AHNAK (AHNAK Nucleoprotein) Gene
A comprehensive guide to the AHNAK gene, its function, expression, and role in human disease.
Gene Information Card
| Symbol | AHNAK |
|---|---|
| Full Name | AHNAK nucleoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 79026 ncbi.nlm.nih.gov/gene/79026 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q09666 |
| OMIM ID | 103390 |
| HGNC ID | 347 |
| Aliases | AHNAKRS, desmoyokin, PM227 |
Description
AHNAK (AHNAK nucleoprotein) is a large scaffold protein encoded by the AHNAK gene located on chromosome 11q12.3. It is involved in diverse cellular processes including cell membrane architecture, calcium signaling, and cell migration. AHNAK is also known as desmoyokin and is expressed in many tissues, with highest levels in heart and brain. The gene produces multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | AHNAK mutations disrupt cardiac myocyte membrane integrity and calcium handling | ClinVar, OMIM |
| Breast cancer | AHNAK overexpression correlates with poor prognosis and metastasis | COSMIC, NCBI |
| Colorectal cancer | AHNAK downregulation associated with tumor progression | COSMIC, NCBI |
| Schizophrenia | AHNAK variants implicated in synaptic dysfunction | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Brain | 38.1 | High |
| Lung | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 15.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | High expression |
| HeLa | 28.5 | High expression |
| MCF7 | 22.3 | Moderate expression |
| A549 | 18.9 | Moderate expression |
| HepG2 | 10.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; altered protein stability |
| c.4567_4568del | Frameshift | 0.005% | Loss of function; truncated protein |
| c.7890G>A | Nonsense | 0.002% | p.Trp2630*; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated AHNAK protein, impairing membrane scaffolding and calcium signaling.
Gain of Function (GOF)
Not well documented; some missense variants may enhance protein interactions in cancer.
Dominant Negative (DN)
Not reported for AHNAK.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005886 (plasma membrane) |
| • GO:0005509 (calcium ion binding) | • GO:0030054 (cell junction) |
| • GO:0007155 (cell adhesion) |
Pathways
• Calcium signaling pathway (Reactome: R-HSA-397014)
• Cell junction organization (Reactome: R-HSA-446728)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
AHNAK is a large 700 kDa scaffold protein predominantly expressed in cardiac and neural tissues. It localizes to the plasma membrane and cell junctions, where it interacts with calcium channels and cytoskeletal elements. AHNAK regulates calcium homeostasis, cell migration, and membrane repair. Its dysregulation is linked to dilated cardiomyopathy and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHNAK2 Knockout HEK293 Cell Line | EDJ-KQ2498 | Human | 113146 | Details Get a Quote |
| AHNAK Knockout HEK293 Cell Line | EDJ-KQ12039 | Human | 79026 | Details Get a Quote |
| AHNAK2 Knockout HCT 116 Cell Line | EDJ-KQ23092 | Human | 113146 | Details Get a Quote |
| AHNAK2 Knockout A-549 Cell Line | EDJ-KQ18223 | Human | 113146 | Details Get a Quote |
| AHNAK2 Knockout HeLa Cell Line | EDJ-KQ21730 | Human | 113146 | Details Get a Quote |
| AHNAK Knockout A-549 Cell Line | EDJ-KQ40664 | Human | 79026 | Details Get a Quote |
| AHNAK Knockout HCT 116 Cell Line | EDJ-KQ40665 | Human | 79026 | Details Get a Quote |
| AHNAK Knockout HeLa Cell Line | EDJ-KQ40666 | Human | 79026 | Details Get a Quote |
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