ALKBH4
AlkB Homolog 4, Lysine Demethylase
Gene Information Card
| Symbol | ALKBH4 |
|---|---|
| Full Name | AlkB Homolog 4, Lysine Demethylase |
| Gene Type | Protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 54784 ncbi.nlm.nih.gov/gene/54784 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q9NXW9 |
| OMIM ID | 613302 |
| HGNC ID | 21911 |
| Aliases | ABH4, ALKBH4, MAB21L4 |
Description
ALKBH4 (AlkB Homolog 4, Lysine Demethylase) is a protein-coding gene that encodes a member of the AlkB family of dioxygenases. The enzyme catalyzes the demethylation of N6-methyladenosine (m6A) in RNA and may also act on DNA. It is involved in RNA metabolism, gene expression regulation, and cellular stress responses. ALKBH4 is ubiquitously expressed with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or mutation may alter RNA methylation and gene expression | COSMIC, ClinVar |
| Neurodevelopmental disorders | Potential role via RNA methylation in neurons | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Liver | 8.5 | Low |
| Heart | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.7 | Medium expression |
| K562 | 9.2 | Low expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.682G>A (p.Gly228Arg) | Missense | 0.005% (gnomAD) | Potential loss of demethylase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain may reduce demethylase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Oxidoreductase activity | • Dioxygenase activity |
| • RNA demethylase activity | • Nucleus |
| • Cytoplasm |
Pathways
• RNA methylation
• mRNA surveillance
Protein Summary
ALKBH4 is a 286-amino acid protein containing a conserved AlkB domain. It localizes to the nucleus and cytoplasm and demethylates N6-methyladenosine in RNA, influencing RNA stability and translation. The protein is expressed in multiple tissues and is implicated in cancer and neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH4 Knockout HEK293 Cell Line | EDJ-KQ11586 | Human | 54784 | Details Get a Quote |
| ALKBH4 Knockout A-549 Cell Line | EDJ-KQ41180 | Human | 54784 | Details Get a Quote |
| ALKBH4 Knockout HCT 116 Cell Line | EDJ-KQ41181 | Human | 54784 | Details Get a Quote |
| ALKBH4 Knockout HeLa Cell Line | EDJ-KQ41182 | Human | 54784 | Details Get a Quote |
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