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mutLBSgeneDB |
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| Gene summary for ADH4 |
 Gene summary |
| Basic gene Info. | Gene symbol | ADH4 |
| Gene name | alcohol dehydrogenase 4 (class II), pi polypeptide | |
| Synonyms | ADH-2|HEL-S-4 | |
| Cytomap | UCSC genome browser: 4q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000670.3, | |
| Description | alcohol dehydrogenase 4alcohol dehydrogenase class II pi chainaldehyde reductaseepididymis secretory protein Li 4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 103740 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198099 | ||
| HPRD : 00068 | ||
| Vega : OTTHUMG00000161227 | ||
| Protein | UniProt: P08319 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADH4 | |
| BioGPS: 127 | ||
| Pathway | NCI Pathway Interaction Database: ADH4 | |
| KEGG: ADH4 | ||
| REACTOME: ADH4 | ||
| Pathway Commons: ADH4 | ||
| Context | iHOP: ADH4 | |
| ligand binding site mutation search in PubMed: ADH4 | ||
| UCL Cancer Institute: ADH4 | ||
| 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:0001523 | retinoid metabolic process | 15369820 | GO:0006066 | alcohol metabolic process | 3466164 | GO:0006069 | ethanol oxidation | 16787387 | GO:0006081 | cellular aldehyde metabolic process | 3466164 | GO:0042572 | retinol metabolic process | 16787387 |
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| Ligand binding site mutations for ADH4 |
| 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 | F324 | F324L | COAD | 1 | A275 | G276S | HNSC | 1 | H69 | E70G | PRAD | 1 | V209 | V209E | SKCM | 1 | A275 | G277E | SKCM | 1 | K234 | K234T | STAD | 1 | D229 | I228T | UCEC | 1 | H69 | V67I | 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 ADH4 |
| 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 | D229 | I228T | -1.6306212 | K234 | K234T | -1.2600368 | H69 | E70G | -0.62167664 | H69 | V67I | -0.52845085 | A275 | G277E | -0.45142436 | F324 | F324L | -0.34048152 | V209 | V209E | -0.3303474 | A275 | G276S | -0.32142957 |
| (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 ADH4 from PDB |
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| Differential gene expression and gene-gene network for ADH4 |
| 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 ADH4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADH4 |
| 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 |  |
| Experimental | DB03559 | Cyclohexylformamide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ADH4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3cos | A | H69 | ZN | ZINC(2+) | 3cos | B | H69 | ZN | ZINC(2+) | 3cos | C | H69 | ZN | ZINC(2+) | 3cos | D | H69 | NAD | NAD ZWITTERION | 3cos | A | V209 D229 K234 A275 F324 | NAD | NAD ZWITTERION | 3cos | B | V209 D229 K234 A275 F324 | NAD | NAD ZWITTERION | 3cos | C | V209 D229 K234 A275 F324 | NAD | NAD ZWITTERION | 3cos | D | V209 D229 K234 A275 F324 |
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| Conservation information for LBS of ADH4 |
