ANKRA2
Ankyrin Repeat Family A Member 2
Gene Information Card
| Symbol | ANKRA2 |
|---|---|
| Full Name | Ankyrin Repeat Family A Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q12.3 |
| NCBI Gene ID | 57763 ncbi.nlm.nih.gov/gene/57763 |
| Ensembl ID | ENSG00000164362 |
| UniProt ID | Q9H9E1 |
| OMIM ID | 610919 |
| HGNC ID | 29089 |
| Aliases | ANKRA, RFXANK-like, ANKRD52 |
Description
ANKRA2 (Ankyrin Repeat Family A Member 2) is a protein-coding gene located on chromosome 5q12.3. The encoded protein contains ankyrin repeats and is involved in transcriptional regulation through interaction with transcription factors such as RFX5. It may play a role in immune response and cell signaling. The gene is broadly expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bare lymphocyte syndrome type II (putative) | ANKRA2 interacts with RFX5, a key regulator of MHC class II expression; disruption may impair antigen presentation | Limited; inferred from homology to RFXANK |
| Cancer (general) | Altered expression may affect transcriptional programs; specific mechanism unclear | Low; expression data from COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 16.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 9.8 | Moderate expression |
| A549 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1022A>G (p.Gln341Arg) | Missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • transcription regulator activity |
| • ankyrin repeat binding | • cytoplasm |
| • nucleus |
Pathways
• MHC class II transcription (RFX complex)
Protein Summary
ANKRA2 encodes a 45 kDa protein with multiple ankyrin repeats. It localizes to both cytoplasm and nucleus and interacts with RFX5, a subunit of the RFX transcription factor complex that regulates MHC class II gene expression. The protein may also participate in other protein-protein interactions via its ankyrin domains.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRA2 Knockout HEK293 Cell Line | EDJ-KQ12118 | Human | 57763 | Details Get a Quote |
| ANKRA2 Knockout A-549 Cell Line | EDJ-KQ40803 | Human | 57763 | Details Get a Quote |
| ANKRA2 Knockout HCT 116 Cell Line | EDJ-KQ40804 | Human | 57763 | Details Get a Quote |
| ANKRA2 Knockout HeLa Cell Line | EDJ-KQ40805 | Human | 57763 | Details Get a Quote |
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