Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PRRX2 (paired related homeobox 2)

Identity

Other namesPRX2
PMX2
MGC19843
HGNC (Hugo) PRRX2
LocusID (NCBI) 51450
Location 9q34.11
Location_base_pair Starts at 132427920 and ends at 132484951 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description 57 kb, 4 exons
Transcription 1327 bp mRNA

Protein

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-PPRX2
Disease one case of adult t-AML
Cytogenetics no additional cytogenetic abnormality in this case
 
NUP98-PRRX2 fusion cDNA partial sequence.
Hybrid/Mutated Gene 5¹ NUP98 ­ 3¹ PRRX2
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.
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)PRRX2   21338
Cards
AtlasPRRX2ID42897ch9q34
Entrez_Gene (NCBI)PRRX2  51450  paired related homeobox 2
GeneCards (Weizmann)PRRX2
Ensembl (Hinxton)ENSG00000167157 [Gene_View]  chr9:132427920-132484951 [Contig_View]  PRRX2 [Vega]
ICGC DataPortalENSG00000167157
cBioPortalPRRX2
AceView (NCBI)PRRX2
Genatlas (Paris)PRRX2
WikiGenes51450
SOURCE (Princeton)NM_016307
Genomic and cartography
GoldenPath (UCSC)PRRX2  -  9q34.11   chr9:132427920-132484951 +  9q34.11   [Description]    (hg19-Feb_2009)
EnsemblPRRX2 - 9q34.11 [CytoView]
Mapping of homologs : NCBIPRRX2 [Mapview]
OMIM604675   
Gene and transcription
Genbank (Entrez)AF061970 BC014645 U81600
RefSeq transcript (Entrez)NM_016307
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NT_008470 NW_001839239 NW_004929366
Consensus coding sequences : CCDS (NCBI)PRRX2
Cluster EST : UnigeneHs.660115 [ NCBI ]
CGAP (NCI)Hs.660115
Alternative Splicing : Fast-db (Paris)GSHG0030507
Alternative Splicing GalleryENSG00000167157
Gene ExpressionPRRX2 [ NCBI-GEO ]     PRRX2 [ SEEK ]   PRRX2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99811 (Uniprot)
NextProtQ99811  [Medical]
With graphics : InterProQ99811
Splice isoforms : SwissVarQ99811 (Swissvar)
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox_CS [organisation]   Homeobox_dom [organisation]   Homeodomain-like [organisation]   OAR_dom [organisation]  
Related proteins : CluSTrQ99811
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations51450
Blocks (Seattle)Q99811
Human Protein AtlasENSG00000167157 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ99811
HPRD05244
IPIIPI00018429   IPI01026054   
Protein Interaction databases
DIP (DOE-UCLA)Q99811
IntAct (EBI)Q99811
FunCoupENSG00000167157
BioGRIDPRRX2
InParanoidQ99811
Interologous Interaction database Q99811
IntegromeDBPRRX2
STRING (EMBL)PRRX2
Ontologies - Pathways
Ontology : AmiGOpositive regulation of mesenchymal cell proliferation  sequence-specific DNA binding transcription factor activity  nucleus  regulation of transcription, DNA-templated  embryonic limb morphogenesis  inner ear morphogenesis  middle ear morphogenesis  sequence-specific DNA binding  positive regulation of smoothened signaling pathway  embryonic cranial skeleton morphogenesis  artery morphogenesis  cartilage development  
Ontology : EGO-EBIpositive regulation of mesenchymal cell proliferation  sequence-specific DNA binding transcription factor activity  nucleus  regulation of transcription, DNA-templated  embryonic limb morphogenesis  inner ear morphogenesis  middle ear morphogenesis  sequence-specific DNA binding  positive regulation of smoothened signaling pathway  embryonic cranial skeleton morphogenesis  artery morphogenesis  cartilage development  
Protein Interaction DatabasePRRX2
Wikipedia pathwaysPRRX2
Gene fusion - rearrangments
Rearrangement : TICdbNUP98 [11p15.4]  -  PRRX2 [7q11.23]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PRRX2
snp3D : Map Gene to Disease51450
SNP (GeneSNP Utah)PRRX2
SNP : HGBasePRRX2
Genetic variants : HAPMAPPRRX2
Exome VariantPRRX2
1000_GenomesPRRX2 
ICGC programENSG00000167157 
Somatic Mutations in Cancer : COSMICPRRX2 
CONAN: Copy Number AnalysisPRRX2 
Mutations and Diseases : HGMDPRRX2
Mutations and Diseases : intOGenPRRX2
Genomic VariantsPRRX2  PRRX2 [DGVbeta]
dbVarPRRX2
ClinVarPRRX2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM604675   
MedgenPRRX2
GENETestsPRRX2
Disease Genetic AssociationPRRX2
Huge Navigator PRRX2 [HugePedia]  PRRX2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePRRX2
Homology/Alignments : Family Browser (UCSC)PRRX2
Phylogenetic Trees/Animal Genes : TreeFamPRRX2
Chemical/Protein Interactions : CTD51450
Chemical/Pharm GKB GenePA134871679
Clinical trialPRRX2
Cancer Resource (Charite)ENSG00000167157
Other databases
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
CoreMinePRRX2
iHOPPRRX2
OncoSearchPRRX2

Bibliography

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
 
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
 
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
 
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
 
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, Hˆ©lias 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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written10-2005Carine Gervais
Laboratoire d'Hématologie et de Cytogénétique Onco-Hématologique, CHU de Hautepierre, Avenue Molière - BP 49, 67098 Strasbourg cedex, France

Citation

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/PRRX2ID42897ch9q34.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Oct 4 12:55:49 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.