311 I313 M317 V337 G367 P537 R542 | BCO | BUTYRYL COENZYME A | 3eq6 | B | Q139 A311 I313 M317 V337 G367 P537 R542 | ATP | ATP | 3c5e | A | S225 E359 D446 K557 | APC | ALPHA,BETA-METHYLENE ATP | 3day | A | S225 E359 D446 K557 | UNX | UNKNOWN ATOM OR LIGAND | 3day | A | V337 | COA | COENZYME A | 3gpc | B | V337 E359 D446 K557 | IBP | IBUPROFEN | 2wd9 | A | V337 R472 | IBP | IBUPROFEN | 2wd9 | B | V337 R472 | IBP | IBUPROFEN | 2wd9 | C | V337 R472 |
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| Conservation information for LBS of ACSM2A |
| Multiple alignments for Q08AH3 in multiple species |
| LBS | AA sequence | # species | Species |
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