DPPA3
Developmental Pluripotency Associated 3
Gene Information Card
| Symbol | DPPA3 |
|---|---|
| Full Name | Developmental Pluripotency Associated 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 359787 ncbi.nlm.nih.gov/gene/359787 |
| Ensembl ID | ENSG00000187583 |
| UniProt ID | Q6NXT2 |
| OMIM ID | 608111 |
| HGNC ID | 19199 |
| Aliases | STELLA, PGC7, DPPA3 |
Description
DPPA3 (Developmental Pluripotency Associated 3), also known as Stella or PGC7, is a protein-coding gene located on chromosome 12p13.31. It encodes a maternal factor essential for early embryonic development, germ cell specification, and maintenance of DNA methylation imprints. DPPA3 is highly expressed in pluripotent stem cells and primordial germ cells, and its expression is rapidly downregulated upon differentiation. The protein protects maternal and paternal genomes from active DNA demethylation after fertilization, thereby preserving genomic imprinting.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | DPPA3 re-expression in somatic cancers may contribute to aberrant DNA methylation patterns and tumor progression. | COSMIC; PMID: 21804562 |
| Infertility | Loss of DPPA3 function in oocytes leads to failure of imprint maintenance and early embryonic arrest. | OMIM 608111; PMID: 16923388 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Lymph node | 0.0 | Not detected |
| Thymus | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Adipose | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Blood | 0.0 | Not detected |
| Muscle | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H1 (embryonic stem cell) | 0.0 | Not detected (RNA-seq data from GTEx/ENCODE) |
| K562 (leukemia) | 0.0 | Not detected |
| HeLa (cervical) | 0.0 | Not detected |
| A549 (lung) | 0.0 | Not detected |
| GM12878 (lymphoblastoid) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no disease association reported |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DPPA3 (e.g., frameshift or nonsense) are expected to disrupt maternal imprint maintenance, leading to early embryonic lethality in animal models.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for DPPA3.
Dominant Negative (DN)
No dominant-negative mutations have been reported for DPPA3.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • DNA methylation (GO:0006306) |
| • multicellular organism development (GO:0007275) | • cell differentiation (GO:0030154) |
| • ATP-dependent chromatin remodeling (GO:0043044) | • metal ion binding (GO:0046872) |
Pathways
• Embryonic stem cell pluripotency (KEGG: hsa04550)
• Regulation of DNA methylation (Reactome: R-HSA-212300)
Protein Summary
DPPA3 (Stella/PGC7) is a small nuclear and cytoplasmic protein of 159 amino acids (UniProt Q6NXT2). It contains a SAP domain involved in DNA binding and chromatin association. The protein is a key maternal factor that protects both maternal and paternal genomes from TET3-mediated active DNA demethylation after fertilization, thereby preserving genomic imprinting. DPPA3 is also required for primordial germ cell development and is a marker of pluripotency. Its expression is largely restricted to oocytes, early embryos, and germ cells, with no detectable expression in most adult somatic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPPA3 Knockout HEK293 Cell Line | EDJ-KQ13206 | Human | 359787 | Details Get a Quote |
| DPPA3 Knockout HeLa Cell Line | EDJ-KQ59883 | Human | 359787 | Details Get a Quote |
| DPPA3 Knockout A-549 Cell Line | EDJ-KQ68346 | Human | 359787 | Details Get a Quote |
| DPPA3 Knockout HCT 116 Cell Line | EDJ-KQ76722 | Human | 359787 | Details Get a Quote |
