ANKRD46
Ankyrin Repeat Domain 46
Gene Information Card
| Symbol | ANKRD46 |
|---|---|
| Full Name | Ankyrin Repeat Domain 46 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 157567 ncbi.nlm.nih.gov/gene/157567 |
| Ensembl ID | ENSG00000147400 |
| UniProt ID | Q8N4L2 |
| OMIM ID | 617026 |
| HGNC ID | 26299 |
| Aliases | FLJ10707, MGC138290 |
Description
ANKRD46 (Ankyrin Repeat Domain 46) is a protein-coding gene located on chromosome 8q22.1. The encoded protein contains ankyrin repeats, which mediate protein-protein interactions. ANKRD46 is involved in cellular signaling and has been implicated in cancer and other diseases. Expression data from GTEx and other sources indicate broad tissue expression with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote tumor growth; ankyrin repeats involved in signaling | PMID: 25691885 |
| Prostate cancer | Upregulation associated with poor prognosis | PMID: 27387371 |
| Hepatocellular carcinoma | Altered expression linked to metastasis | PMID: 29511315 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 10.8 | Medium |
| Lung | 5.2 | Low |
| Liver | 3.1 | Low |
| Heart | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Embryonic kidney |
| HeLa | 6.4 | Cervical cancer |
| MCF7 | 9.1 | Breast cancer |
| HepG2 | 4.2 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | <0.01% | Unknown functional impact |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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 |
| • cytoplasm | • nucleus |
Pathways
• No curated pathway annotations in Reactome or KEGG for ANKRD46.
Protein Summary
The ANKRD46 protein (UniProt Q8N4L2) contains multiple ankyrin repeats, which are 33-residue motifs that mediate protein-protein interactions. It is localized in the cytoplasm and nucleus, and is thought to participate in signal transduction. The protein is 460 amino acids long with a molecular weight of approximately 50 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD46 Knockout HEK293 Cell Line | EDJ-KQ12370 | Human | 157567 | Details Get a Quote |
| ANKRD46 Knockout A-549 Cell Line | EDJ-KQ41229 | Human | 157567 | Details Get a Quote |
| ANKRD46 Knockout HCT 116 Cell Line | EDJ-KQ41230 | Human | 157567 | Details Get a Quote |
| ANKRD46 Knockout HeLa Cell Line | EDJ-KQ41231 | Human | 157567 | Details Get a Quote |
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