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PROX1 Gene

protein-coding   GIFtS: 57
GCID: GC01P214156

Prospero Homeobox 1

(Previous name: prospero-related homeobox 1)
  See PROX1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prospero Homeobox 11 2
Prospero-Related Homeobox 11 2
Homeobox Prospero-Like Protein PROX12 3
Prospero Homeobox Protein 12
PROX-13

External Ids:    HGNC: 94591   Entrez Gene: 56292   Ensembl: ENSG000001177077   OMIM: 6015465   UniProtKB: Q927863   

Export aliases for PROX1 gene to outside databases

Previous GC identifers: GC01P212818 GC01P209982 GC01P210777 GC01P211218 GC01P210550 GC01P212228 GC01P184836


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PROX1 Gene:
The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family
contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The
protein encoded by this gene is conserved across vertebrates and may play an essential role during development.
Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood,
breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Jul 2012)

GeneCards Summary for PROX1 Gene:
PROX1 (prospero homeobox 1) is a protein-coding gene. Diseases associated with PROX1 include breast angiosarcoma, and kaposiform hemangioendothelioma. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PROX2.

UniProtKB/Swiss-Prot: PROX1_HUMAN, Q92786
Function: May play a fundamental role in early development of CNS. May regulate gene expression and development of
postmitotic undifferentiated young neurons (By similarity)

Gene Wiki entry for PROX1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the PROX1 gene promoter:
         E2F-4   E2F-3a   E2F-1   E2F   E2F-2   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPROX1 promoter sequence
   Search Chromatin IP Primers for PROX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PROX1


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q32.3   HGNC cytogenetic band: 1q41

PROX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PROX1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P214156:  view genomic region     (about GC identifiers)

Start:
214,156,524 bp from pter      End:
214,214,595 bp from pter
Size:
58,072 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PROX1_HUMAN, Q92786 (See protein sequence)
Recommended Name: Prospero homeobox protein 1  
Size: 737 amino acids; 83203 Da
Sequence caution: Sequence=CAI15309.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for PROX1:
2LMD (3D)    
Secondary accessions: A6NK29 A8K2B1 Q5SW76 Q8TB91

Explore the universe of human proteins at neXtProt for PROX1: NX_Q92786

Explore proteomics data for PROX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PROX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001257545.1  NP_002754.2  

    ENSEMBL proteins: 
     ENSP00000419517   ENSP00000420283   ENSP00000355925   ENSP00000475357   ENSP00000400694  
     ENSP00000261454  

    PROX1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PROX1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PROX1
    GenScript Custom Purified and Recombinant Proteins Services for PROX1
    Novus Biologicals PROX1 Protein
    Novus Biologicals PROX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PROX1

     
    Search eBioscience for Proteins for PROX1 

     
    antibodies-online proteins for PROX1 (5 products) 

     
    antibodies-online peptides for PROX1

    PROX1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PROX1
    R&D Systems Antibodies for PROX1
    OriGene Antibodies for PROX1
    OriGene Custom Antibody Services for PROX1
    Novus Biologicals PROX1 Antibodies
    Abcam antibodies for PROX1
    Cloud-Clone Corp. Antibodies for PROX1
    ThermoFisher Antibodies for PROX1
    antibodies-online antibodies for PROX1 (90 products) 

    PROX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PROX1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PROX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PROX1
    Cloud-Clone Corp. CLIAs for PROX1
    Search eBioscience for ELISAs for PROX1 
    antibodies-online kits for PROX1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PROX: Homeoboxes / PROS class

    3 InterPro protein domains:
     IPR007738 Prox1
     IPR023082 Homeo_prospero_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q92786

    ProtoNet protein and cluster: Q92786

    1 Blocks protein domain: IPB007738 Homeobox prospero-like

    UniProtKB/Swiss-Prot: PROX1_HUMAN, Q92786
    Similarity: Belongs to the Prospero homeobox family
    Similarity: Contains 1 Prospero-type homeobox DNA-binding domain


    Find genes that share domains with PROX1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROX1_HUMAN, Q92786
    Function: May play a fundamental role in early development of CNS. May regulate gene expression and development of
    postmitotic undifferentiated young neurons (By similarity)

         Genatlas biochemistry entry for PROX1:
    prospero-related homeo box 1,chicken homeo domain protein PROX1 homolog,highly expressed in lens,retina,pancreas

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0003677DNA binding IMP18815287
    GO:0003700sequence-specific DNA binding transcription factor activity IC19210544
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity ISS--
    GO:0003714transcription corepressor activity IDA15143342
         
    Find genes that share ontologies with PROX1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Prox1) (see all 16):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  nervous system  normal  respiratory system 

    Find genes that share phenotypes with PROX1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PROX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PROX1:
    hsa-mir-877-5p (MIRT037355), hsa-mir-148b-3p (MIRT019318), hsa-mir-335-5p (MIRT018128), hsa-mir-181a-5p (MIRT003630)

