DZANK1 Gene: Structure, Function, and Clinical Significance
Comprehensive overview of the DZANK1 gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | DZANK1 |
|---|---|
| Full Name | Double Zinc Ribbon and Ankyrin Repeat Domains 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 340075 ncbi.nlm.nih.gov/gene/340075 |
| Ensembl ID | ENSG00000125871 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 617026 |
| HGNC ID | 28296 |
| Aliases | C20orf12, dJ1181N3.1 |
Description
DZANK1 encodes a protein containing double zinc ribbon and ankyrin repeat domains. The exact function is not fully characterized, but it is predicted to be involved in protein-protein interactions and possibly in cellular signaling or structural roles. The gene is located on chromosome 20p11.23 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence in ClinVar or OMIM for disease-causing mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| A549 | 5.6 | Low expression |
| MCF7 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No common variants | Not applicable | Not applicable | No significant mutation data available. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in DZANK1.
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 | • zinc ion binding |
| • ankyrin repeat binding |
Pathways
• No known pathways
Protein Summary
The DZANK1 protein is predicted to contain ankyrin repeats and zinc ribbon domains, suggesting a role in protein-protein interactions and possibly nucleic acid binding. Its function is largely uncharacterized, and no clear disease association has been established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DZANK1 Knockout HEK293 Cell Line | EDJ-KQ13242 | Human | 55184 | Details Get a Quote |
| DZANK1 Knockout A-549 Cell Line | EDJ-KQ42630 | Human | 55184 | Details Get a Quote |
| DZANK1 Knockout HCT 116 Cell Line | EDJ-KQ42631 | Human | 55184 | Details Get a Quote |
| DZANK1 Knockout HeLa Cell Line | EDJ-KQ42632 | Human | 55184 | Details Get a Quote |
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