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Aliases for PRRX2 Gene

Aliases for PRRX2 Gene

  • Paired Related Homeobox 2 2 3 5
  • Paired-Related Homeobox Protein 2 3 4
  • PRX-2 3 4
  • PMX2 3 4
  • PRX2 3 4
  • Paired-Like Homeodomain Protein PRX2 3
  • Paired Mesoderm Homeobox Protein 2 3
  • Testicular Tissue Protein Li 148 3
  • Testicular Tissue Protein Li 160 3

External Ids for PRRX2 Gene

Previous GeneCards Identifiers for PRRX2 Gene

  • GC09P127803
  • GC09P129507
  • GC09P131467
  • GC09P132427
  • GC09P102027

Summaries for PRRX2 Gene

Entrez Gene Summary for PRRX2 Gene

  • The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRRX2 Gene

PRRX2 (Paired Related Homeobox 2) is a Protein Coding gene. Diseases associated with PRRX2 include Acrofacial Dysostosis 1, Nager Type. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PRRX1.

UniProtKB/Swiss-Prot for PRRX2 Gene

  • May play a role in the scarless healing of cutaneous wounds during the first two trimesters of development.

Gene Wiki entry for PRRX2 Gene

Additional gene information for PRRX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRRX2 Gene

Genomics for PRRX2 Gene

GeneHancer (GH) Regulatory Elements for PRRX2 Gene

Promoters and enhancers for PRRX2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J129664 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 652.3 +1.1 1094 3.8 CTCF KLF1 ZNF777 KLF17 SIN3A KLF14 ZIC2 ZFHX2 ZNF366 EGR1 PRRX2 C9orf50 PIR44517
GH09J129693 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +34.0 33954 11.8 ATF1 ARNT SIN3A GLIS2 E2F8 FOS SP3 SMARCA4 GLIS1 KDM1A PIR44517 PRRX2 ASB6 ENSG00000234789 PTGES TOR1A C9orf78 USP20 C9orf50 PRRX2-AS1
GH09J129623 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.8 -38.9 -38917 6.7 PKNOX1 CLOCK SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B NTMT1 NUP188 FUBP3 SPOUT1 PKN3 PRRX2 TOR1B ENSG00000234055 LOC101929314 C9orf50
GH09J128946 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.1 -717.9 -717949 2.2 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 NUP188 DOLK SPOUT1 LOC101929314 ENSG00000234055 CIZ1 SH3GLB2 GOLGA2 NAIF1 PRRX2
GH09J129724 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15.8 +60.5 60493 2.7 HDAC1 RB1 KLF14 ZNF2 BRCA1 RAD21 RFX5 ZNF335 GLIS2 E2F8 PRRX2 PTGES TOR1B ASB6 ENSG00000234789 TOR1A USP20 C9orf78 C9orf50 PRRX2-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRRX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRRX2 gene promoter:
  • SRF (504 AA)
  • SRF
  • FOXD3
  • AML1a
  • Meis-1b
  • Meis-1
  • HOXA9B

Genomic Locations for PRRX2 Gene

Genomic Locations for PRRX2 Gene
57,034 bases
Plus strand
57,034 bases
Plus strand

Genomic View for PRRX2 Gene

Genes around PRRX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRRX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRRX2 Gene

Proteins for PRRX2 Gene

  • Protein details for PRRX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Paired mesoderm homeobox protein 2
    Protein Accession:
    Secondary Accessions:
    • Q5SZB5
    • Q9UIB3

    Protein attributes for PRRX2 Gene

    253 amino acids
    Molecular mass:
    27079 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRRX2 Gene

Post-translational modifications for PRRX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRRX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRRX2 Gene

Domains & Families for PRRX2 Gene

Gene Families for PRRX2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for PRRX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the paired homeobox family.
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PRRX2: view

Function for PRRX2 Gene

Molecular function for PRRX2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the scarless healing of cutaneous wounds during the first two trimesters of development.

