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mutLBSgeneDB |
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| Gene summary for ALKBH2 |
 Gene summary |
| Basic gene Info. | Gene symbol | ALKBH2 |
| Gene name | alkB, alkylation repair homolog 2 (E. coli) | |
| Synonyms | ABH2 | |
| Cytomap | UCSC genome browser: 12q24.11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001001655.2, NM_001145374.1,NM_001145375.1,NM_001205179.1,NM_001205180.1, | |
| Description | 2OG-Fe(II) oxy DC1DNA oxidative demethylase ALKBH2alkylated DNA repair protein alkB homolog 2alpha-ketoglutarate-dependent dioxygenase alkB homolog 2oxy DC1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610602 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000189046 | ||
| HPRD : 14712 | ||
| Vega : OTTHUMG00000169246 | ||
| Protein | UniProt: Q6NS38 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALKBH2 | |
| BioGPS: 121642 | ||
| Pathway | NCI Pathway Interaction Database: ALKBH2 | |
| KEGG: ALKBH2 | ||
| REACTOME: ALKBH2 | ||
| Pathway Commons: ALKBH2 | ||
| Context | iHOP: ALKBH2 | |
| ligand binding site mutation search in PubMed: ALKBH2 | ||
| UCL Cancer Institute: ALKBH2 | ||
| 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:0006307 | DNA dealkylation involved in DNA repair | 18432238 | GO:0035511 | oxidative DNA demethylation | 18432238 |
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| Ligand binding site mutations for ALKBH2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G169 | G169W | LUAD | 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 ALKBH2 |
| 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 | G169 | G169W | -0.30209822 |
| (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 ALKBH2 from PDB |
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| Differential gene expression and gene-gene network for ALKBH2 |
| 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 ALKBH2 |
| 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 ALKBH2 |
| 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 |
| Approved|nutraceutical | DB00126 | Vitamin C | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ALKBH2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3btx | A | G169 | NUC | Nucleic Acids | 3btz | A | G169 | NUC | Nucleic Acids | 3bu0 | A | G169 | NUC | Nucleic Acids | 3h8o | A | G169 | NUC | Nucleic Acids | 3h8r | A | G169 | NUC | Nucleic Acids | 3h8x | A | G169 |
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| Conservation information for LBS of ALKBH2 |
| Multiple alignments for Q6NS38 in multiple species |
| LBS | AA sequence | # species | Species | A97 | FTGALARVQVF | 2 | Homo sapiens, Bos taurus | A97 | FTGALAKVQVF | 1 | Mus musculus | D173 | IGEHRDDEREL | 3 | Homo sapiens, Mus musculus, Bos taurus | D174 | GEHRDDERELA | 3 | Homo sapiens, Mus musculus, Bos taurus | E170 | CDHIGEHRDDE | 2 | Homo sapiens, Mus musculus | E170 | QDHIGEHRDDE | 1 | Bos taurus | E175 | EHRDDERELAP | 2 | Homo sapiens, Mus musculus | E175 | EHRDDERELAL | 1 | Bos taurus | F102 | ARVQVFGKWHS | 2 | Homo sapiens, Bos taurus | F102 | AKVQVFGKWHS | 1 | Mus musculus | F124 | GLTYTFSGLTL | 3 | Homo sapiens, Mus musculus, Bos taurus | F195 | GACRDFVFRHK | 2 | Homo sapiens, Bos taurus | F195 | GACRDFIFRHK | 1 | Mus musculus | G103 | RVQVFGKWHSV | 2 | Homo sapiens, Bos taurus | G103 | KVQVFGKWHSV | 1 | Mus musculus | G126 | TYTFSGLTLSP | 2 | Homo sapiens, Bos taurus | G126 | TYTFSGLTLTP | 1 | Mus musculus | G169 | GCDHIGEHRDD | 2 | Homo sapiens, Mus musculus | G169 | GQDHIGEHRDD | 1 | Bos taurus | G204 | HKDSRGKSPSR | 1 | Homo sapiens | G204 | HKDSRGKRPRR | 1 | Mus musculus | G204 | HKDSRGKHPSR | 1 | Bos taurus | H106 | VFGKWHSVPRK | 3 | Homo sapiens, Mus musculus, Bos taurus | H167 | KDGCDHIGEHR | 2 | Homo sapiens, Mus musculus | H167 | KDGQDHIGEHR | 1 | Bos taurus | H171 | DHIGEHRDDER | 3 | Homo sapiens, Mus musculus, Bos taurus | H236 | NTHWYHSLPVR | 2 | Homo sapiens, Bos taurus | H236 | NTHWYHSLPIR | 1 | Mus musculus | I168 | DGCDHIGEHRD | 2 | Homo sapiens, Mus musculus | I168 | DGQDHIGEHRD | 1 | Bos taurus | K104 | VQVFGKWHSVP | 3 | Homo sapiens, Mus musculus, Bos taurus | K205 | KDSRGKSPSRR | 1 | Homo sapiens | K205 | KDSRGKRPRRT | 1 | Mus musculus | K205 | KDSRGKHPSRR | 1 | Bos taurus | K242 | SLPVRKKVLAP | 2 | Homo sapiens, Bos taurus | K242 | SLPIRKRVLAP | 1 | Mus musculus | K243 | LPVRKKVLAPR | 2 | Homo sapiens, Bos taurus | K243 | LPIRKRVLAPR | 1 | Mus musculus | L157 | TFNFVLINRYK | 2 | Homo sapiens, Bos taurus | L157 | TFNFVLVNRYK | 1 | Mus musculus | L178 | DDERELAPGSP | 2 | Homo sapiens, Mus musculus | L178 | DDERELALGSP | 1 | Bos taurus | N159 | NFVLINRYKDG | 2 | Homo sapiens, Bos taurus | N159 | NFVLVNRYKDG | 1 | Mus musculus | N250 | LAPRVNLTFRK | 3 | Homo sapiens, Mus musculus, Bos taurus | P109 | KWHSVPRKQAT | 3 | Homo sapiens, Mus musculus, Bos taurus | Q100 | ALARVQVFGKW | 2 | Homo sapiens, Bos taurus | Q100 | ALAKVQVFGKW | 1 | Mus musculus | R110 | WHSVPRKQATY | 3 | Homo sapiens, Mus musculus, Bos taurus | R172 | HIGEHRDDERE | 3 | Homo sapiens, Mus musculus, Bos taurus | R176 | HRDDERELAPG | 2 | Homo sapiens, Mus musculus | R176 | HRDDERELALG | 1 | Bos taurus | R198 | RDFVFRHKDSR | 2 | Homo sapiens, Bos taurus | R198 | RDFIFRHKDSR | 1 | Mus musculus | R203 | RHKDSRGKSPS | 1 | Homo sapiens | R203 | RHKDSRGKRPR | 1 | Mus musculus | R203 | RHKDSRGKHPS | 1 | Bos taurus | R215 | RVAVVRLPLAH | 1 | Homo sapiens | R215 | TVEVVRLQLAH | 1 | Mus musculus | R215 | RLEVVRLQLAH | 1 | Bos taurus | R241 | HSLPVRKKVLA | 2 | Homo sapiens, Bos taurus | R241 | HSLPIRKRVLA | 1 | Mus musculus | R248 | KVLAPRVNLTF | 2 | Homo sapiens, Bos taurus | R248 | RVLAPRVNLTF | 1 | Mus musculus | R254 | VNLTFRKILPT | 2 | Mus musculus, Bos taurus | R254 | VNLTFRKILLT | 1 | Homo sapiens | R98 | TGALARVQVFG | 2 | Homo sapiens, Bos taurus | R98 | TGALAKVQVFG | 1 | Mus musculus | S125 | LTYTFSGLTLS | 2 | Homo sapiens, Bos taurus | S125 | LTYTFSGLTLT | 1 | Mus musculus | T123 | AGLTYTFSGLT | 2 | Homo sapiens, Mus musculus | T123 | TGLTYTFSGLT | 1 | Bos taurus | T252 | PRVNLTFRKIL | 3 | Homo sapiens, Mus musculus, Bos taurus | V101 | LARVQVFGKWH | 2 | Homo sapiens, Bos taurus | V101 | LAKVQVFGKWH | 1 | Mus musculus | V240 | YHSLPVRKKVL | 2 | Homo sapiens, Bos taurus | V240 | YHSLPIRKRVL | 1 | Mus musculus | V99 | GALARVQVFGK | 2 | Homo sapiens, Bos taurus | V99 | GALAKVQVFGK | 1 | Mus musculus | W105 | QVFGKWHSVPR | 3 | Homo sapiens, Mus musculus, Bos taurus | Y122 | DAGLTYTFSGL | 2 | Homo sapiens, Mus musculus | Y122 | DTGLTYTFSGL | 1 | Bos taurus | Y235 | TNTHWYHSLPV | 2 | Homo sapiens, Bos taurus | Y235 | TNTHWYHSLPI | 1 | Mus musculus |
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