ANKRD50
Ankyrin Repeat Domain 50
Gene Information Card
| Symbol | ANKRD50 |
|---|---|
| Full Name | Ankyrin Repeat Domain 50 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 57150 ncbi.nlm.nih.gov/gene/57150 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9H6Z4 |
| OMIM ID | 617472 |
| HGNC ID | 25827 |
| Aliases | FLJ10707, MGC138204 |
Description
ANKRD50 (Ankyrin Repeat Domain 50) is a protein-coding gene located on chromosome 4q28.1. It encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. The function of ANKRD50 is not fully characterized, but it may play a role in cellular signaling or structural organization. Expression data suggest broad tissue distribution.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.8 | Low |
| Colon | 4.1 | Low |
| Heart | 2.9 | Low |
| Kidney | 6.0 | Medium |
| Liver | 3.5 | Low |
| Lung | 4.7 | Low |
| Muscle | 2.1 | Low |
| Ovary | 5.5 | Medium |
| Pancreas | 3.0 | Low |
| Prostate | 4.3 | Low |
| Skin | 3.6 | Low |
| Small intestine | 5.8 | Medium |
| Spleen | 4.0 | Low |
| Stomach | 4.9 | Low |
| Testis | 7.2 | Medium |
| Thyroid | 3.4 | Low |
| Urinary bladder | 4.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Medium expression |
| HeLa | 4.8 | Low expression |
| K562 | 3.2 | Low expression |
| MCF7 | 5.1 | Medium expression |
| SH-SY5Y | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.567G>A (p.Trp189*) | Nonsense | <0.001% (gnomAD) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Trp189* likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Protein binding (GO:0005515) |
Pathways
• No curated pathways
Protein Summary
The ANKRD50 protein contains ankyrin repeats, which are common motifs mediating protein-protein interactions. Its exact cellular function remains unclear, but it is expressed in various tissues at low to medium levels. No disease associations have been established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD50 Knockout HEK293 Cell Line | EDJ-KQ12372 | Human | 57182 | Details Get a Quote |
| ANKRD50 Knockout A-549 Cell Line | EDJ-KQ41234 | Human | 57182 | Details Get a Quote |
| ANKRD50 Knockout HCT 116 Cell Line | EDJ-KQ41235 | Human | 57182 | Details Get a Quote |
| ANKRD50 Knockout HeLa Cell Line | EDJ-KQ41236 | Human | 57182 | Details Get a Quote |
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