ANKRD30B Gene - Ankyrin Repeat Domain 30B
Comprehensive genomic and functional overview of ANKRD30B, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | ANKRD30B |
|---|---|
| Full Name | Ankyrin Repeat Domain 30B |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 374860 ncbi.nlm.nih.gov/gene/374860 |
| Ensembl ID | ENSG00000186188 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 613326 |
| HGNC ID | 26782 |
| Aliases | NY-BR-1.1, MGC15606 |
Description
ANKRD30B (ankyrin repeat domain 30B) is a protein-coding gene located on chromosome 18p11.21. It encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. ANKRD30B is known to be expressed in breast tissue and is associated with breast cancer, where it may act as a tumor antigen. The gene is also referred to as NY-BR-1.1.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of ANKRD30B (NY-BR-1.1) is reported as a tumor antigen; immune response may contribute to tumor surveillance. | PMID: 15601830; NCBI Gene |
| Prostate Cancer | Expression of ANKRD30B has been detected in prostate cancer cell lines, suggesting potential role as a cancer/testis antigen. | PMID: 16912190; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Prostate | 5.1 | Low |
| Skin | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| LNCaP (prostate cancer) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Truncation, likely loss of function |
| c.567G>A (p.Val189Met) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Arg412* likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ankyrin repeat binding (GO:0005515) |
Pathways
• No curated pathway associations
Protein Summary
The ANKRD30B protein (UniProt Q6ZP29) contains multiple ankyrin repeats and is localized to the cytoplasm. It is expressed predominantly in breast and testis tissues. The protein may function as a tumor antigen in breast cancer, eliciting humoral and cellular immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD30B Knockout HEK293 Cell Line | EDJ-KQ12358 | Human | 374860 | Details Get a Quote |
| ANKRD30BL Knockout HEK293 Cell Line | EDJ-KQ12359 | Human | 554226 | Details Get a Quote |
| ANKRD30B Knockout HeLa Cell Line | EDJ-KQ59901 | Human | 374860 | Details Get a Quote |
| ANKRD30B Knockout A-549 Cell Line | EDJ-KQ68363 | Human | 374860 | Details Get a Quote |
| ANKRD30B Knockout HCT 116 Cell Line | EDJ-KQ76739 | Human | 374860 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
