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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PRRX2 Gene

protein-coding GIFtS: 49
GCID: GC09P132427

Paired Related Homeobox 2

3 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Paired Related Homeobox 2¹ ²		PRX-2² ³
PRX2² ³ ⁵		Paired Mesoderm Homeobox Protein 2²
Paired-Related Homeobox Protein 2² ³		Paired-Like Homeodomain Protein PRX2²
PMX2² ³

External Ids:	HGNC: 21338¹	Entrez Gene: 51450²	Ensembl: ENSG00000167157⁷	OMIM: 604675⁵	UniProtKB: Q99811³

Export aliases for PRRX2 gene to outside databases

Previous GC identifers: GC09P127803 GC09P129507 GC09P131467 GC09P102027

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 acute myeloid leukemia, and myeloid leukemia. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot: PRRX2_HUMAN, Q99811

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

Gene Wiki entry for PRRX2 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.2 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PRRX2 gene promoter:
HOXA9B SRF AML1a SRF (504 AA) FOXD3 Meis-1 Meis-1b
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for PRRX2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRRX2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.1 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34.11

PRRX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRRX2 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P132427: view genomic region (about GC identifiers)

Start:	132,427,920 bp from pter	End:	132,484,953 bp from pter
Size:	57,034 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRRX2_HUMAN, Q99811 (See protein sequence)

Recommended Name: Paired mesoderm homeobox protein 2

Size: 253 amino acids; 27079 Da

Subcellular location: Nucleus (By similarity)

Developmental stage: Higher expression in fetus than in adult

Secondary accessions: Q5SZB5 Q9UIB3

Explore the universe of human proteins at neXtProt for PRRX2: NX_Q99811

Explore proteomics data for PRRX2 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q99811

PRRX2 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_057391.1

ENSEMBL proteins:

ENSP00000361547

Human Recombinant Protein Products for PRRX2:

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	Cloud-Clone Corp. Proteins for PRRX2

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000228	nuclear chromosome	NAS	--

PRRX2 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

PRD: Homeoboxes / PRD class

4 InterPro protein domains:

IPR003654 OAR_dom

IPR017970 Homeobox_CS

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q99811

ProtoNet protein and cluster: Q99811

2 Blocks protein domains:

IPB000047 Lambda and other repressor helix-turn-helix signature

IPB003654 Paired-like homeodomain protein

UniProtKB/Swiss-Prot: PRRX2_HUMAN, Q99811

Similarity: Belongs to the paired homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

PRRX2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PRRX2_HUMAN, Q99811

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

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	NAS	11063257
GO:0043565	sequence-specific DNA binding	IEA	--

PRRX2 for ontologies About GeneDecksing

Phenotypes:
15 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Prrx2):

behavior/neurological	cardiovascular system	craniofacial	digestive/alimentary	embryogenesis
growth/size	hearing/vestibular/ear	homeostasis/metabolism	limbs/digits/tail	mortality/aging
nervous system	normal	respiratory system	skeleton	vision/eye

PRRX2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Prrx2^tm1Mjk for PRRX2

inGenious Targeting Laboratory - Custom generated mouse model solutions for PRRX2

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRRX2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRX2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PRRX2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for PRRX2 (Q99811³ ENSP00000361547⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SOX10	P56693³, ENSP00000354130⁴	I2D: score=1 STRING: ENSP00000354130

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	9665387
GO:0030326	embryonic limb morphogenesis	IEA	--
GO:0042472	inner ear morphogenesis	IEA	--
GO:0042474	middle ear morphogenesis	IEA	--

PRRX2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PRRX2

Search CenterWatch for drugs/clinical trials and news about PRRX2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PRRX2 gene:

NM_016307.3

Unigene Cluster for PRRX2:

Paired related homeobox 2

Hs.660115 [show with all ESTs]

Unigene Representative Sequence: BM909706

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000372469(uc004byh.3)

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		hsa-miR-374c hsa-miR-655 hsa-miR-548u
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Additional mRNA sequence:

AF061970.1 BC014645.1 U81600.1

2 DOTS entries:

DT.203595 DT.121156198

24/43 AceView cDNA sequences (see all 43):

AI821507 BU731241 BM716252 AI917607 AI923085 BE645185 NM_016307 BC014645

BF939198 AI420043 BM694729 AA548667 AI674514 BX097188 AW167940 AF061970

U81600 BG055248 BM800161 AI697307 CB050583 AI203915 AI936570 AI808278

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PRRX2 expression in normal human tissues (normalized intensities) PRRX2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCAACAGCA

About this image

PRRX2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/26 selected tissues (see all 26) fully expand


Cartilage (Muscoskeletal System) fully expand to see all 10 entries
Rostral Chondrocranium
"PureStem MEL2, NCr-fac Progenitor"
HyStem+BMP4-induced E15 cells

Bone (Muscoskeletal System) fully expand to see all 8 entries
Mandibular Process
"PureStem MEL2, NCr-fac Progenitor"
HyStem+BMP4-induced SK11 cells

Heart (Cardiovascular System) fully expand to see all 5 entries
Heart Tube
heart/ventricle

Adipose (Muscoskeletal System) fully expand to see all 4 entries
"PureStem MEL2, NCr-fac Progenitor"
HyStem+BMP4-induced E15 cells

Limb (Muscoskeletal System) fully expand to see all 3 entries
Autopod
limb/hindlimb