    Block miRNA regulation of human, mouse, rat PROX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PROX1 (see all 19):
    hsa-miR-125a-5p hsa-miR-1288 hsa-miR-181c hsa-miR-3616-5p hsa-miR-4305 hsa-miR-485-3p hsa-miR-125b hsa-miR-635
    SwitchGear 3'UTR luciferase reporter plasmidPROX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PROX1
    Predesigned siRNA for gene silencing in human, mouse, rat PROX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PROX1

    Clone
    Products:
         
    OriGene clones in human, mouse for PROX1 (see all 7)
    OriGene ORF clones in mouse, rat for PROX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PROX1 (NM_002763)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PROX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PROX1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PROX1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PROX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PROX1_HUMAN, Q92786: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11850194
    GO:0005737cytoplasm IDA11850194

    Find genes that share ontologies with PROX1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including PROX1: 
              Terminal Differentiation Markers in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PROX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PROX1 (Q927861, 2, 3 ENSP000002614544) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC3O153792, 3, ENSP000003029674MINT-6787569 I2D: score=2 STRING: ENSP00000302967
    SUMO1P631652, 3, ENSP000003760764MINT-6787767 I2D: score=1 STRING: ENSP00000376076
    ABL2P426843, ENSP000003565954I2D: score=1 STRING: ENSP00000356595
    ETV6P412123, ENSP000002664274I2D: score=1 STRING: ENSP00000266427
    NR5A1Q132853, ENSP000003626904I2D: score=1 STRING: ENSP00000362690
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 59):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15205472
    GO:0001709cell fate determination IEA--
    GO:0001822kidney development IEP8812486
    GO:0001889liver development IEP11789987
    GO:0001938positive regulation of endothelial cell proliferation IDA19210544

    Find genes that share ontologies with PROX1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PROX1

    1 Novoseek inferred chemical compound relationship for PROX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 34.3 4 12851706 (1), 19118255 (1), 17935479 (1)



    Find genes that share compounds with PROX1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PROX1 gene (2 alternative transcripts): 
    NM_001270616.1  NM_002763.4  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471129 ENST00000498508(uc001hkh.3) ENST00000366958(uc001hkg.1)
    ENST00000607726 ENST00000607425 ENST00000435016 ENST00000261454
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PROX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PROX1 (see all 19):
    hsa-miR-125a-5p hsa-miR-1288 hsa-miR-181c hsa-miR-3616-5p hsa-miR-4305 hsa-miR-485-3p hsa-miR-125b hsa-miR-635
    SwitchGear 3'UTR luciferase reporter plasmidPROX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PROX1
    Predesigned siRNA for gene silencing in human, mouse, rat PROX1
    Clone
    Products:
         
    OriGene clones in human, mouse for PROX1 (see all 7)
    OriGene ORF clones in mouse, rat for PROX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PROX1 (NM_002763)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PROX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PROX1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PROX1
    OriGene qSTAR qPCR primer pairs in human, mouse for PROX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PROX1
      QuantiTect SYBR Green Assays in human, mouse, rat PROX1
      QuantiFast Probe-based Assays in human, mouse, rat PROX1

    Selected AceView cDNA sequences (see all 52):

    BQ631158 AA889147 AW103527 NM_002763 AI680732 AA832394 BQ287980 AA932629 
    N71662 BX104736 BX951516 BC024201 AW296343 AA342648 AI696519 AL705471 
    BX957104 BQ015554 AA975914 U44060 BX498236 AU130498 W01691 AW965016 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PROX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTAAAAATA
    PROX1 Expression
    About this image


    PROX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 10 entries
             Immature Horizontal Cells Inner Nuclear Layer
             Lens
     
     Pancreas (Endocrine System)    fully expand to see all 6 entries
             Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
             Indolactam V-induced cells
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
     
     Epithelial Cells
             Anterior Lens Epithelial Cells Lens
     
     Neurons
             Immature Horizontal Cells Inner Nuclear Layer
    PROX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PROX1 Protein Expression

    UniProtKB/Swiss-Prot: PROX1_HUMAN, Q92786
    Tissue specificity: Most actively expressed in the developing lens. Detected also in embryonic brain, lung, liver
    and kidney. In adult, it is more abundant in heart and liver than in brain, skeletal muscle, kidney and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PROX1: 
              Terminal Differentiation Markers in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PROX1
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    QuantiFast Probe-based Assays in human, mouse, rat PROX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROX1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PROX1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prox11 , 5 prospero-related homeobox 15
    prospero homeobox 11
    92.04(n)1
    98.37(a)1
      1 (95.85 cM)5
    191301  NM_008937.21  NP_032963.11 
     1901180385 
    chicken
    (Gallus gallus)
    Aves PROX11 prospero homeobox 1 88.86(n)
    93.75(a)
      395802  NM_001005616.1  NP_001005616.1 
    lizard
    (Anolis carolinensis)
    Reptilia PROX16
    prospero homeobox 1
    93(a)
    1 ↔ 1
    1(239572350-239640360)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.10332 Xenopus laevis Prox 1 mRNA, complete cds 84.09(n)    AB008773.1 
    zebrafish
    (Danio rerio)
    Actinopterygii prox12 prospero-related homeobox gene 1 79.15(n)   30679  AF063018.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pros3 axonogenesis transcription factor 62(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-263   -- 58(a)   III(8139083-8142768)   --


