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PRRX2 (paired related homeobox 2)

Written2005-10Carine Gervais
Laboratoire d'Hématologie et de Cytogénétique Onco-Hématologique, CHU de Hautepierre, Avenue Moliöre - BP 49, 67098 Strasbourg cedex, France

(Note : for Links provided by Atlas : click)


Alias_symbol (synonym)PRX2
Other aliasMGC19843
LocusID (NCBI) 51450
Atlas_Id 42897
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 129665641 and ends at 129722672 bp from pter ( according to hg19-Feb_2009)  [Mapping PRRX2.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DENND1A (9q33.3) / PRRX2 (9q34.11)NUP98 (11p15.4) / PRRX2 (9q34.11)


Description 57 kb, 4 exons
Transcription 1327 bp mRNA


Note Paired mesoderm homeobox protein 2, Paired related homeobox protein 2
  PRRX2 protein. HD = Homeodomain.
Description 253 amino acids, 27 kDa, contains an homeobox DNA-binding domain and an OAR domain.
Expression In embryon, higher levels of transcripts in heart, kidney, lung and skeletal muscle; lower levels in spleen and thymus ; barely detecteble levels in brain and liver.
In adult, higher levels in heart, lung, placenta and pancreas ; moderate expression in kidney and skeletal muscle.
Localisation Nuclear
Function Fetal skin development, cutaneous regeneration and possible role in cellular proliferation. Transcription factor activity.
Homology Member of the paired family of homeobox proteins.
Murine Prrx2.

Implicated in

Entity t(9;11)(q34;p15) / t-AML --> NUP98-PRRX2
Disease one case of adult t-AML
Cytogenetics no additional cytogenetic abnormality in this case
Hybrid/Mutated Gene 5' NUP98   3' PRRX2
NUP98-PRRX2 fusion cDNA partial sequence.
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the homeodomain of PRRX2
Structure of the predicted chimeric NUP98-PRRX2 protein. FG = Phe-Gly repeats, GLEBS = RAE1 binding domain, HD = homeodomain.


A new translocation t(9;11)(q34;p15) fuses NUP98 to a novel homeobox partner gene, PRRX2, in a therapy-related acute myeloid leukemia.
Gervais C, Mauvieux L, Perrusson N, Hélias C, Struski S, Leymarie V, Lioure B, Lessard M
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (1) : 145-148.
PMID 15496970
NUP98 gene fusions in hematologic malignancies.
Lam DH, Aplan PD
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (11) : 1689-1695.
PMID 11681408
NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15).
Nakamura T, Yamazaki Y, Hatano Y, Miura I
Blood. 1999 ; 94 (2) : 741-747.
PMID 10397741
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome.
Norris RA, Scott KK, Moore CS, Stetten G, Brown CR, Jabs EW, Wulfsberg EA, Yu J, Kern MJ
Mammalian genome : official journal of the International Mammalian Genome Society. 2000 ; 11 (11) : 1000-1005.
PMID 11063257
Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless fetal wounds.
Stelnicki EJ, Arbeit J, Cass DL, Saner C, Harrison M, Largman C
The Journal of investigative dermatology. 1998 ; 111 (1) : 57-63.
PMID 9665387
Deletion of the homeobox gene PRX-2 affects fetal but not adult fibroblast wound healing responses.
White P, Thomas DW, Fong S, Stelnicki E, Meijlink F, Largman C, Stephens P
The Journal of investigative dermatology. 2003 ; 120 (1) : 135-144.
PMID 12535210


This paper should be referenced as such :
Gervais, C
PRRX2 (paired related homeobox 2)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(2):91-92.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;11)(q23;p15) NUP98/PRRX1
t(9;11)(q34;p15) NUP98/PRRX2

