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mutLBSgeneDB |
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| Gene summary for ALDH1A2 |
 Gene summary |
| Basic gene Info. | Gene symbol | ALDH1A2 |
| Gene name | aldehyde dehydrogenase 1 family, member A2 | |
| Synonyms | RALDH(II)|RALDH2|RALDH2-T | |
| Cytomap | UCSC genome browser: 15q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001206897.1, NM_003888.3,NM_170696.2,NM_170697.2, | |
| Description | RALDH 2retinal dehydrogenase 2retinaldehyde-specific dehydrogenase type 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603687 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000128918 | ||
| HPRD : 04733 | ||
| Vega : OTTHUMG00000132624 | ||
| Protein | UniProt: O94788 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALDH1A2 | |
| BioGPS: 8854 | ||
| Pathway | NCI Pathway Interaction Database: ALDH1A2 | |
| KEGG: ALDH1A2 | ||
| REACTOME: ALDH1A2 | ||
| Pathway Commons: ALDH1A2 | ||
| Context | iHOP: ALDH1A2 | |
| ligand binding site mutation search in PubMed: ALDH1A2 | ||
| UCL Cancer Institute: ALDH1A2 | ||
| 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:0008285 | negative regulation of cell proliferation | 16166285 | GO:0034097 | response to cytokine | 18495959 |
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| Ligand binding site mutations for ALDH1A2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G243 | G243W | LUAD | 1 | E213 | E213Q | LUSC | 1 | W186 | W186C | SKCM | 1 | P244 | T245K | STAD | 1 | I183 | I183F | STAD | 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 ALDH1A2 |
| 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 | E213 | E213Q | -1.2755374 | I183 | I183F | -1.1152787 | W186 | W186C | -1.0693404 | P244 | T245K | -0.12552232 | G243 | G243W | -0.037459605 |
| (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 ALDH1A2 from PDB |
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| Differential gene expression and gene-gene network for ALDH1A2 |
| 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 ALDH1A2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0025312 | Meningomyelocele | 1 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| umls:C0242422 | Parkinsonian Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ALDH1A2 |
| 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 |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Approved|nutraceutical|vet_approved | DB00162 | Vitamin A | Small molecule |  |
| Approved|investigational|nutraceutical | DB00755 | Tretinoin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ALDH1A2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ALDH1A2 |
| Multiple alignments for O94788 in multiple species |
| LBS | AA sequence | # species | Species | A212 | VVIKPAEQTPL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | A212 | CILKPAAVTPL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A248 | GPTAGAAIASH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A248 | GRTVGAALTND | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A248 | GPIVGAAIASH | 1 | Gallus gallus | E213 | VIKPAEQTPLS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | E213 | ILKPAAVTPLN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F261 | IDKIAFTGSTE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F261 | IRKLAFTGSTE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G243 | ILPGYGPTAGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G243 | IVPGPGRTVGA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G243 | ILPGFGPIVGA | 1 | Gallus gallus | G247 | YGPTAGAAIAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G247 | PGRTVGAALTN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G247 | FGPIVGAAIAS | 1 | Gallus gallus | G263 | KIAFTGSTEVG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G263 | KLAFTGSTEVG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I183 | GVCGQIIPWNF | 5 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Gallus gallus, Mus musculus, Rattus norvegicus | I184 | VCGQIIPWNFP | 5 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Gallus gallus, Mus musculus, Rattus norvegicus | I271 | EVGKLIQEAAG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I271 | EVGKSVAVDSS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K210 | NTVVIKPAEQT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K210 | NVCILKPAAVT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P244 | LPGYGPTAGAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P244 | VPGPGRTVGAA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P244 | LPGFGPIVGAA | 1 | Gallus gallus | S264 | IAFTGSTEVGK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S264 | LAFTGSTEVGK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V267 | TGSTEVGKLIQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | V267 | TGSTEVGKSVA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W186 | GQIIPWNFPLL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | W186 | GQIIPWNFPIM | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y242 | NILPGYGPTAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y242 | NIVPGPGRTVG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y242 | NILPGFGPIVG | 1 | Gallus gallus |
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