ETNK2: Ethanolamine Kinase 2
A key enzyme in phospholipid biosynthesis with implications in cancer and metabolic disorders
Gene Information Card
| Symbol | ETNK2 |
|---|---|
| Full Name | Ethanolamine Kinase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 55224 ncbi.nlm.nih.gov/gene/55224 |
| Ensembl ID | ENSG00000143322 |
| UniProt ID | Q9NYZ3 |
| OMIM ID | 609003 |
| HGNC ID | 24638 |
| Aliases | EKI2, Etnk2 |
Description
ETNK2 (ethanolamine kinase 2) encodes a member of the ethanolamine kinase family that catalyzes the phosphorylation of ethanolamine to phosphoethanolamine, the first step in the CDP-ethanolamine pathway for phosphatidylethanolamine biosynthesis. This enzyme is involved in phospholipid metabolism and membrane biogenesis. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered ETNK2 expression may disrupt phospholipid metabolism, promoting tumor growth | COSMIC; PMID: 25691885 |
| Hepatocellular carcinoma | Upregulation of ETNK2 correlates with poor prognosis and altered lipid metabolism | PMID: 31073040 |
| Metabolic syndrome | Variants in ETNK2 may influence phospholipid homeostasis and insulin sensitivity | ClinVar; PMID: 27899602 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| HeLa | 5.4 | Cervical cancer cells |
| MCF7 | 4.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.584G>A (p.Arg195Gln) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1021C>T (p.Arg341Trp) | Missense | <0.01% | Likely benign; ClinVar |
| c.1243_1244insA | Frameshift | <0.01% | Loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1243_1244insA) are predicted to cause loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported in ETNK2.
Dominant Negative (DN)
No dominant-negative mutations reported in ETNK2.
View complete mutation data：
Gene Ontology (GO)
| • ethanolamine kinase activity | • ATP binding |
| • phospholipid biosynthetic process | • phosphatidylethanolamine biosynthetic process |
| • cytosol | • nucleus |
Pathways
• CDP-ethanolamine pathway
• Phospholipid metabolism
• Glycerophospholipid biosynthesis
Protein Summary
Ethanolamine kinase 2 (ETNK2) is a 45 kDa enzyme that phosphorylates ethanolamine using ATP, producing phosphoethanolamine. It is a key regulator of phosphatidylethanolamine synthesis, a major membrane phospholipid. The protein is localized in the cytosol and nucleus, and its expression is highest in testis and liver. ETNK2 dysfunction is linked to altered lipid metabolism in cancer and metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETNK2 Knockout HEK293 Cell Line | EDJ-KQ13336 | Human | 55224 | Details Get a Quote |
| ETNK2 Knockout A-549 Cell Line | EDJ-KQ42809 | Human | 55224 | Details Get a Quote |
| ETNK2 Knockout HCT 116 Cell Line | EDJ-KQ42810 | Human | 55224 | Details Get a Quote |
| ETNK2 Knockout HeLa Cell Line | EDJ-KQ42811 | Human | 55224 | Details Get a Quote |
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