DAZAP2
DAZ Associated Protein 2
Gene Information Card
| Symbol | DAZAP2 |
|---|---|
| Full Name | DAZ associated protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 9802 ncbi.nlm.nih.gov/gene/9802 |
| Ensembl ID | ENSG00000183283 |
| UniProt ID | Q9Y6H1 |
| OMIM ID | 607413 |
| HGNC ID | 2681 |
| Aliases | PRTB |
Description
DAZAP2 (DAZ associated protein 2) is a protein-coding gene located on chromosome 12q13.13. It encodes a protein that interacts with the DAZ (Deleted in Azoospermia) protein family, which is essential for spermatogenesis. DAZAP2 is also known as PRTB (proline-rich transcript, brain-expressed). The gene is widely expressed in various tissues and has been implicated in multiple myeloma and other cancers through its role in signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | DAZAP2 is a target of recurrent translocations and deletions in multiple myeloma, leading to altered expression and contribution to oncogenesis. | ClinVar, COSMIC |
| Spermatogenic Failure | DAZAP2 interacts with DAZ proteins; disruption may impair spermatogenesis, though direct evidence in humans is limited. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.0 | Leukemia cell line |
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown significance |
| c.100C>T | missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • spermatogenesis |
| • cytoplasm | • nucleus |
Pathways
• DAZAP2 interacts with DAZ proteins in spermatogenesis
• Potential involvement in TGF-beta signaling
Protein Summary
DAZAP2 encodes a 167-amino acid protein that contains a proline-rich region and is localized to the cytoplasm and nucleus. It binds to DAZ proteins and may regulate their function in germ cell development. The protein is also implicated in cancer through its role in cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAZAP2 Knockout HEK293 Cell Line | EDJ-KQ2439 | Human | 9802 | Details Get a Quote |
| DAZAP2 Knockout A-549 Cell Line | EDJ-KQ22949 | Human | 9802 | Details Get a Quote |
| DAZAP2 Knockout HCT 116 Cell Line | EDJ-KQ22950 | Human | 9802 | Details Get a Quote |
| DAZAP2 Knockout HeLa Cell Line | EDJ-KQ22951 | Human | 9802 | Details Get a Quote |
