ANKS4B
Ankyrin Repeat and Sterile Alpha Motif Domain Containing 4B
Gene Information Card
| Symbol | ANKS4B |
|---|---|
| Full Name | Ankyrin Repeat and Sterile Alpha Motif Domain Containing 4B |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 150248 ncbi.nlm.nih.gov/gene/150248 |
| Ensembl ID | ENSG00000161921 |
| UniProt ID | Q8N8Z0 |
| OMIM ID | 615956 |
| HGNC ID | 26773 |
| Aliases | DKFZp686A01247, FLJ32670, MGC138290 |
Description
ANKS4B encodes a protein containing ankyrin repeats and a sterile alpha motif (SAM) domain, suggesting a role in protein-protein interactions and signal transduction. The gene is located on chromosome 16p13.3 and is expressed in various tissues, with notable levels in the kidney and testis.
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 |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Liver | 5.1 | Low |
| Lung | 3.2 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 7.8 | Medium expression |
| HepG2 | 4.5 | Low expression |
| A549 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transduction |
Pathways
• No specific pathways annotated
Protein Summary
The ANKS4B protein contains ankyrin repeats and a SAM domain, which are typical of proteins involved in scaffolding and signaling complexes. Its exact function remains uncharacterized, but it may participate in cellular signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKS4B Knockout HEK293 Cell Line | EDJ-KQ11870 | Human | 257629 | Details Get a Quote |
| ANKS4B Knockout A-549 Cell Line | EDJ-KQ40300 | Human | 257629 | Details Get a Quote |
| ANKS4B Knockout HeLa Cell Line | EDJ-KQ59329 | Human | 257629 | Details Get a Quote |
| ANKS4B Knockout HCT 116 Cell Line | EDJ-KQ76176 | Human | 257629 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
