ZFP42: A Key Regulator of Pluripotency and Stem Cell Identity
Comprehensive genomic and functional analysis of ZFP42 (REX1), a transcription factor essential for embryonic stem cell maintenance and early development.
Gene Information Card
| Symbol | ZFP42 |
|---|---|
| Full Name | Zinc Finger Protein 42 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q35.2 |
| NCBI Gene ID | 132625 ncbi.nlm.nih.gov/gene/132625 |
| Ensembl ID | ENSG00000179059 |
| UniProt ID | Q96MM3 |
| OMIM ID | 300573 |
| HGNC ID | 12864 |
| Aliases | REX1, REX-1, ZNF754 |
Description
ZFP42 (Zinc Finger Protein 42), also known as REX1, is a transcription factor that plays a critical role in maintaining the pluripotent state of embryonic stem cells. It is a downstream target of the core pluripotency network (OCT4, SOX2, NANOG) and is frequently used as a marker for undifferentiated stem cells. ZFP42 expression is rapidly downregulated upon differentiation. The gene encodes a protein containing four C2H2-type zinc finger domains that bind DNA and regulate target genes involved in cell cycle, chromatin remodeling, and lineage commitment. ZFP42 is also implicated in cancer, where its expression is often altered in germ cell tumors and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Germ cell tumors | ZFP42 is highly expressed in seminomas and embryonal carcinomas, serving as a diagnostic marker for pluripotency-associated malignancies. | NCBI Gene, OMIM |
| Testicular cancer | Overexpression of ZFP42 in testicular germ cell tumors correlates with undifferentiated phenotype and poor prognosis. | COSMIC, PubMed |
| Endometrial cancer | Aberrant ZFP42 expression is observed in endometrial carcinomas, potentially linked to stem-like cell populations. | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Placenta | 0.1 | Low |
| Embryonic stem cells | High | High |
| Bone marrow | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H1 (embryonic stem cell) | High | Pluripotency marker |
| NTERA-2 (embryonal carcinoma) | High | Cancer stem cell model |
| HeLa | Low | Cervical cancer cell line |
| HEK293 | Not detected | Embryonic kidney cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional impact |
| c.200_201insA | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to result in loss of ZFP42 function, potentially impairing pluripotency maintenance.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ZFP42.
Dominant Negative (DN)
No dominant-negative mutations have been described for ZFP42.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Pluripotency network (OCT4
• SOX2
• NANOG
• ZFP42)
• Transcriptional regulation of stem cell differentiation
Protein Summary
The ZFP42 protein (REX1) is a 42 kDa transcription factor with four C2H2-type zinc finger domains. It localizes to the nucleus and binds specific DNA sequences to regulate genes involved in stem cell self-renewal and differentiation. ZFP42 is a direct target of OCT4 and NANOG and acts in a feedback loop to maintain pluripotency. The protein is rapidly degraded upon differentiation signals. Structural studies indicate that the zinc finger domains are essential for DNA binding and transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFP42 Knockout HEK293 Cell Line | EDJ-KQ9299 | Human | 132625 | Details Get a Quote |
| ZFP42 Knockout HeLa Cell Line | EDJ-KQ58315 | Human | 132625 | Details Get a Quote |
| ZFP42 Knockout A-549 Cell Line | EDJ-KQ66805 | Human | 132625 | Details Get a Quote |
| ZFP42 Knockout HCT 116 Cell Line | EDJ-KQ75205 | Human | 132625 | Details Get a Quote |