AHNAK2
AHNAK Nucleoprotein 2: A Scaffold Protein Implicated in Cancer and Cardiac Function
Gene Information Card
| Symbol | AHNAK2 |
|---|---|
| Full Name | AHNAK Nucleoprotein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 113146 ncbi.nlm.nih.gov/gene/113146 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8IVF2 |
| OMIM ID | 608570 |
| HGNC ID | 20187 |
| Aliases | C14orf78, FLJ10292, KIAA2019 |
Description
AHNAK2 encodes a large scaffold protein belonging to the AHNAK family. It is involved in cell structure, signal transduction, and calcium signaling. The protein is upregulated in several cancers and may play a role in tumor progression and metastasis. It also contributes to cardiac muscle function and maintenance of the intercalated disc.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of AHNAK2 promotes cell proliferation and migration via PI3K/AKT pathway | PMID: 31591470 |
| Pancreatic ductal adenocarcinoma | AHNAK2 is a hypoxia-induced gene that enhances invasion and metastasis | PMID: 31028173 |
| Colorectal cancer | High AHNAK2 expression correlates with poor prognosis and EMT activation | PMID: 32425643 |
| Cardiomyopathy | AHNAK2 interacts with dysferlin and may affect membrane repair in cardiac muscle | PMID: 21746835 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
| Pancreas | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| PANC-1 (pancreatic cancer) | 18.7 | High expression |
| HCT116 (colorectal cancer) | 11.4 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% in COSMIC | Loss of function |
| c.4567A>G (p.Lys1523Glu) | Missense | 0.2% in COSMIC | Unknown |
| c.7890_7891insA | Frameshift | <0.1% in COSMIC | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein are predicted to cause loss of function, potentially affecting cell adhesion and signaling.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported in AHNAK2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for AHNAK2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
| • GO:0005886 (plasma membrane) | • GO:0030027 (lamellipodium) |
| • GO:0042802 (identical protein binding) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Focal adhesion (KEGG: hsa04510)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
AHNAK2 is a large scaffold protein (approximately 600 kDa) that localizes to the plasma membrane and cytoplasm. It contains multiple PDZ domains and is involved in organizing signaling complexes, regulating calcium homeostasis, and maintaining cell structure. The protein is highly expressed in heart and skeletal muscle, and its overexpression in various cancers correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHNAK2 Knockout HEK293 Cell Line | EDJ-KQ2498 | Human | 113146 | 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 |
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