DPPA4
Developmental Pluripotency Associated 4
Gene Information Card
| Symbol | DPPA4 |
|---|---|
| Full Name | Developmental Pluripotency Associated 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 55219 ncbi.nlm.nih.gov/gene/55219 |
| Ensembl ID | ENSG00000121594 |
| UniProt ID | Q8NFQ5 |
| OMIM ID | 608961 |
| HGNC ID | 19200 |
| Aliases | FLJ10713, ESG1, DPPA4 |
Description
DPPA4 (Developmental Pluripotency Associated 4) is a protein-coding gene that encodes a nuclear protein highly expressed in embryonic stem cells and germ cells. It plays a role in maintaining pluripotency and self-renewal of stem cells. The protein is involved in transcriptional regulation and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular germ cell tumors | Overexpression of DPPA4 is associated with pluripotency maintenance in germ cell tumors. | NCBI Gene, COSMIC |
| Embryonal carcinoma | DPPA4 is expressed in embryonal carcinoma cells and may contribute to tumorigenesis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.3 | Low |
| Bone marrow | 3.1 | Not detected |
| Brain | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 45.2 | High expression |
| H1 (embryonic stem cell) | 38.7 | High expression |
| HeLa | 0.5 | Not detected |
| K562 | 0.3 | Not detected |
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 | Synonymous | <0.1% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DPPA4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • positive regulation of transcription by RNA polymerase II (GO:0045944) | • stem cell population maintenance (GO:0019827) |
Pathways
• Pluripotency pathway (Reactome: R-HSA-5250913)
• Transcriptional regulation of pluripotent stem cells (KEGG: hsa04550)
Protein Summary
DPPA4 is a 297-amino acid nuclear protein with a SAP domain (SAF-A/B, Acinus, PIAS) involved in DNA binding and chromatin organization. It is a key marker of pluripotency and is downregulated upon differentiation. The protein interacts with other pluripotency factors such as OCT4 and NANOG.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPPA4 Knockout HEK293 Cell Line | EDJ-KQ11998 | Human | 55211 | Details Get a Quote |
| DPPA4 Knockout HeLa Cell Line | EDJ-KQ56556 | Human | 55211 | Details Get a Quote |
| DPPA4 Knockout A-549 Cell Line | EDJ-KQ65051 | Human | 55211 | Details Get a Quote |
| DPPA4 Knockout HCT 116 Cell Line | EDJ-KQ73496 | Human | 55211 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
