ANKRD34B Gene
Ankyrin Repeat Domain 34B
Gene Information Card
| Symbol | ANKRD34B |
|---|---|
| Full Name | Ankyrin Repeat Domain 34B |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 340120 ncbi.nlm.nih.gov/gene/340120 |
| Ensembl ID | ENSG00000164306 |
| UniProt ID | Q6P4S8 |
| OMIM ID | 615940 |
| HGNC ID | 26789 |
| Aliases | ANKRD34, FLJ32786 |
Description
ANKRD34B (Ankyrin Repeat Domain 34B) is a protein-coding gene located on chromosome 5q35.3. The encoded protein contains ankyrin repeat domains, which are involved in protein-protein interactions. The specific function of ANKRD34B is not fully characterized, but it is predicted to play a role in cellular signaling and structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.4 | Low |
| Brain | 0.2 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.3 | Low expression |
| K562 | 0.1 | Low expression |
| HeLa | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
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：
Protein Summary
The ANKRD34B protein (UniProt Q6P4S8) contains ankyrin repeat domains, which mediate protein-protein interactions. Its exact biological function remains unclear, and no significant disease associations have been established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD34B Knockout HEK293 Cell Line | EDJ-KQ12363 | Human | 340120 | Details Get a Quote |
| ANKRD34B Knockout HeLa Cell Line | EDJ-KQ59666 | Human | 340120 | Details Get a Quote |
| ANKRD34B Knockout A-549 Cell Line | EDJ-KQ68137 | Human | 340120 | Details Get a Quote |
| ANKRD34B Knockout HCT 116 Cell Line | EDJ-KQ76514 | Human | 340120 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
