ANKRD13B Gene - Ankyrin Repeat Domain 13B
Comprehensive genomic and functional overview of ANKRD13B
Gene Information Card
| Symbol | ANKRD13B |
|---|---|
| Full Name | Ankyrin Repeat Domain 13B |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 124535 ncbi.nlm.nih.gov/gene/124535 |
| Ensembl ID | ENSG00000198720 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 615937 |
| HGNC ID | 26327 |
| Aliases | FLJ32709, MGC35130 |
Description
ANKRD13B encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. The gene is located on chromosome 17q21.31 and is expressed in various tissues. Its function is not fully characterized but may play a role in cellular signaling or structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown |
| c.567delC | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to loss of function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
Pathways
• No curated pathways available
Protein Summary
ANKRD13B is a 612-amino acid protein containing ankyrin repeats. It is localized in the cytoplasm and may participate in protein-protein interactions. Its precise biological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD13B Knockout HEK293 Cell Line | EDJ-KQ8662 | Human | 124930 | Details Get a Quote |
| ANKRD13B Knockout HeLa Cell Line | EDJ-KQ33563 | Human | 124930 | Details Get a Quote |
| ANKRD13B Knockout A-549 Cell Line | EDJ-KQ34834 | Human | 124930 | Details Get a Quote |
| ANKRD13B Knockout HCT 116 Cell Line | EDJ-KQ34835 | Human | 124930 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