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;9)(q33;q34) DENND1A/PRRX2

External links

HGNC (Hugo)PRRX2   21338
Entrez_Gene (NCBI)PRRX2  51450  paired related homeobox 2
AliasesPMX2; PRX2
GeneCards (Weizmann)PRRX2
Ensembl hg19 (Hinxton)ENSG00000167157 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167157 [Gene_View]  ENSG00000167157 [Sequence]  chr9:129665641-129722672 [Contig_View]  PRRX2 [Vega]
ICGC DataPortalENSG00000167157
TCGA cBioPortalPRRX2
Genatlas (Paris)PRRX2
SOURCE (Princeton)PRRX2
Genetics Home Reference (NIH)PRRX2
Genomic and cartography
GoldenPath hg38 (UCSC)PRRX2  -     chr9:129665641-129722672 +  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRRX2  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblPRRX2 - 9q34.11 [CytoView hg19]  PRRX2 - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBIPRRX2 [Mapview hg19]  PRRX2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF061970 BC014645 HM005461 HM005473 U81600
RefSeq transcript (Entrez)NM_016307
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRRX2
Cluster EST : UnigeneHs.660115 [ NCBI ]
CGAP (NCI)Hs.660115
Alternative Splicing GalleryENSG00000167157
Gene ExpressionPRRX2 [ NCBI-GEO ]   PRRX2 [ EBI - ARRAY_EXPRESS ]   PRRX2 [ SEEK ]   PRRX2 [ MEM ]
Gene Expression Viewer (FireBrowse)PRRX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51450
GTEX Portal (Tissue expression)PRRX2
Human Protein AtlasENSG00000167157-PRRX2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99811   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99811  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99811
Splice isoforms : SwissVarQ99811
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PRRX2
DMDM Disease mutations51450
Blocks (Seattle)PRRX2
Human Protein Atlas [tissue]ENSG00000167157-PRRX2 [tissue]
Peptide AtlasQ99811
IPIIPI00018429   IPI01026054   
Protein Interaction databases
IntAct (EBI)Q99811
Ontologies - Pathways
Ontology : AmiGODNA binding transcription factor activity  nucleus  regulation of transcription, DNA-templated  multicellular organism development  sequence-specific DNA binding  
Ontology : EGO-EBIDNA binding transcription factor activity  nucleus  regulation of transcription, DNA-templated  multicellular organism development  sequence-specific DNA binding  
NDEx NetworkPRRX2
Atlas of Cancer Signalling NetworkPRRX2
Wikipedia pathwaysPRRX2
Orthology - Evolution
GeneTree (enSembl)ENSG00000167157
Phylogenetic Trees/Animal Genes : TreeFamPRRX2
Homologs : HomoloGenePRRX2
Homology/Alignments : Family Browser (UCSC)PRRX2
Gene fusions - Rearrangements
Fusion : MitelmanDENND1A/PRRX2 [9q33.3/9q34.11]  [t(9;9)(q33;q34)]  
Fusion : MitelmanNUP98/PRRX2 [11p15.4/9q34.11]  [t(9;11)(q34;p15)]  
Fusion PortalDENND1A 9q33.3 PRRX2 9q34.11 HNSC
Fusion : TICdbNUP98 [11p15.4]  -  PRRX2 [9q34.11]
Fusion : QuiverPRRX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRRX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRRX2
Exome Variant ServerPRRX2
ExAC (Exome Aggregation Consortium)ENSG00000167157
GNOMAD BrowserENSG00000167157
Genetic variants : HAPMAP51450
Genomic Variants (DGV)PRRX2 [DGVbeta]
DECIPHERPRRX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRRX2 
ICGC Data PortalPRRX2 
TCGA Data PortalPRRX2 
Broad Tumor PortalPRRX2
OASIS PortalPRRX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRRX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRRX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PRRX2
DgiDB (Drug Gene Interaction Database)PRRX2
DoCM (Curated mutations)PRRX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRRX2 (select a term)
NCG5 (London)PRRX2
Cancer3DPRRX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry PRRX2
NextProtQ99811 [Medical]
Target ValidationPRRX2
Huge Navigator PRRX2 [HugePedia]
snp3D : Map Gene to Disease51450
BioCentury BCIQPRRX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51450
Chemical/Pharm GKB GenePA134871679
Clinical trialPRRX2
canSAR (ICR)PRRX2 (select the gene name)
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 16 09:57:57 CEST 2018

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