ANKRD26 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the ANKRD26 gene, its protein product, associated diseases, expression patterns, and mutational landscape.
Gene Information Card
| Symbol | ANKRD26 |
|---|---|
| Full Name | Ankyrin Repeat Domain 26 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 57211 ncbi.nlm.nih.gov/gene/57211 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | Q9P2X0 |
| OMIM ID | 610855 |
| HGNC ID | 29186 |
| Aliases | bA145E17.1, MGC126562, MGC126564 |
Description
The ANKRD26 gene encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. It is located on chromosome 10p12.1 and is expressed in various tissues. Mutations in ANKRD26 are primarily associated with autosomal dominant thrombocytopenia (THC2), characterized by low platelet counts and a predisposition to leukemia. The protein is thought to play a role in hematopoiesis and megakaryocyte differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombocytopenia 2 (THC2) | Missense mutations in the 5' untranslated region (UTR) of ANKRD26 lead to increased ANKRD26 expression, which disrupts megakaryocyte differentiation and platelet production. | ClinVar, OMIM |
| Myeloproliferative neoplasms | Germline ANKRD26 mutations are associated with a predisposition to myeloid malignancies, including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). | OMIM, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High | High expression in hematopoietic tissues |
| Spleen | Medium | Moderate expression |
| Lymph Node | Medium | Moderate expression |
| Liver | Low | Low expression |
| Brain | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | High | Chronic myeloid leukemia cell line |
| HEK293 (embryonic kidney) | Medium | Commonly used cell line |
| HeLa (cervical cancer) | Low | Low expression |
| MCF7 (breast cancer) | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.-118C>T | 5' UTR variant | Found in THC2 families | Increases ANKRD26 expression |
| c.-127A>G | 5' UTR variant | Found in THC2 families | Increases ANKRD26 expression |
| c.-134G>A | 5' UTR variant | Found in THC2 families | Increases ANKRD26 expression |
| c.-140C>G | 5' UTR variant | Found in THC2 families | Increases ANKRD26 expression |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; loss-of-function mutations are not a major mechanism for ANKRD26-related diseases.
Gain of Function (GOF)
5' UTR mutations are gain-of-function, leading to overexpression of ANKRD26, which impairs megakaryocyte differentiation.
Dominant Negative (DN)
Not reported for ANKRD26.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ankyrin repeat binding |
| • cytoplasm | • nucleus |
| • regulation of megakaryocyte differentiation |
Pathways
• Megakaryocyte differentiation
• Hematopoiesis
• MAPK signaling pathway (potential involvement)
Protein Summary
The ANKRD26 protein contains ankyrin repeats, which are common motifs for protein-protein interactions. It is localized in the cytoplasm and nucleus. The protein is involved in the regulation of hematopoiesis, particularly megakaryocyte differentiation. Overexpression of ANKRD26 due to 5' UTR mutations disrupts this process, leading to thrombocytopenia and increased risk of leukemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD26 Knockout HEK293 Cell Line | EDJ-KQ7694 | Human | 22852 | Details Get a Quote |
| ANKRD26 Knockout HCT 116 Cell Line | EDJ-KQ33066 | Human | 22852 | Details Get a Quote |
| ANKRD26 Knockout HeLa Cell Line | EDJ-KQ33067 | Human | 22852 | Details Get a Quote |
| ANKRD26 Knockout A-549 Cell Line | EDJ-KQ31742 | Human | 22852 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
