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.

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 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
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