ALPK2: Alpha Kinase 2 Gene
A comprehensive overview of ALPK2, its function, expression, and associated diseases.
Gene Information Card
| Symbol | ALPK2 |
|---|---|
| Full Name | Alpha Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.31 |
| NCBI Gene ID | 115701 ncbi.nlm.nih.gov/gene/115701 |
| Ensembl ID | ENSG00000134352 |
| UniProt ID | Q86TB3 |
| OMIM ID | 607347 |
| HGNC ID | 15779 |
| Aliases | HAK, LAK, FLJ20232 |
Description
ALPK2 (Alpha Kinase 2) encodes a member of the alpha kinase family, a group of atypical serine/threonine kinases. The protein is involved in cardiac development, particularly in the formation of the atrioventricular canal and outflow tract. It also plays a role in cell adhesion and migration. ALPK2 has been implicated in various cancers, including colorectal and gastric cancers, where it may act as a tumor suppressor or oncogene depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | ALPK2 mutations and altered expression may contribute to tumorigenesis through dysregulation of cell adhesion and migration pathways. | COSMIC; PMID: 23535649 |
| Gastric Cancer | Reduced ALPK2 expression is associated with poor prognosis and may promote metastasis via loss of cell adhesion. | PMID: 23535649 |
| Cardiac Malformations | ALPK2 is essential for heart development; mutations may lead to congenital heart defects such as atrioventricular septal defects. | OMIM: 607347; PMID: 19110259 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 8.2 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| HCT 116 | 6.5 | Colorectal carcinoma cells |
| MCF7 | 5.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2146C>T (p.Arg716Trp) | Missense | 0.01% | Unknown functional effect; reported in COSMIC |
| c.3073G>A (p.Gly1025Arg) | Missense | 0.005% | Potential loss of kinase activity |
| c.1234_1235insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ALPK2 are predicted to result in loss of kinase activity, potentially contributing to tumor suppression loss in colorectal cancer.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for ALPK2.
Dominant Negative (DN)
No dominant-negative mutations have been described for ALPK2.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • cell adhesion | • cardiac muscle cell development |
| • signal transduction |
Pathways
• Cardiac development (atrioventricular canal formation)
• Cell adhesion and migration pathways
Protein Summary
ALPK2 is a 1237-amino acid protein containing an N-terminal alpha-kinase domain and multiple ankyrin repeats. It localizes to the cytoplasm and cell membrane. The kinase domain phosphorylates serine/threonine residues, and the ankyrin repeats mediate protein-protein interactions. ALPK2 is involved in cardiac morphogenesis and may regulate cell adhesion through interactions with cadherins and catenins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALPK2 Knockout HEK293 Cell Line | EDJ-KQ3335 | Human | 115701 | Details Get a Quote |
| ALPK2 Knockout A-549 Cell Line | EDJ-KQ24972 | Human | 115701 | Details Get a Quote |
| ALPK2 Knockout HeLa Cell Line | EDJ-KQ24973 | Human | 115701 | Details Get a Quote |
| ALPK2 Knockout HCT 116 Cell Line | EDJ-KQ74871 | Human | 115701 | Details Get a Quote |
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