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PRRX2 (paired related homeobox 2)

Identity

Other namesPRX2
PMX2
MGC19843
HGNC PRRX2
Location 9q34.1

DNA/RNA

Description 57 kb, 4 exons
Transcription 1327 bp mRNA

Protein

 
  PRRX2 protein. HD = Homeodomain.
Note Paired mesoderm homeobox protein 2, Paired related homeobox protein 2
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.
  

External links

Nomenclature
HGNCPRRX2   21338
Entrez_GenePRRX2  51450  paired related homeobox 2
Cards
AtlasPRRX2ID42897ch9q34
GeneCardsPRRX2
EnsemblPRRX2 [Search_View]   ENSG00000167157 [Gene_View]
GenatlasPRRX2
GeneLynxPRRX2
eGenomePRRX2
euGene51450
Genomic and cartography
GoldenPathPRRX2  -  9q34.1   chr9:131467741-131524772 +  9q34.11   [Description]    (hg18-Mar_2006)
EnsemblPRRX2 - 9q34.11 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGenePRRX2
Gene and transcription
GenbankAF061970 [ ENTREZ ]
GenbankAY662674 [ ENTREZ ]
GenbankBC014645 [ ENTREZ ]
GenbankU81600 [ ENTREZ ]
RefSeqNM_016307 [ SRS ]    NM_016307 [ ENTREZ ]
RefSeqAC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeqAC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeqNC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeqNT_008470 [ SRS ]    NT_008470 [ ENTREZ ]
RefSeqNW_001839239 [ SRS ]    NW_001839239 [ ENTREZ ]
RefSeqNW_924573 [ SRS ]    NW_924573 [ ENTREZ ]
AceViewPRRX2 AceView - NCBI
UnigeneHs.660115 [ SRS ]    Hs.660115 [ NCBI ]     HS660115 [ spliceNest ]
Fast-db16168 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ5ISC7 [ SRS]    Q5ISC7 [ EXPASY ]     Q5ISC7 [ INTERPRO ]     Q5ISC7 [ UNIPROT ]
PrositePS00027 HOMEOBOX_1 [ SRS ]    PS00027 HOMEOBOX_1 [ Expasy ]
PrositePS50071 HOMEOBOX_2 [ SRS ]    PS50071 HOMEOBOX_2 [ Expasy ]
PrositePS50803 OAR [ SRS ]    PS50803 OAR [ Expasy ]
InterproIPR003654 Homeo_OAR [ SRS ]    IPR003654 Homeo_OAR [ EBI ]
InterproIPR001356 Homeobox [ SRS ]    IPR001356 Homeobox [ EBI ]
InterproIPR012287 Homeodomain-rel [ SRS ]    IPR012287 Homeodomain-rel [ EBI ]
InterproIPR000047 HTH_lambrepressr [ SRS ]    IPR000047 HTH_lambrepressr [ EBI ]
CluSTrQ5ISC7
PfamPF00046 Homeobox [ SRS ]    PF00046 Homeobox [ Sanger ]    pfam00046 [ NCBI-CDD ]
PfamPF03826 OAR [ SRS ]    PF03826 OAR [ Sanger ]    pfam03826 [ NCBI-CDD ]
SmartSM00389 HOX [EMBL]
ProdomPD000010 Homeobox[INRA-Toulouse]
ProdomQ5ISC7 Q5ISC7_HUMAN [ Domain structure ]   Q5ISC7 Q5ISC7_HUMAN  [ sequences sharing at least 1 domain ]
BlocksQ5ISC7
HPRD05244
Protein Interaction databases
DIPQ5ISC7
IntActQ5ISC7
Polymorphism : SNP, mutations, diseases
OMIM604675    [ map ]   
GENECLINICS604675
SNPPRRX2 [dbSNP-NCBI]  
SNPNM_016307 [SNP-NCI]  
SNPPRRX2 [GeneSNPs - Utah]  PRRX2] [HGBASE - SRS]
HAPMAPPRRX2 [HAPMAP]  
TICdbPRRX2 [Translocation breakpoints In Cancer]  
HGMDPRRX2
General knowledge
Family BrowserPRRX2 [UCSC Family Browser]
SOURCENM_016307
SMDHs.660115
SAGEHs.660115
GOnuclear chromosome [Amigo]  nuclear chromosome
GOtranscription factor activity [Amigo]  transcription factor activity
GOtranscription factor activity [Amigo]  transcription factor activity
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOmulticellular organismal development [Amigo]  multicellular organismal development
GOsequence-specific DNA binding [Amigo]  sequence-specific DNA binding
PubGenePRRX2
TreeFamPRRX2
CTD51450 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbePRRX2 Related clones (RZPD - Berlin)
PubMed
PubMed9 Pubmed reference(s) in LocusLink

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

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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. October 2005 .
URL : http://AtlasGeneticsOncology.org/Genes/PRRX2ID42897ch9q34.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:16:40 2008


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