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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TPRX2
tetrapeptide repeat homeobox 2
Chromosome 19 · 19q13.33
NCBI Gene: 503627Ensembl: ENSG00000259009.5HGNC: HGNC:32175UniProt: A0A8V8TNP4
4PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
maternal-to-zygotic transition of gene expressionDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingregulation of transcription by RNA polymerase IIvitamin D deficiencyvitamin deficiency disorderliver diseasecholelithiasis
✦AI Summary

TPRX2 is a transcription factor essential for zygotic genome activation (ZGA), the critical transition from maternal to embryonic gene expression control following fertilization 1. As a PRD-like homeobox protein, TPRX2 is highly translated around ZGA and functions as a transcriptional regulator of early embryonic development 2. TPRX2 binds specific DNA sequences containing the 5'-TAATCC-3' motif to activate key ZGA marker genes including NANOGNB, ZSCAN4, DUXB, KLF5, and DPPA3 2. Functionally, TPRX2 knockdown impairs ZGA and preimplantation development, while ectopic expression activates ZGA genes in human embryonic stem cells 2. TPRX2 is upstream-regulated by the maternal transcription factor OTX2, which directly promotes TPRX2 expression to coordinate embryonic genome awakening 3. Despite previous computational predictions suggesting pseudogene status, mass spectrometry studies confirm TPRX2 functions as a bona fide transcriptional activator 4. Notably, TPRX2 exhibits both conserved and divergent regulatory roles across mammalian species; while expressed during bovine preimplantation development, humans lack the TPRX3 ortholog present in cattle, highlighting species-specific regulation of early embryonic transcriptional networks 5.

Sources cited
1
TPRX2 is highly translated during ZGA, activates key ZGA genes, binds the 5'-TAATCC-3' DNA motif, and TPRX2 knockdown causes defective ZGA
PMID: 36074823
2
TPRX2 is a PRD-like homeobox transcription factor expressed exclusively in early embryos and preimplantation development with roles in ZGA regulation
PMID: 27412763
3
OTX2 maternal factor directly activates TPRX1 and TPRX2 expression to promote human embryonic genome activation
PMID: 41145868
4
TPRX2 is confirmed as a transcriptional activator and participates in preimplantation transcription factor regulatory networks
PMID: 38297188
5
TPRX2 is expressed during early bovine development; TPRX3 exists in cattle but not humans, indicating species-specific regulation
PMID: 39506635
Disease Associationsⓘ8
vitamin D deficiencyOpen Targets
0.29Weak
vitamin deficiency disorderOpen Targets
0.07Suggestive
liver diseaseOpen Targets
0.06Suggestive
cholelithiasisOpen Targets
0.06Suggestive
Intrahepatic cholestasis of pregnancyOpen Targets
0.05Suggestive
CholecystitisOpen Targets
0.05Suggestive
cholestasis, intrahepatic, of pregnancy 3Open Targets
0.02Suggestive
gallstonesOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TPRX1Co-mentioned in literature80%ARGFXCo-mentioned in literature40%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
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TPRX2TPRX1ARGFX
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P0DV77
View on AlphaFold ↗
RankingsWhere TPRX2 stands among ~20K protein-coding genes
  • #18,779of 20,598
    Most Researched4
Genes detectedTPRX2
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Translatome and transcriptome co-profiling reveals a role of TPRXs in human zygotic genome activation.
PMID: 36074823
Science · 2022
1.00
2
Interaction network of human early embryonic transcription factors.
PMID: 38297188
EMBO Rep · 2024
0.80
3
Maternal factor OTX2 regulates human embryonic genome activation and early development.
PMID: 41145868
Nat Genet · 2025
0.60
4
Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos.
PMID: 27412763
Sci Rep · 2016
0.40
5
Molecular cloning of PRD-like homeobox genes expressed in bovine oocytes and early IVF embryos.
PMID: 39506635
BMC Genomics · 2024
0.20