Cancer Cell Metabolism Gene Database

  Cancer Cell Metabolism Gene DB

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Phenotypic Information (metabolism pathway, cancer, disease, phenome)

Mutations: SVs, CNVs, SNVs

Gene expression: GE, Protein, DEGE, CNV vs GE

Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG

Pharmacological Information: Drug-Gene Network

Cross referenced IDs

Gene Summary for ALDH2
Basic gene info.Gene symbolALDH2
Gene namealdehyde dehydrogenase 2 family (mitochondrial)
SynonymsALDH-E2|ALDHI|ALDM
CytomapUCSC genome browser: 12q24.2
Genomic locationchr12 :112204690-112247789
Type of geneprotein-coding
RefGenesNM_000690.3,
NM_001204889.1,
Ensembl idENSG00000111275
DescriptionALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase, mitochondrialliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2
Modification date20141222
dbXrefs MIM : 100650
HGNC : HGNC
Ensembl : ENSG00000111275
HPRD : 00003
Vega : OTTHUMG00000169603
ProteinUniProt: P05091
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALDH2
BioGPS: 217
Gene Expression Atlas: ENSG00000111275
The Human Protein Atlas: ENSG00000111275
PathwayNCI Pathway Interaction Database: ALDH2
KEGG: ALDH2
REACTOME: ALDH2
ConsensusPathDB
Pathway Commons: ALDH2
MetabolismMetaCyc: ALDH2
HUMANCyc: ALDH2
RegulationEnsembl's Regulation: ENSG00000111275
miRBase: chr12 :112,204,690-112,247,789
TargetScan: NM_000690
cisRED: ENSG00000111275
ContextiHOP: ALDH2
cancer metabolism search in PubMed: ALDH2
UCL Cancer Institute: ALDH2
Assigned class in ccmGDBA - This gene has a literature evidence and it belongs to cancer gene.
References showing role of ALDH2 in cancer cell metabolism1. Hakenewerth AM, Millikan RC, Rusyn I, Herring AH, North KE, et al. (2011) Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer. Cancer Epidemiol Biomarkers Prev 20: 2438-2449. doi: 10.1158/1055-9965.EPI-11-0649. pmid: 3210881. go to article
2. Oh HR, An CH, Yoo NJ, Lee SH (2014) Somatic mutations of amino acid metabolism-related genes in gastric and colorectal cancers and their regional heterogeneity--a short report. Cell Oncol (Dordr) 37: 455-461. doi: 10.1007/s13402-014-0209-1. go to article
3. Tsai ST, Wong TY, Ou CY, Fang SY, Chen KC, et al. (2014) The interplay between alcohol consumption, oral hygiene, ALDH2 and ADH1B in the risk of head and neck cancer. Int J Cancer 135: 2424-2436. doi: 10.1002/ijc.28885. go to article
4. Jin S, Chen J, Chen L, Histen G, Lin Z, et al. (2015) ALDH2(E487K) mutation increases protein turnover and promotes murine hepatocarcinogenesis. Proc Natl Acad Sci U S A. doi: 10.1073/pnas.1510757112. go to article

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Phenotypic Information for ALDH2(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: ALDH2
Familial Cancer Database: ALDH2
* This gene is included in those cancer gene databases.

Oncogene 1

Tumor Suppressor gene 2

Cancer Gene Census 3

CancerGenes 4

Network of Cancer Gene 5

Significant driver gene in

Therapeutic Vulnerabilities in Cancer1

cf) number; DB name
1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/,
3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html,
4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long,
5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php,
1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/

check002.gifMetabolic Pathway Description
KEGG_GLYCOLYSIS_GLUCONEOGENESIS
KEGG_ASCORBATE_AND_ALDARATE_METABOLISM
KEGG_FATTY_ACID_METABOLISM
KEGG_ARGININE_AND_PROLINE_METABOLISM
KEGG_HISTIDINE_METABOLISM
KEGG_TRYPTOPHAN_METABOLISM
KEGG_BETA_ALANINE_METABOLISM
KEGG_GLYCEROLIPID_METABOLISM
KEGG_PYRUVATE_METABOLISM
KEGG_PROPANOATE_METABOLISM
KEGG_BUTANOATE_METABOLISM

check002.gifOthers
OMIM 100650; gene+phenotype.
610251; phenotype.
Orphanet
DiseaseKEGG Disease: ALDH2
MedGen: ALDH2 (Human Medical Genetics with Condition)
ClinVar: ALDH2
PhenotypeMGI: ALDH2 (International Mouse Phenotyping Consortium)
PhenomicDB: ALDH2

Mutations for ALDH2
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram

- Statistics for Tissue and Mutation typeTop
- For Inter-chromosomal Variations
There's no inter-chromosomal structural variation.
- For Intra-chromosomal Variations
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'.
SampleSymbol_aChr_aStart_aEnd_aSymbol_bChr_bStart_bEnd_b
ovaryALDH2chr12112246575112246595chr12112249094112249114
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract)

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ALDH2 related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a
S80262RPSAP521184126621911866232351ALDH218241012112247346112247574
CA309127ALDH21748112112241751112247784KCNE1471744213581981935820094
AI907073ALDH26128212112230461112235978ALDH227347512112236012112237886

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr
There's no copy number variation information in COSMIC data for this gene.

