DPPA2 Developmental Pluripotency Associated 2
A key regulator of pluripotency and early embryonic development
Gene Information Card
| Symbol | DPPA2 |
|---|---|
| Full Name | Developmental Pluripotency Associated 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 151871 ncbi.nlm.nih.gov/gene/151871 |
| Ensembl ID | ENSG00000163576 |
| UniProt ID | Q7Z7J5 |
| OMIM ID | 614641 |
| HGNC ID | 19199 |
| Aliases | PESCRG1, ECAT15-2, ESG1 |
Description
DPPA2 (Developmental Pluripotency Associated 2) is a protein-coding gene that encodes a nuclear protein involved in maintaining pluripotency in embryonic stem cells and early embryogenesis. It is highly expressed in undifferentiated stem cells and downregulated upon differentiation. DPPA2 is also implicated in germ cell tumors and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular germ cell tumors | Overexpression of DPPA2 is associated with pluripotency maintenance and tumorigenesis in germ cells | NCBI Gene, OMIM |
| Embryonal carcinoma | DPPA2 expression is elevated in embryonal carcinoma cells, contributing to stemness | UniProt, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.3 | Low |
| Bone marrow | 2.1 | Not detected |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 45.2 | High expression; pluripotency marker |
| H9 (embryonic stem cell) | 38.7 | High expression; stem cell marker |
| HeLa | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional impact |
| c.215C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.215C>T) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported in DPPA2.
Dominant Negative (DN)
No dominant-negative mutations reported in DPPA2.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • chromatin binding |
| • regulation of transcription | • DNA-templated |
| • stem cell population maintenance | • embryonic development |
Pathways
• Pluripotency maintenance pathway
• Embryonic stem cell differentiation
Protein Summary
DPPA2 is a 297-amino acid nuclear protein containing a SAP domain involved in DNA binding and chromatin association. It plays a critical role in maintaining the undifferentiated state of embryonic stem cells and is a marker of pluripotency. The protein is also implicated in germ cell tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPPA2 Knockout HEK293 Cell Line | EDJ-KQ52057 | Human | 151871 | Details Get a Quote |
| DPPA2 Knockout HeLa Cell Line | EDJ-KQ58696 | Human | 151871 | Details Get a Quote |
| DPPA2 Knockout A-549 Cell Line | EDJ-KQ67180 | Human | 151871 | Details Get a Quote |
| DPPA2 Knockout HCT 116 Cell Line | EDJ-KQ75582 | Human | 151871 | Details Get a Quote |
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