ALKBH2
AlkB Homolog 2, Alpha-Ketoglutarate Dependent Dioxygenase
Gene Information Card
| Symbol | ALKBH2 |
|---|---|
| Full Name | AlkB Homolog 2, Alpha-Ketoglutarate Dependent Dioxygenase |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 121642 ncbi.nlm.nih.gov/gene/121642 |
| Ensembl ID | ENSG00000111537 |
| UniProt ID | Q6NS38 |
| OMIM ID | 610602 |
| HGNC ID | 32411 |
| Aliases | ABH2, ALKBH2, MGC131930 |
Description
ALKBH2 is a DNA repair enzyme that directly reverses alkylation damage at 1-methyladenine and 3-methylcytosine residues in DNA. It belongs to the AlkB family of alpha-ketoglutarate-dependent dioxygenases and requires iron as a cofactor. The enzyme removes methyl groups from damaged bases, restoring the original base without requiring excision or strand breakage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioma | ALKBH2 overexpression may promote tumor growth by repairing alkylation damage induced by chemotherapy, reducing treatment efficacy. | ClinVar, COSMIC |
| Colorectal cancer | Somatic mutations and altered expression levels have been reported in colorectal tumors, potentially affecting DNA repair capacity. | COSMIC |
| Lung cancer | Copy number gains and increased mRNA expression observed in lung adenocarcinoma samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Bone marrow | 6.5 | Medium |
| Brain | 4.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney |
| HeLa | 5.3 | Cervical carcinoma |
| A549 | 4.9 | Lung carcinoma |
| MCF7 | 4.2 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R131W | Missense | <0.1% | Unknown functional impact |
| p.G228D | Missense | <0.1% | Unknown functional impact |
| c.1A>G | Start loss | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., c.1A>G) are predicted to abolish protein expression.
Gain of Function (GOF)
No gain-of-function mutations have been characterized.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • oxidative demethylation |
| • alpha-ketoglutarate-dependent dioxygenase activity | • iron ion binding |
| • nucleus |
Pathways
• Base excision repair (indirect)
• AlkB family-mediated DNA repair
Protein Summary
ALKBH2 is a 261-amino acid protein that localizes to the nucleus. It contains a conserved double-stranded beta-helix fold characteristic of the AlkB family. The enzyme uses alpha-ketoglutarate and molecular oxygen to oxidatively demethylate 1-methyladenine and 3-methylcytosine in DNA, releasing formaldehyde and succinate. It is constitutively expressed and repairs both double-stranded and single-stranded DNA.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH2 Knockout HEK293 Cell Line | EDJ-KQ8103 | Human | 121642 | Details Get a Quote |
| ALKBH2 Knockout A-549 Cell Line | EDJ-KQ33969 | Human | 121642 | Details Get a Quote |
| ALKBH2 Knockout HCT 116 Cell Line | EDJ-KQ33970 | Human | 121642 | Details Get a Quote |
| ALKBH2 Knockout HeLa Cell Line | EDJ-KQ33971 | Human | 121642 | Details Get a Quote |
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