ANKRD22 (Ankyrin Repeat Domain 22)
A protein-coding gene involved in immune response and tumor progression, with potential as a biomarker in various cancers.
Gene Information Card
| Symbol | ANKRD22 |
|---|---|
| Full Name | Ankyrin Repeat Domain 22 |
| Gene Type | protein coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 118932 ncbi.nlm.nih.gov/gene/118932 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | Q5VYY1 |
| OMIM ID | 616880 |
| HGNC ID | 29029 |
| Aliases | FLJ20059, MGC126851 |
Description
ANKRD22 encodes a protein containing ankyrin repeats, which are known to mediate protein-protein interactions. The gene is located on chromosome 10q23.31 and is expressed in various tissues, with notable upregulation in certain cancers and immune cells. ANKRD22 has been implicated in tumor progression, immune response, and may serve as a prognostic biomarker.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression promotes cell proliferation and invasion; associated with poor prognosis. | Expression analysis in clinical samples and in vitro studies (PMID: 29393417) |
| Lung Cancer | Upregulated in non-small cell lung cancer; enhances tumor growth and metastasis. | Gene expression profiling and functional assays (PMID: 30131779) |
| Gastric Cancer | High expression correlates with advanced stage and lymph node metastasis. | Immunohistochemistry and survival analysis (PMID: 30560871) |
| Colorectal Cancer | Overexpression linked to increased cell migration and epithelial-mesenchymal transition. | In vitro and in vivo studies (PMID: 31265162) |
| Hepatocellular Carcinoma | Upregulation associated with poor survival; promotes cell cycle progression. | Bioinformatics and functional validation (PMID: 31572589) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.3 | Medium |
| Spleen | 8.7 | Low |
| Lung | 6.5 | Low |
| Breast | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 15.2 | High expression compared to normal breast cells |
| A549 (Lung cancer) | 12.8 | Elevated expression |
| HCT116 (Colorectal cancer) | 10.5 | Moderate expression |
| HepG2 (Liver cancer) | 8.9 | Moderate expression |
| K562 (Leukemia) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.467C>T (p.Pro156Leu) | Missense | 0.01% (gnomAD) | Unknown; likely benign |
| c.112G>A (p.Gly38Arg) | Missense | 0.005% (gnomAD) | Unknown; possibly damaging (in silico) |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Predicted loss-of-function; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to result in loss of function, potentially reducing tumor suppressive activity if ANKRD22 acts as a tumor suppressor in some contexts.
Gain of Function (GOF)
Missense mutations in the ankyrin repeat domain may alter protein-protein interactions, potentially leading to gain-of-function effects that promote oncogenic signaling.
Dominant Negative (DN)
No evidence currently available for dominant-negative effects of ANKRD22 mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ankyrin repeat |
| • cytoplasm | • nucleus |
| • signal transduction | • cell proliferation |
| • cell migration | • immune response |
Pathways
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• Wnt signaling pathway
• Epithelial-mesenchymal transition
• Immune system process
Protein Summary
The ANKRD22 protein is a 342-amino acid protein with multiple ankyrin repeats, which are involved in protein-protein interactions. It is localized in the cytoplasm and nucleus, and participates in signaling pathways that regulate cell proliferation, migration, and immune responses. Its expression is often dysregulated in cancers, where it can promote tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD22 Knockout HEK293 Cell Line | EDJ-KQ3470 | Human | 118932 | Details Get a Quote |
| ANKRD22 Knockout HCT 116 Cell Line | EDJ-KQ25231 | Human | 118932 | Details Get a Quote |
| ANKRD22 Knockout HeLa Cell Line | EDJ-KQ58034 | Human | 118932 | Details Get a Quote |
| ANKRD22 Knockout A-549 Cell Line | EDJ-KQ66521 | Human | 118932 | Details Get a Quote |
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