| Multiple alignments for P08319 in multiple species |
| LBS | AA sequence | # species | Species | A275 | FALDCAGGSET | 1 | Homo sapiens | A275 | RSVECTGSVQA | 1 | Arabidopsis thaliana | A275 | RSVECTGNINA | 1 | Oryza sativa subsp. japonica | A275 | RAVECTGNINA | 1 | Oryza sativa subsp. japonica | A275 | YSLDCAGTAQT | 1 | Mus musculus | C102 | PLCRKCKFCLS | 1 | Homo sapiens | C102 | GECGECRHCHS | 1 | Arabidopsis thaliana | C102 | GECKECAHCKS | 1 | Oryza sativa subsp. japonica | C102 | GECKECDHCKS | 1 | Oryza sativa subsp. japonica | C102 | PQCKRCKLCLS | 1 | Mus musculus | C105 | RKCKFCLSPLT | 1 | Homo sapiens | C105 | GECRHCHSEES | 1 | Arabidopsis thaliana | C105 | KECAHCKSAES | 1 | Oryza sativa subsp. japonica | C105 | KECDHCKSEES | 1 | Oryza sativa subsp. japonica | C105 | KRCKLCLSPLT | 1 | Mus musculus | C113 | EESNMCDLLR- | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | C113 | PLTNLCGKISN | 1 | Homo sapiens | C113 | AESNMCDLLR- | 1 | Oryza sativa subsp. japonica | C113 | PLTNLCGKLRN | 1 | Mus musculus | C180 | VCLLGCGFSTG | 1 | Homo sapiens | C180 | VCIVSCGLSTG | 1 | Arabidopsis thaliana | C180 | VCVLSCGISTG | 1 | Oryza sativa subsp. japonica | C180 | VCILSCGFSTG | 1 | Oryza sativa subsp. japonica | C180 | VCLIGCGFSSG | 1 | Mus musculus | C274 | DFALDCAGGSE | 1 | Homo sapiens | C274 | DRSVECTGSVQ | 1 | Arabidopsis thaliana | C274 | DRSVECTGNIN | 1 | Oryza sativa subsp. japonica | C274 | DRAVECTGNIN | 1 | Oryza sativa subsp. japonica | C274 | DYSLDCAGTAQ | 1 | Mus musculus | C47 | LFTSLCHTDVY | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | C47 | IATSLCHTDAT | 1 | Homo sapiens | C47 | LYTALCHTDVY | 1 | Oryza sativa subsp. japonica | C47 | IATCVCPTDIN | 1 | Mus musculus | C99 | LYAPLCRKCKF | 1 | Homo sapiens | C99 | IFTGECGECRH | 1 | Arabidopsis thaliana | C99 | VFTGECKECAH | 1 | Oryza sativa subsp. japonica | C99 | VFTGECKECDH | 1 | Oryza sativa subsp. japonica | C99 | FFAPQCKRCKL | 1 | Mus musculus | D229 | RIIGIDINSEK | 1 | Homo sapiens | D229 | RIIGVDFNSKR | 1 | Arabidopsis thaliana | D229 | RIIGIDLNANR | 1 | Oryza sativa subsp. japonica | D229 | RIIGVDLNPAK | 1 | Oryza sativa subsp. japonica | D229 | RIIAIDINGEK | 1 | Mus musculus | F324 | TLKGTFFGNYK | 3 | Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | F324 | TINGTFFGGWK | 1 | Homo sapiens | F324 | SINGTFFGGWK | 1 | Mus musculus | F325 | LKGTFFGNYKP | 3 | Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | F325 | INGTFFGGWKS | 2 | Homo sapiens, Mus musculus | G205 | TVAIFGLGAVG | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | G205 | TCAVFGLGGVG | 1 | Homo sapiens | G205 | SVAIFGLGAVG | 1 | Arabidopsis thaliana | G205 | TCAVFGLGCVG | 1 | Mus musculus | G207 | AIFGLGAVGLA | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | G207 | AVFGLGGVGLS | 1 | Homo sapiens | G207 | AIFGLGAVGLG | 1 | Arabidopsis thaliana | G207 | AVFGLGCVGLS | 1 | Mus musculus | G208 | IFGLGAVGLAA | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | G208 | VFGLGGVGLSA | 1 | Homo sapiens | G208 | IFGLGAVGLGA | 1 | Arabidopsis thaliana | G208 | VFGLGCVGLSA | 1 | Mus musculus | G299 | SCTFIGVAAGS | 1 | Homo sapiens | G299 | VAVLVGVPSKD | 1 | Arabidopsis thaliana | G299 | VAVLVGVPHKD | 1 | Oryza sativa subsp. japonica | G299 | VAVLVGVPTKD | 1 | Oryza sativa subsp. japonica | G299 | SCTVVG--AKV | 1 | Mus musculus | H48 | FTSLCHTDVYF | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H48 | ATSLCHTDATV | 1 | Homo sapiens | H48 | YTALCHTDVYF | 1 | Oryza sativa subsp. japonica | H48 | ATCVCPTDINA | 1 | Mus musculus | H69 | PRIFGHEAGGI | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H69 | PVIVGHEAAGI | 1 | Homo sapiens | H69 | PRILGHEAGGI | 1 | Oryza sativa subsp. japonica | H69 | PVVLGHECAGI | 1 | Mus musculus | I230 | IIGIDINSEKF | 1 | Homo sapiens | I230 | IIGVDFNSKRF | 1 | Arabidopsis thaliana | I230 | IIGIDLNANRF | 1 | Oryza sativa subsp. japonica | I230 | IIGVDLNPAKF | 1 | Oryza sativa subsp. japonica | I230 | IIAIDINGEKF | 1 | Mus musculus | I298 | GSCTFIGVAAG | 1 | Homo sapiens | I298 | GVAVLVGVPSK | 1 | Arabidopsis thaliana | I298 | GVAVLVGVPHK | 1 | Oryza sativa subsp. japonica | I298 | GVAVLVGVPTK | 1 | Oryza sativa subsp. japonica | I298 | GSCTVVG--AK | 1 | Mus musculus | K234 | DINSEKFVKAK | 1 | Homo sapiens | K234 | DFNSKRFDQAK | 1 | Arabidopsis thaliana | K234 | DLNANRFEEAR | 1 | Oryza sativa subsp. japonica | K234 | DLNPAKFEQAK | 1 | Oryza sativa subsp. japonica | K234 | DINGEKFPKAK | 1 | Mus musculus | R375 | QGKSVRTILIF | 1 | Homo sapiens | R375 | KGESIRCIITM | 1 | Arabidopsis thaliana | R375 | KGEGIRCIIRM | 1 | Oryza sativa subsp. japonica | R375 | KGESLRCVMRM | 1 | Oryza sativa subsp. japonica | R375 | EGKSIRTILTF | 1 | Mus musculus | T184 | GCGFSTGYGAA | 1 | Homo sapiens | T184 | SCGLSTGLGAT | 1 | Arabidopsis thaliana | T184 | SCGISTGLGAT | 1 | Oryza sativa subsp. japonica | T184 | SCGFSTGFGAT | 1 | Oryza sativa subsp. japonica | T184 | GCGFSSGYGAA | 1 | Mus musculus | T280 | AGGSETMKAAL | 1 | Homo sapiens | T280 | TGSVQAMIQAF | 1 | Arabidopsis thaliana | T280 | TGNINAMIQAF | 1 | Oryza sativa subsp. japonica | T280 | TGNINAMISCF | 1 | Oryza sativa subsp. japonica | T280 | AGTAQTLKAAV | 1 | Mus musculus | T323 | RTLKGTFFGNY | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | T323 | RTINGTFFGGW | 1 | Homo sapiens | T323 | KTLKGTFFGNY | 1 | Oryza sativa subsp. japonica | T323 | RSINGTFFGGW | 1 | Mus musculus | T49 | TSLCHTDVYFW | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | T49 | TSLCHTDATVI | 1 | Homo sapiens | T49 | TALCHTDVYFW | 1 | Oryza sativa subsp. japonica | T49 | TCVCPTDINAT | 1 | Mus musculus | V209 | FGLGGVGLSAV | 1 | Homo sapiens | V209 | FGLGAVGLGAA | 1 | Arabidopsis thaliana | V209 | FGLGAVGLAAA | 1 | Oryza sativa subsp. japonica | V209 | FGLGAVGLAAM | 1 | Oryza sativa subsp. japonica | V209 | FGLGCVGLSAI | 1 | Mus musculus | V300 | CTFIGVAAGSK | 1 | Homo sapiens | V300 | AVLVGVPSKDD | 1 | Arabidopsis thaliana | V300 | AVLVGVPHKDA | 1 | Oryza sativa subsp. japonica | V300 | AVLVGVPTKDD | 1 | Oryza sativa subsp. japonica | V300 | CTVVG--AKVD | 1 | Mus musculus |
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