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mutLBSgeneDB |
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| Gene summary for ACACB |
 Gene summary |
| Basic gene Info. | Gene symbol | ACACB |
| Gene name | acetyl-CoA carboxylase beta | |
| Synonyms | ACC2|ACCB|HACC275 | |
| Cytomap | UCSC genome browser: 12q24.11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001093.3, | |
| Description | ACC-betaacetyl-CoA carboxylase 2acetyl-Coenzyme A carboxylase beta | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601557 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000076555 | ||
| HPRD : 07044 | ||
| Vega : OTTHUMG00000169250 | ||
| Protein | UniProt: O00763 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACACB | |
| BioGPS: 32 | ||
| Pathway | NCI Pathway Interaction Database: ACACB | |
| KEGG: ACACB | ||
| REACTOME: ACACB | ||
| Pathway Commons: ACACB | ||
| Context | iHOP: ACACB | |
| ligand binding site mutation search in PubMed: ACACB | ||
| UCL Cancer Institute: ACACB | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006084 | acetyl-CoA metabolic process | 20952656 | GO:0051289 | protein homotetramerization | 20952656 |
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| Ligand binding site mutations for ACACB |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F704 | F704L | BLCA | 1 | P590 | H589N | BRCA | 1 | S2161 | S2161F | COAD | 1 | R277 | R277H | COAD | 1 | A2125 | G2126E | LUSC | 1 | V598 | V598I | 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 ACACB |
| 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 | S2161 | S2161F | 0.13703425 | V598 | V598I | 0.10410958 | P590 | H589N | -1.6245907 | R277 | R277H | -1.0016711 | A2125 | G2126E | -0.69152835 | F704 | F704L | -0.56450176 |
| (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 ACACB from PDB |
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| Differential gene expression and gene-gene network for ACACB |
| 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 ACACB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028754 | Obesity | 5 | Biomarker |
| umls:C0021655 | Insulin Resistance | 3 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACACB |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00121 | Biotin | Small molecule |  |
| Approved|nutraceutical | DB00173 | Adenine | Small molecule |  |
| Experimental | DB02859 | Soraphen A | Small molecule |  |
| Experimental | DB03781 | 2-[4-(2,4-Dichlorophenoxy)Phenoxy]Propanoic Acid | Small molecule |  |
| Experimental | DB07870 | (2S)-2-(4-{[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]OXY}PHENOXY)PROPANOIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACACB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | RCP | (3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE | 3ff6 | B | A2125 | S1A | SORAPHEN A | 3gid | A | R277 P590 V598 F704 | S1A | SORAPHEN A | 3gid | B | R277 P590 V598 F704 | S1A | SORAPHEN A | 3jrx | A | R277 P590 V598 F704 | RCP | (3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE | 3ff6 | A | S2161 | RCP | (3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE | 3ff6 | C | S2161 | RCP | (3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE | 3ff6 | D | S2161 |
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| Conservation information for LBS of ACACB |
| Multiple alignments for O00763 in multiple species |
| LBS | AA sequence | # species | Species |
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