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mutLBSgeneDB |
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| Gene summary for AKR7A2 |
 Gene summary |
| Basic gene Info. | Gene symbol | AKR7A2 |
| Gene name | aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) | |
| Synonyms | AFAR|AFAR1|AFB1-AR1|AKR7 | |
| Cytomap | UCSC genome browser: 1p36.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003689.3, | |
| Description | AFB1 aldehyde reductase 1AFB1-AR 1HEL-S-166mPSSA reductaseaflatoxin B1 aldehyde reductase member 2aflatoxin beta1 aldehyde reductasealdoketoreductase 7epididymis secretory sperm binding protein Li 166mPsuccinic semialdehyde reductase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603418 | |
| HGNC : HGNC | ||
| HPRD : 04567 | ||
| Protein | UniProt: O43488 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AKR7A2 | |
| BioGPS: 8574 | ||
| Pathway | NCI Pathway Interaction Database: AKR7A2 | |
| KEGG: AKR7A2 | ||
| REACTOME: AKR7A2 | ||
| Pathway Commons: AKR7A2 | ||
| Context | iHOP: AKR7A2 | |
| ligand binding site mutation search in PubMed: AKR7A2 | ||
| UCL Cancer Institute: AKR7A2 | ||
| 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 |
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| Ligand binding site mutations for AKR7A2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R250 | F251S | LUAD | 1 | Y225 | Y225C | STAD | 1 | N172 | N172H | STAD | 1 | N326 | A328S | 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 AKR7A2 |
| 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 | R250 | F251S | -1.0488764 | N326 | A328S | -1.0426255 | N172 | N172H | -0.86806333 | Y225 | Y225C | -0.70382295 |
| (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 AKR7A2 from PDB |
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| Differential gene expression and gene-gene network for AKR7A2 |
| 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 AKR7A2 |
| 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 AKR7A2 |
| 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 AKR7A2 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 AKR7A2 |
| Multiple alignments for O43488 in multiple species |
| LBS | AA sequence | # species | Species | A229 | AYNPLAGGLLT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D72 | GHTELDTAFMY | 1 | Homo sapiens | D72 | GHSELDTAFMY | 1 | Mus musculus | D72 | GLNELDTAFMY | 1 | Rattus norvegicus | G230 | YNPLAGGLLTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G231 | NPLAGGLLTGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G316 | DAVILGMSSLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G43 | ---VLGTMEMG | 1 | Homo sapiens | G43 | PATVLGTMEMG | 1 | Mus musculus | G43 | PGTVLGTMEMG | 1 | Rattus norvegicus | H141 | DLFYLHAPDHG | 2 | Homo sapiens, Rattus norvegicus | H141 | DLFYLHAPDHS | 1 | Mus musculus | I314 | RGDAVILGMSS | 2 | Mus musculus, Rattus norvegicus | I314 | HGDAVILGMSS | 1 | Homo sapiens | K236 | GLLTGKYKYED | 2 | Homo sapiens, Mus musculus | K236 | GLLTGKYRYED | 1 | Rattus norvegicus | L228 | YAYNPLAGGLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M317 | AVILGMSSLEQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M45 | TVLGTMEMGRR | 2 | Mus musculus, Rattus norvegicus | M45 | -VLGTMEMGRR | 1 | Homo sapiens | N172 | ELGLSNYASWE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N226 | RFYAYNPLAGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N326 | EQLEQNLAATE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P227 | FYAYNPLAGGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q197 | LPTVYQGMYNA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q322 | MSSLEQLEQNL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q325 | LEQLEQNLAAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R250 | KQPVGRFFGNS | 1 | Homo sapiens | R250 | KQPVGRFFGNN | 1 | Mus musculus | R250 | KQPEGRFFGNS | 1 | Rattus norvegicus | R50 | MEMGRRMDASA | 2 | Mus musculus, Rattus norvegicus | R50 | MEMGRRMDAPA | 1 | Homo sapiens | S171 | VELGLSNYASW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S318 | VILGMSSLEQL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T234 | AGGLLTGKYKY | 2 | Homo sapiens, Mus musculus | T234 | AGGLLTGKYRY | 1 | Rattus norvegicus | T44 | --VLGTMEMGR | 1 | Homo sapiens | T44 | ATVLGTMEMGR | 1 | Mus musculus | T44 | GTVLGTMEMGR | 1 | Rattus norvegicus | Y225 | LRFYAYNPLAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y237 | LLTGKYKYEDK | 2 | Homo sapiens, Mus musculus | Y237 | LLTGKYRYEDK | 1 | Rattus norvegicus | Y260 | SWAETYRNRFW | 1 | Homo sapiens | Y260 | NWAETYRNRFW | 1 | Mus musculus | Y260 | SWSETYRNRFW | 1 | Rattus norvegicus | Y77 | DTAFMYCDGQS | 2 | Mus musculus, Rattus norvegicus | Y77 | DTAFMYSDGQS | 1 | Homo sapiens |
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