Aliases for PRRX2 Gene
Aliases for PRRX2 Gene
External Ids for PRRX2 Gene
- HGNC: 21338
- Entrez Gene: 51450
- Ensembl: ENSG00000167157
- OMIM: 604675
- UniProtKB: Q99811
Previous GeneCards Identifiers for PRRX2 Gene
- GC09P127803
- GC09P129507
- GC09P131467
- GC09P132427
- GC09P102027
Summaries 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.
Additional gene information for PRRX2 Gene
- Monarch Initiative
- Search for PRRX2 at DataMed
- Search for PRRX2 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PRRX2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for PRRX2 Gene
Genomic Locations for PRRX2 Gene
- chr9:129,665,641-129,722,674
- (GRCh38/hg38)
- Size:
- 57,034 bases
- Orientation:
- Plus strand
- chr9:132,427,920-132,484,953
- (GRCh37/hg19)
Genomic View for PRRX2 Gene
Genes around PRRX2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q34.11 by Ensembl
- 9q34.11 by Entrez Gene
- 9q34.11 by HGNC
PRRX2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PRRX2 Gene
Proteins for PRRX2 Gene
-
Protein details for PRRX2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99811-PRRX2_HUMAN
- Recommended name:
- Paired mesoderm homeobox protein 2
- Protein Accession:
- Q99811
- Q5SZB5
- Q9UIB3
Protein attributes for PRRX2 Gene
- Size:
- 253 amino acids
- Molecular mass:
- 27079 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for PRRX2 Gene
No Post-translational modifications
Other Protein References for PRRX2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PRRX2
-
Abcam antibodies for PRRX2
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-
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-
Abcam proteins for PRRX2
Assay Products
No data available for DME Specific Peptides for PRRX2 Gene
Domains & Families for PRRX2 Gene
Gene Families for PRRX2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for PRRX2 Gene
Suggested Antigen Peptide Sequences for PRRX2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99811- Family:
-
- Belongs to the paired homeobox family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003700 | DNA binding transcription factor activity | NAS | 11063257 |
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for PRRX2 Gene
- MGI mutant phenotypes for PRRX2:
-
inferred from 2 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- embryo phenotype
- skeleton phenotype
- craniofacial phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for PRRX2:
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-
-
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-
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- Overview of 80 available PRRX2 gene related products
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miRNA for PRRX2 Gene
- miRTarBase miRNAs that target PRRX2
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PRRX2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
- Nuclear bodies (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for PRRX2 Gene
No Data Available
Interacting Proteins for PRRX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | NAS | 9665387 |
| GO:0007275 | multicellular organism development | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for PRRX2 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for PRRX2
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRRX2
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PRRX2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PRRX2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Fibroblasts (Uncategorized)
- Dermis (Integumentary System)
-
Head Mesenchyme (Muscoskeletal System)
- Dental Mesenchymal Cells Branchial Arch 1
- Branchial Arch 1
- Branchial Arch 2
- Head Mesenchyme
- Bone (Muscoskeletal System)
-
Tooth (Integumentary System)
- Dental Papilla Cells Dental Papilla
- Dental Mesenchymal Cells Branchial Arch 1
- Dental Follicle Cells Dental Papilla
- Cartilage (Muscoskeletal System)
-
Placenta (Extraembryonic Tissues)
- Allantois Cells Allantois
- Allantois
-
Heart (Cardiovascular System)
- Cushion Mesenchymal Cells Endocardium
- Heart Tube
- Neural Crest (Gastrulation Derivatives)
- Adipose (Muscoskeletal System)
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
- Limb (Muscoskeletal System)
- Mesoderm (Gastrulation Derivatives)
- Tendon amp Ligament
- Intestine
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:
PRRX2SOURCE GeneReport for Unigene cluster for PRRX2 Gene:
Hs.660115mRNA Expression by UniProt/SwissProt for PRRX2 Gene:
Q99811-PRRX2_HUMAN
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.
Primer Products
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-
OriGene qPCR primer pairs for PRRX2
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PRRX2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PRRX2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PRRX2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Prrx2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Prrx2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PRRX2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PRRX2 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | prrx2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | phox2ba 34 |
|
ManyToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG9876 34 |
|
OneToMany |
- 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)
Paralogs for PRRX2 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRX2 Gene
Disorders for PRRX2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acrofacial dysostosis 1, nager type |
|
|
Search PRRX2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PRRX2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PRRX2 Gene
Publications for PRRX2 Gene
- 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
- 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
- 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
- Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N … Mountain J (PLoS genetics 2010) 3 44 58
- 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
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 47 available PRRX2 Antibodies ranked by validation data
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Sources for PRRX2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
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- (93) HOMER
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- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
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