Phenotypes From GWAS Catalog for PRRX2 Gene

Gene Ontology (GO) - Molecular Function for PRRX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity NAS 11063257
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PRRX2: view
genes like me logo Genes that share phenotypes with PRRX2: view

Animal Models for PRRX2 Gene

MGI Knock Outs for PRRX2:

Animal Model Products

miRNA for PRRX2 Gene

miRTarBase miRNAs that target PRRX2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRRX2 Gene

Localization for PRRX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRX2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRRX2 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRRX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PRRX2: view

Pathways & Interactions for PRRX2 Gene

SuperPathways for PRRX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRRX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 9665387
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with PRRX2: view

No data available for Pathways by source and SIGNOR curated interactions for PRRX2 Gene

Drugs & Compounds for PRRX2 Gene

No Compound Related Data Available

Transcripts for PRRX2 Gene

mRNA/cDNA for PRRX2 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(43) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRRX2 Gene

Paired related homeobox 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRRX2 Gene

No ASD Table

Relevant External Links for PRRX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRRX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRRX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRRX2 Gene

This gene is overexpressed in Artery - Aorta (x7.2).

NURSA nuclear receptor signaling pathways regulating expression of PRRX2 Gene:


SOURCE GeneReport for Unigene cluster for PRRX2 Gene:


mRNA Expression by UniProt/SwissProt for PRRX2 Gene:

Tissue specificity: In fetal skin, highest expression found in cells of mesodermal origin within the dermal papilla of the developing hair shaft. Not detected in epidermis or dermis. In adult skin, weakly expressed within the basal layers of the epidermis. Not expressed in dermis.
genes like me logo Genes that share expression patterns with PRRX2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRRX2 Gene

Orthologs for PRRX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRRX2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PRRX2 34 33
  • 99.74 (n)
(Bos Taurus)
Mammalia PRRX2 34 33
  • 90.39 (n)
(Canis familiaris)
Mammalia PRRX2 34 33
  • 89.19 (n)
(Mus musculus)
Mammalia Prrx2 16 34 33
  • 85.09 (n)
(Rattus norvegicus)
Mammalia Prrx2 33
  • 84.95 (n)
(Monodelphis domestica)
Mammalia PRRX2 34
  • 77 (a)
(Gallus gallus)
Aves PRRX2 34 33
  • 78.44 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia prrx2 33
  • 67.28 (n)
(Danio rerio)
Actinopterygii phox2ba 34
  • 36 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9876 34
  • 29 (a)
Species where no ortholog for PRRX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRRX2 Gene

Gene Tree for PRRX2 (if available)
Gene Tree for PRRX2 (if available)
Evolutionary constrained regions (ECRs) for PRRX2: view image

Paralogs for PRRX2 Gene

Paralogs for PRRX2 Gene

(10) SIMAP similar genes for PRRX2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PRRX2: view

Variants for PRRX2 Gene

Sequence variations from dbSNP and Humsavar for PRRX2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000022897 -- 129,702,490(+) G/T intron_variant
rs1000029259 -- 129,707,511(+) C/T intron_variant
rs1000042261 -- 129,672,351(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000086474 -- 129,703,711(+) C/T intron_variant
rs1000089438 -- 129,718,569(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PRRX2 Gene

Variant ID Type Subtype PubMed ID
dgv1511e214 CNV gain 21293372
esv3621839 CNV loss 21293372
nsv1046477 CNV gain 25217958
nsv1137671 CNV deletion 24896259
nsv466589 CNV loss 19166990
nsv469901 CNV loss 18288195
nsv472169 CNV novel sequence insertion 20440878
nsv615496 CNV loss 21841781
nsv615497 CNV loss 21841781
nsv951785 CNV deletion 24416366

Variation tolerance for PRRX2 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRRX2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRX2 Gene

Disorders for PRRX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRRX2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
acrofacial dysostosis 1, nager type
  • afd1
- elite association - COSMIC cancer census association via MalaCards
Search PRRX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PRRX2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PRRX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRRX2 Gene

Publications for PRRX2 Gene

  1. Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. (PMID: 11063257) Norris RA … Kern MJ (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 2 3 4 22 58
  2. Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless fetal wounds. (PMID: 9665387) Stelnicki EJ … Largman C (The Journal of investigative dermatology 1998) 3 4 22 58
  3. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N … Mountain J (PLoS genetics 2010) 3 44 58
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for PRRX2 Gene

Sources for PRRX2 Gene

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