ANKAR: Ankyrin and Armadillo Repeat Containing Protein
A gene encoding a protein with ankyrin and armadillo repeats, involved in cellular signaling and structural organization.
Gene Information Card
| Symbol | ANKAR |
|---|---|
| Full Name | Ankyrin and Armadillo Repeat Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 150209 ncbi.nlm.nih.gov/gene/150209 |
| Ensembl ID | ENSG00000162992 |
| UniProt ID | Q5T7N2 |
| OMIM ID | 615966 |
| HGNC ID | 29343 |
| Aliases | ANKRD60, FLJ32709 |
Description
ANKAR (Ankyrin and Armadillo Repeat Containing) is a protein-coding gene located on chromosome 2q32.1. The encoded protein contains ankyrin repeats and armadillo repeats, which are typically involved in protein-protein interactions and cellular signaling. ANKAR is expressed in various tissues and may play a role in cell structure and signal transduction. Limited functional data are available; further research is needed to elucidate its precise biological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| HeLa | 3.8 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • ['GO:0005515' | • 'protein binding'] |
| • ['GO:0005737' | • 'cytoplasm'] |
Protein Summary
The ANKAR protein (UniProt Q5T7N2) contains ankyrin repeats and armadillo repeats, suggesting a role in mediating protein-protein interactions. It is predicted to localize to the cytoplasm. The exact function remains poorly characterized, and no specific pathways or disease associations have been firmly established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKAR Knockout HEK293 Cell Line | EDJ-KQ11309 | Human | 150709 | Details Get a Quote |
| ANKAR Knockout A-549 Cell Line | EDJ-KQ39442 | Human | 150709 | Details Get a Quote |
| ANKAR Knockout HeLa Cell Line | EDJ-KQ39443 | Human | 150709 | Details Get a Quote |
| ANKAR Knockout HCT 116 Cell Line | EDJ-KQ75557 | Human | 150709 | Details Get a Quote |
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