    ENSEMBL Gene Tree for PROX1 (if available)
    TreeFam Gene Tree for PROX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PROX1 gene
    PROX22  
    1 SIMAP similar gene for PROX1 using alignment to 3 protein entries:     PROX1_HUMAN (see all proteins):
    PROX2

    Find genes that share paralogs with PROX1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PROX1 (see all 1025)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3408741,2
    C,F,O,A,H--184833918(-) GGGCTA/GTATAC 1 -- us2k132Minor allele frequency- T:0.01EA NA MN NS WA 3230
    rs1900730381,2
    --184834413(+) AGACTC/TGGACA 1 -- us2k10--------
    rs1817157391,2
    --184834500(+) GTAAAC/TTCCCT 1 -- us2k10--------
    rs1479231361,2
    --214159280(+) TTTATC/TTGTGG 1 -- us2k10--------
    rs1485645191,2
    --214159434(+) AATAGA/GAGCAT 1 -- us2k10--------
    rs749564661,2
    C,F--214159446(+) ATTCCG/TTCCTG 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1165992081,2
    F--214159538(+) AGTTGG/AAGGTG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs75362561,2
    C,F--214159644(+) ATGCTC/ACCGCA 1 -- us2k12Minor allele frequency- A:0.07NA EA 240
    rs1856119251,2
    --214159672(+) CGACAC/TCTAAC 1 -- us2k10--------
    rs351465561,2
    C--214159851(+) TGTGTGT/-CGCAG 2 -- us2k11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for PROX1 (214156524 - 214214595 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PROX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4498CNV Insertion18451855
    nsv873164CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PROX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PROX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601546    OMIM disorders: --

    7 diseases for PROX1:    
    About MalaCards
    breast angiosarcoma    kaposiform hemangioendothelioma    lymphatic malformation    lymphangiosarcoma
    tufted angioma    inflammatory breast carcinoma    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for PROX1:
    Lymphedema     Lymphangioma     Lymphangiosarcoma

    Find genes that share disorders with PROX1           About GenesLikeMe

    9 Novoseek inferred disease relationships for PROX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphedema 65 1 12060670 (1)
    lymphangioma 62.9 2 12060670 (1), 17584927 (1)
    inflammatory breast cancer 54.5 2 15585631 (2)
    hemangioma 28.9 4 12060670 (2), 15143338 (1), 16424896 (1)
    metastasis 21.9 17 20078963 (1), 17696907 (1)
    tumors 18.6 16 17069925 (3), 17062673 (3), 18580962 (2), 17217617 (2) (see all 7)
    cancer 2.5 2 17069925 (1), 20078963 (1)
    inflammation 0 1 19901262 (1)
    breast cancer 0 2 15585631 (2)

    Genetic Association Database (GAD): PROX1
    Human Genome Epidemiology (HuGE) Navigator: PROX1 (13 documents)

    Export disorders for PROX1 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)
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    PubMed articles for PROX1 gene, integrated from 10 sources (see all 153):
    (articles sorted by number of sources associating them with PROX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and chromosomal localization of the human homeobox gene Prox 1. (PubMed id 8812486)1, 2, 3 Zinovieva R.D.... Tomarev S.I. (Genomics 1996)
    2. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    3. Multistage genomewide association study identifies a locus at 1q41 associated with rate of HIV-1 disease progression to clinical AIDS. (PubMed id 20064070)1, 4 Herbeck J.T....Mullins J.I. (J. Infect. Dis. 2010)
    4. Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people. (PubMed id 20419449)1, 4 Boesgaard T.W....Pedersen O. (Diabetologia 2010)
    5. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight. (PubMed id 20490451)1, 4 Andersson E.A....Pedersen O. (Diabetologia 2010)
    6. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (PubMed id 20081858)1, 4 Dupuis J....Barroso I. (Nat. Genet. 2010)
    7. Candidate gene analysis in primary lymphedema. (PubMed id 18564921)1, 4 Ferrell R.E....Finegold D.N. (Lymphat Res Biol 2008)
    8. Sumoylation of Prox1 controls its ability to induce VEGFR3 expression and lymphatic phenotypes in endothelial cells. (PubMed id 19706680)1, 9 Pan M.R....Hung W.C. (J. Cell. Sci. 2009)
    9. The homeobox transcription factor Prox1 is highly conserved in embryonic hepatoblasts and in adult and transformed hepatocytes, but is absent from bile duct epithelium. (PubMed id 15232737)1, 9 Dudas J....Wilting J. (Anat. Embryol. 2004)
    10. COUP-TFII regulates the functions of Prox1 in lymphatic endothelial cells through direct interaction. (PubMed id 19210544)1, 9 Yamazaki T....Watabe T. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5629 HGNC: 9459 AceView: PROX1 Ensembl:ENSG00000117707 euGenes: HUgn5629
    ECgene: PROX1 H-InvDB: PROX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PROX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PROX1 gene:
    Search GeneIP for patents involving PROX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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