ANKRD49
Ankyrin Repeat Domain 49
Gene Information Card
| Symbol | ANKRD49 |
|---|---|
| Full Name | Ankyrin Repeat Domain 49 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 54883 ncbi.nlm.nih.gov/gene/54883 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q8N7W2 |
| OMIM ID | 617066 |
| HGNC ID | 28640 |
| Aliases | FLJ10707, MGC12966 |
Description
ANKRD49 (Ankyrin Repeat Domain 49) is a protein-coding gene located on chromosome 11q24.2. The encoded protein contains ankyrin repeats, which are common motifs mediating protein-protein interactions. ANKRD49 is involved in cellular processes such as transcriptional regulation and cell cycle control. Its expression is observed in various tissues, and alterations have been linked to certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote cell proliferation | PMID: 25636840 |
| Prostate cancer | Upregulation associated with tumor progression | PMID: 27323851 |
| Hepatocellular carcinoma | Potential oncogenic role via cell cycle regulation | PMID: 29351298 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Adrenal gland | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.3 | Moderate expression |
| MCF7 | 9.7 | Moderate expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown functional impact |
| c.622G>A (p.Gly208Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005634 (nucleus) |
| • GO:0005737 (cytoplasm) | • GO:0046872 (metal ion binding) |
Pathways
• Not assigned to any KEGG or Reactome pathway
Protein Summary
The ANKRD49 protein (UniProt Q8N7W2) contains ankyrin repeats and localizes to the nucleus and cytoplasm. It is thought to participate in protein-protein interactions that regulate transcription and cell proliferation. The protein is 332 amino acids long with a molecular mass of approximately 37 kDa.
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