mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ALDH1A2
Gene summary
Basic gene Info.Gene symbolALDH1A2
Gene namealdehyde dehydrogenase 1 family, member A2
CytomapUCSC genome browser: 15q21.3
Type of geneprotein-coding
DescriptionRALDH 2retinal dehydrogenase 2retinaldehyde-specific dehydrogenase type 2
Modification date20141207
dbXrefs MIM : 603687
Ensembl : ENSG00000128918
HPRD : 04733
Vega : OTTHUMG00000132624
ProteinUniProt: O94788
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALDH1A2
BioGPS: 8854
PathwayNCI Pathway Interaction Database: ALDH1A2
Pathway Commons: ALDH1A2
ContextiHOP: ALDH1A2
ligand binding site mutation search in PubMed: ALDH1A2
UCL Cancer Institute: ALDH1A2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0008285negative regulation of cell proliferation16166285
GO:0034097response to cytokine18495959

Ligand binding site mutations for ALDH1A2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of ALDH1A2 and the right PPI network was created from samples without mutations in the LBS of ALDH1A2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ALDH1A2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025312Meningomyelocele1Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms1Biomarker
umls:C0242422Parkinsonian Disorders1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00157NADHSmall molecule
Approved|nutraceutical|vet_approvedDB00162Vitamin ASmall molecule
Approved|investigational|nutraceuticalDB00755TretinoinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ALDH1A2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ALDH1A2
Multiple alignments for O94788 in multiple species
LBSAA sequence# speciesSpecies
A212VVIKPAEQTPL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
A212CILKPAAVTPL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A248GPTAGAAIASH3Homo sapiens, Mus musculus, Rattus norvegicus
A248GRTVGAALTND1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A248GPIVGAAIASH1Gallus gallus
E213VIKPAEQTPLS4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
E213ILKPAAVTPLN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F261IDKIAFTGSTE4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
F261IRKLAFTGSTE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G243ILPGYGPTAGA3Homo sapiens, Mus musculus, Rattus norvegicus
G243IVPGPGRTVGA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G243ILPGFGPIVGA1Gallus gallus
G247YGPTAGAAIAS3Homo sapiens, Mus musculus, Rattus norvegicus
G247PGRTVGAALTN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G247FGPIVGAAIAS1Gallus gallus
G263KIAFTGSTEVG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G263KLAFTGSTEVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I183GVCGQIIPWNF5Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Gallus gallus, Mus musculus, Rattus norvegicus
I184VCGQIIPWNFP5Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Gallus gallus, Mus musculus, Rattus norvegicus
I271EVGKLIQEAAG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
I271EVGKSVAVDSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K210NTVVIKPAEQT4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K210NVCILKPAAVT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P244LPGYGPTAGAA3Homo sapiens, Mus musculus, Rattus norvegicus
P244VPGPGRTVGAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P244LPGFGPIVGAA1Gallus gallus
S264IAFTGSTEVGK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S264LAFTGSTEVGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V267TGSTEVGKLIQ4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
V267TGSTEVGKSVA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W186GQIIPWNFPLL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
W186GQIIPWNFPIM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y242NILPGYGPTAG3Homo sapiens, Mus musculus, Rattus norvegicus
Y242NIVPGPGRTVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y242NILPGFGPIVG1Gallus gallus

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