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check002.gifSNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation

 : Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=7

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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=31)
Stat. for Synonymous SNVs
(# total SNVs=6)
Stat. for Deletions
(# total SNVs=0)
Stat. for Insertions
(# total SNVs=1)
There's no deleted snv.

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check002.gifTop 10 SNVs Having the Most Samples in COSMIC data
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID.
GRCh37 positionMutation(aa)Unique sampleID count
chr12:112228251-112228251p.L189P6
chr12:112235926-112235926p.T376T3
chr12:112235944-112235944p.A382A2
chr12:112221067-112221067p.A109T2
chr12:112237741-112237741p.F427S2
chr12:112219760-112219760p.R51R2
chr12:112227732-112227732p.I182I2
chr12:112237856-112237856p.A465A2
chr12:112219827-112219827p.?1
chr12:112229892-112229892p.G275R1

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check002.gifSNV Counts per Each Loci in TCGA data

 : non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=6

Point Mutation/ Tissue ID1234567891011121314151617181920
# sample   11  1 22 221  123 5
# mutation   6  1 22 221  103 5
nonsynonymous SNV   6  1 22 12   33 3
synonymous SNV           1 1  7  2
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma])

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check002.gifTop 10 SNVs Having the Most Samples in TCGA data
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID.
Genomic PositionMutation(aa)Unique sampleID count
chr12:112228251p.L142P,ALDH26
chr12:112219760p.R51R,ALDH22
chr12:112237856p.A418A,ALDH22
chr12:112221087p.D117D,ALDH21
chr12:112228316p.A335V,ALDH21
chr12:112235947p.Y123H,ALDH21
chr12:112221090p.A335A,ALDH21
chr12:112229114p.K336N,ALDH21
chr12:112235973p.L142L,ALDH21
chr12:112223073p.A345V,ALDH21

check002.gifOther DBs for Point Mutations
Point Mutation Table of Ensembl: go to Ensembl variation table
Mutation of cBioPortal: go to cBioPortal's Cross-cancer alteration summary

check002.gifCopy Number for ALDH2 in TCGA
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene.
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, 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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Gene Expression for ALDH2

check002.gifGene Expression in Cancer Cell-lines (CCLE)
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data.

check002.gifDifferential Gene Expression in Primary Tumors (TCGA)
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis.
(t test, adjusted p<0.05 (using Benjamini-Hochberg FDR))
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check002.gifCNV vs Gene Expression Plot
* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types


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Gene-Gene Network Information
check002.gifCo-Expressed gene's network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

ACSM5,ADH1B,ADIPOQ,ALDH2,AOC3,AQP7,C14orf180,
CEBPA,CIDEC,GIMAP1,GPD1,GPR146,KCNIP2,LIPE,
LOC283392,NR1H3,PLIN1,SLC19A3,SLC8B1,TMEM132C,TMEM37
ACO1,ALDH2,AQP7,FAM213A,CALB2,CIDEC,FBXO27,
GPD1,GYG2,HEPACAM,HEPN1,LIPE,NPR1,PJA1,
PLA2G16,PLIN1,RDH5,TMEM132C,TUSC5,TYRO3,VTI1B

AACS,ACADS,ACOT11,ADH6,ALDH2,C10orf99,C11orf49,
EPS8L3,FAM109A,GGT6,MAPKAPK5,MCCC2,MMAB,MVK,
PRDX5,PRR13,SCARB1,SUCLG2,SUOX,TMEM53,TST
ABHD5,ACOX1,ALDH2,ANO10,APLP2,ATP1B1,LINC00483,
SUGCT,CAST,RHOV___CHP1,ETFDH,GAREM,GNG12,MARVELD3,
RNF103,SLC41A2,SMAP1,SPPL2A,TGFA,UGT1A10,VDAC1
check002.gifCo-Expressed gene's Protein-protein interaction Network Plot
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown.
Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene

: Open all plots for all cancer types

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check002.gifInteracting Genes (from Pathway Commons)

: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID

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Pharmacological Information for ALDH2
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link
ChemistryBindingDB P05091; -.
ChemistryChEMBL CHEMBL1935; -.
ChemistryGuidetoPHARMACOLOGY 2595; -.
Organism-specific databasesPharmGKB PA24696; -.
Organism-specific databasesCTD 217; -.

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB00157aldehyde dehydrogenase 2 family (mitochondrial)approved; nutraceuticalNADH
DB00536aldehyde dehydrogenase 2 family (mitochondrial)approvedGuanidine
DB00822aldehyde dehydrogenase 2 family (mitochondrial)approvedDisulfiram
DB01907aldehyde dehydrogenase 2 family (mitochondrial)experimentalNicotinamide-Adenine-Dinucleotide
DB02115aldehyde dehydrogenase 2 family (mitochondrial)experimentalDaidzin
DB04381aldehyde dehydrogenase 2 family (mitochondrial)experimentalCrotonaldehyde
DB00325aldehyde dehydrogenase 2 family (mitochondrial)approvedNitroprusside
DB00727aldehyde dehydrogenase 2 family (mitochondrial)approved; investigationalNitroglycerin
DB00898aldehyde dehydrogenase 2 family (mitochondrial)approvedEthanol


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Cross referenced IDs for ALDH2
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section

: Open all cross reference information



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