ANKRD55
Ankyrin Repeat Domain 55: A Gene Implicated in Autoimmune and Inflammatory Diseases
Gene Information Card
| Symbol | ANKRD55 |
|---|---|
| Full Name | Ankyrin Repeat Domain 55 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 79722 ncbi.nlm.nih.gov/gene/79722 |
| Ensembl ID | ENSG00000164512 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 615892 |
| HGNC ID | 26481 |
| Aliases | FLJ20291, MGC131831 |
Description
ANKRD55 encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. The gene is expressed in various tissues and has been associated with susceptibility to autoimmune diseases, including rheumatoid arthritis and multiple sclerosis. Its exact biological function remains under investigation, but it is thought to play a role in immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | Genetic association; risk variants in ANKRD55 linked to increased susceptibility | GWAS studies (Okada et al., 2014; Stahl et al., 2010) |
| Multiple Sclerosis | Genetic association; ANKRD55 variants contribute to disease risk | GWAS studies (International Multiple Sclerosis Genetics Consortium, 2011) |
| Type 1 Diabetes | Potential association; ANKRD55 locus implicated in autoimmune diabetes | GWAS studies (Barrett et al., 2009) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 8.2 | Medium |
| Lymph node | 6.5 | Medium |
| Whole blood | 3.1 | Low |
| Lung | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 4.3 | Leukemia cell line |
| HEK 293 | 2.1 | Embryonic kidney cells |
| HeLa | 1.8 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs7731626 | SNP | 0.25 (European) | Intronic variant; associated with rheumatoid arthritis risk |
| rs6859219 | SNP | 0.20 (European) | Intronic variant; associated with multiple sclerosis risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ANKRD55.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ankyrin repeat binding |
Pathways
• No specific pathways curated for ANKRD55 in major databases.
Protein Summary
The ANKRD55 protein contains ankyrin repeats, which are common motifs mediating protein-protein interactions. Its precise molecular function is not fully characterized, but it is hypothesized to participate in immune cell signaling based on expression patterns and genetic associations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD55 Knockout HEK293 Cell Line | EDJ-KQ11629 | Human | 79722 | Details Get a Quote |
| ANKRD55 Knockout HeLa Cell Line | EDJ-KQ57211 | Human | 79722 | Details Get a Quote |
| ANKRD55 Knockout A-549 Cell Line | EDJ-KQ65726 | Human | 79722 | Details Get a Quote |
| ANKRD55 Knockout HCT 116 Cell Line | EDJ-KQ74143 | Human | 79722 | Details Get a Quote |
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