ANK2: Ankyrin 2 – Key Insights into Cardiac and Neuronal Function
Comprehensive gene card for ANK2, including expression, mutations, and associated diseases
Gene Information Card
| Symbol | ANK2 |
|---|---|
| Full Name | Ankyrin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25-q26 |
| NCBI Gene ID | 287 ncbi.nlm.nih.gov/gene/287 |
| Ensembl ID | ENSG00000145362 |
| UniProt ID | Q01484 |
| OMIM ID | 106410 |
| HGNC ID | 493 |
| Aliases | ANK-2, ankyrin-B, brank-2 |
Description
ANK2 encodes ankyrin 2 (ankyrin-B), a member of the ankyrin family that links integral membrane proteins to the spectrin-actin cytoskeleton. It is essential for the proper localization and function of ion channels, transporters, and cell adhesion molecules in cardiac myocytes and neurons. Mutations in ANK2 are associated with cardiac arrhythmias, including long QT syndrome type 4 and sinus node dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT syndrome 4 (LQT4) | Loss-of-function mutations disrupt ankyrin-B-mediated targeting of ion channels (e.g., Na+/K+ ATPase, Na+/Ca2+ exchanger), leading to prolonged cardiac repolarization. | ClinVar, OMIM |
| Sinus node dysfunction | Defective ankyrin-B impairs sinoatrial node pacemaker function, causing bradycardia and arrhythmia. | OMIM, PubMed |
| Cardiac arrhythmia, ankyrin-B-related | Mutations in ANK2 alter ion channel clustering, increasing susceptibility to ventricular tachycardia and sudden cardiac death. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Brain | 28.7 | Medium |
| Skeletal muscle | 12.3 | Medium |
| Liver | 3.1 | Low |
| Kidney | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 52.0 | High expression; relevant for cardiac function studies |
| SH-SY5Y (neuroblastoma) | 30.5 | Medium expression; neuronal model |
| HEK293 | 15.2 | Low expression; common for recombinant studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4270C>T (p.Arg1424*) | Nonsense | Rare | Loss of function; truncation of ankyrin-B; associated with LQT4 |
| c.5350G>A (p.Glu1784Lys) | Missense | Rare | Dominant-negative effect; disrupts ion channel binding |
| c.1096_1098del (p.Glu366del) | In-frame deletion | Rare | Loss of function; impairs ankyrin-B stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg1424*) lead to truncated or unstable ankyrin-B, reducing its ability to scaffold ion channels.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ANK2.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu1784Lys) can interfere with wild-type ankyrin-B function, causing dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton organization | • ion channel localization |
| • protein binding | • spectrin binding |
| • cell adhesion |
Pathways
• Ankyrin-mediated ion channel targeting
• Cardiac conduction
• Cytoskeletal signaling
Protein Summary
Ankyrin 2 (ankyrin-B) is a 220 kDa scaffold protein that anchors ion channels, transporters, and cell adhesion molecules to the spectrin-actin cytoskeleton. It is highly expressed in cardiac muscle and brain, where it regulates membrane excitability and signal transduction. Mutations in ANK2 cause ankyrin-B syndrome, characterized by cardiac arrhythmias and neurological deficits.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHANK2 Knockout HEK293 Cell Line | EDJ-KQ500 | Human | 22941 | Details Get a Quote |
| ANK2 Knockout HEK293 Cell Line | EDJ-KQ2889 | Human | 287 | Details Get a Quote |
| KANK2 Knockout HEK293 Cell Line | EDJ-KQ8321 | Human | 25959 | Details Get a Quote |
| PANK2 Knockout HEK293 Cell Line | EDJ-KQ9431 | Human | 80025 | Details Get a Quote |
| SHANK2 Knockout A-549 Cell Line | EDJ-KQ20158 | Human | 22941 | Details Get a Quote |
| SHANK2 Knockout HCT 116 Cell Line | EDJ-KQ20159 | Human | 22941 | Details Get a Quote |
| ANK2 Knockout A-549 Cell Line | EDJ-KQ23959 | Human | 287 | Details Get a Quote |
| ANK2 Knockout HCT 116 Cell Line | EDJ-KQ23960 | Human | 287 | Details Get a Quote |
| PANK2 Knockout A-549 Cell Line | EDJ-KQ36102 | Human | 80025 | Details Get a Quote |
| PANK2 Knockout HCT 116 Cell Line | EDJ-KQ36103 | Human | 80025 | Details Get a Quote |
| PANK2 Knockout HeLa Cell Line | EDJ-KQ36104 | Human | 80025 | Details Get a Quote |
| KANK2 Knockout A-549 Cell Line | EDJ-KQ34310 | Human | 25959 | Details Get a Quote |
| KANK2 Knockout HCT 116 Cell Line | EDJ-KQ34311 | Human | 25959 | Details Get a Quote |
| KANK2 Knockout HeLa Cell Line | EDJ-KQ34312 | Human | 25959 | Details Get a Quote |
| ANK2 Knockout HeLa Cell Line | EDJ-KQ52620 | Human | 287 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