See PRRX2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PRRX2

SOURCE GeneReport for Unigene cluster: Hs.660115

UniProtKB/Swiss-Prot: PRRX2_HUMAN, Q99811

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

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PRRX2 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Prrx2^{1 , 5}	paired related homeobox 2^{1, 5}	85.23(n)¹ 92.68(a)¹		2 (21.74 cM)⁵ 20204¹ NM_009116.2¹ NP_033142.2¹ 30834972⁵
chicken (Gallus gallus)	Aves	PRRX2¹	paired related homeobox 2	77.5(n) 84.17(a)		396314 XM_415476.3 XP_415476.3
fruit fly (Drosophila melanogaster)	Insecta	repo⁶ CG9876⁶ (see all 4)	--	9(a) 24(a) (see all 4)	possible ortholog 1 ↔ many (see all 4)	3R(14061916-14065324) 2R(18977626-18981785)
worm (Caenorhabditis elegans)	Secernentea	alr-1⁶	Protein ALR-1	16(a)	1 → many	X(11122597-11125615)

ENSEMBL Gene Tree for PRRX2 (if available)
TreeFam Gene Tree for PRRX2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PRRX2 gene

ALX1² PHOX2B² ARX² RAX² DRGX² PRRX1² SHOX2² PHOX2A²

ALX4² ISX² RAX2² ALX3² SHOX² OTP²

17 SIMAP similar genes for PRRX2 using alignment to 2 protein entries: PRRX2_HUMAN (see all proteins):

PITX2 PRRX1 NKX2-5 SHOX2 HOXB1 PHOX2A

DUX2 MNX1 POU6F1 OTX2 PHOX2B RAX

PAX6 HOXA4 RAX2 ARX OTP

PRRX2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139917922^1,2	C	--	132425940(+)	`GTAGTA/GGCCCT`	1	--	us2k¹		0	--	--	--	--
rs7864717^1,2	C,F	--	132426059(+)	`ACTGGC/TGCCTC`	1	--	us2k¹		1		WA	118
rs149409904^1,2		--	132426160(+)	`CACCTA/GCACGG`	1	--	us2k¹		0	--	--	--	--
rs10739756^1,2	C,A,H	--	132426231(+)	`TATTTT/AATTTA`	1	--	us2k¹		9		NA WA CSA EA	371
rs181780915^1,2		--	132426242(+)	`ATTTAC/TATATA`	1	--	us2k¹		0	--	--	--	--
rs186163819^1,2		--	132426256(+)	`TTTGAA/GATGGA`	1	--	us2k¹		0	--	--	--	--
rs190930649^1,2		--	132426327(+)	`CGCCTC/TCCAGG`	1	--	us2k¹		0	--	--	--	--
rs147497339^1,2		--	132426382(+)	`CAGGCA/GCCTGC`	1	--	us2k¹		0	--	--	--	--
rs147854305^1,2		--	132426411(+)	`TTTTTA/TATTAT`	1	--	us2k¹		0	--	--	--	--
rs13291228^1,2	C,F	--	132426773(+)	`GGCCAA/GCATGG`	1	--	us2k¹		7		NA WA CSA EA	131

HapMap Linkage Disequilibrium report for PRRX2 (132427920 - 132484953 bp)

Structural Variations
Database of Genomic Variants (DGV) 8 variations for PRRX2: About this table

Variant ID	Type	Subtype	PubMed ID
nsv893919	CNV	Loss	21882294
nsv466589	CNV	Loss	19166990
nsv469901	CNV	Loss	18288195
nsv893924	CNV	Loss	21882294
nsv893909	CNV	Loss	21882294
nsv893927	CNV	Loss	21882294
nsv893925	CNV	Gain	21882294
nsv893926	CNV	Gain	21882294

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PRRX2 for disorders           About GeneDecksing

OMIM gene information: 604675    OMIM disorders: --

3 diseases for PRRX2:    About MalaCards

acute myeloid leukemia myeloid leukemia leukemia

Genetic Association Database (GAD): PRRX2
Human Genome Epidemiology (HuGE) Navigator: PRRX2 (1 document)

Export disorders for PRRX2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PRRX2 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with PRRX2)

Utopia: connect your pdf to the dynamic
world of online information

Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. (PubMed id 11063257)^{1, 2, 3, 9} Norris R.A.... Kern M.J. (2000)
Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless fetal wounds. (PubMed id 9665387)^{1, 2, 9} Stelnicki E.J....Largman C. (1998)
Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)^{1, 4} Eriksson N....Mountain J. (2010)
Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)^{1, 4} Jugessur A....Murray J.C. (2010)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
GeneChip microarrays facilitate identification of Protease Nexin-1 as a target gene of the Prx2 (S8) homeoprotein. (PubMed id 12713735)^{1, 9} Scott K.K....Kern M.J. (2003)
Model for the exceptional reactivity of peroxiredoxin s 2 and 3 with hydrogen peroxide: a kinetic and computational study. (PubMed id 21385867)¹ Nagy P....Winterbourn C.C. (2011)
Oxidation of Prx2 and phosphorylation of GRP58 by angiotensin II in human coronary smooth muscle cells identified by 2D-DIGE analysis. (PubMed id 17964282)¹ Tokutomi Y....Kim-Mitsuyama S. (2007)
The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors. (PubMed id 16582099)¹ Wissmuller S....Wegner M. (2006)
A new translocation t(9;11)(q34;p15) fuses NUP98 to a novel homeobox partner gene, PRRX2, in a therapy-related acute myeloid leukemia. (PubMed id 15496970)¹ Gervais C.... Lessard M. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 51450	HGNC: 21338	AceView: PRRX2	Ensembl:ENSG00000167157	euGenes: HUgn51450
ECgene: PRRX2	H-InvDB: PRRX2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PRRX2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PRRX2	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for PRRX2 gene
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Patent Information for PRRX2 gene:
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