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POR Gene

protein-coding   GIFtS: 70
GCID: GC07P075528

P450 (Cytochrome) Oxidoreductase

  See 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
P450 (Cytochrome) Oxidoreductase1 2     EC 1.6.2.43 8
CPR2 3     NADPH--Cytochrome P450 Reductase2
CYPOR2 3     NADPH-Dependent Cytochrome P450 Reductase2
P450R2 3     

External Ids:    HGNC: 92081   Entrez Gene: 54472   Ensembl: ENSG000001279487   OMIM: 1240155   UniProtKB: P164353   

Export aliases for POR gene to outside databases

Previous GC identifers: GC07P074118 GC07P075181 GC07P075195 GC07P075156 GC07P075189 GC07P075227 GC07P075382 GC07P070631


(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 POR Gene:
This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a
flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly
from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases,
including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital
adrenal hyperplasia and Antley-Bixler syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for POR Gene:
POR (P450 (cytochrome) oxidoreductase) is a protein-coding gene. Diseases associated with POR include disordered steroidogenesis due to cytochrome p450 oxidoreductase, and cytochrome p450 oxidoreductase deficiency. GO annotations related to this gene include iron ion binding and enzyme binding. An important paralog of this gene is NOS3.

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
Function: This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also
provide electron transfer to heme oxygenase and cytochrome B5

Gene Wiki entry for POR (Cytochrome P450 reductase) 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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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the POR gene promoter:
         GR   PPAR-alpha   Pbx1a   GR-beta   GR-alpha   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POR promoter sequence
   Search Chromatin IP Primers for POR

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


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

Entrez Gene cytogenetic band: 7q11.2   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.2

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P075528:  view genomic region     (about GC identifiers)

Start:
75,528,518 bp from pter      End:
75,616,173 bp from pter
Size:
87,656 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 74,877,484-74,949,237     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435 (See protein sequence)
Recommended Name: NADPH--cytochrome P450 reductase  
Size: 677 amino acids; 76690 Da
Cofactor: FAD
Cofactor: FMN
Sequence caution: Sequence=AAH34277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for POR (see all 7):
1B1C (3D)        3FJO (3D)        3QE2 (3D)        3QFC (3D)        3QFR (3D)        3QFS (3D)    
Secondary accessions: Q16455 Q197M5 Q8N181 Q9H3M8 Q9UDT3

Explore the universe of human proteins at neXtProt for POR: NX_P16435

Explore proteomics data for POR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys56, Lys487
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POR (P16435) (see all 20)
     GSQTGTA  GKEVGET  CELLPRLQ  RKSQFRLP 


    See POR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000932.3  
    ENSEMBL proteins: 
     ENSP00000395813   ENSP00000390540   ENSP00000419970   ENSP00000399409   ENSP00000409881  
     ENSP00000378355   ENSP00000409238   ENSP00000399327   ENSP00000389409   ENSP00000399556  
     ENSP00000389719   ENSP00000404731   ENSP00000414263   ENSP00000393527   ENSP00000400964  
     ENSP00000403494   ENSP00000412490   ENSP00000446149   ENSP00000416572   ENSP00000414244  

    POR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for POR (POR/Cytochrome P450 Reductase)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for POR
    OriGene Protein Over-expression Lysate for POR
    OriGene MassSpec for POR
    OriGene Custom Protein Services for POR
    GenScript Custom Purified and Recombinant Proteins Services for POR
    Novus Biologicals POR Protein
    Novus Biologicals POR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    POR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for POR (POR/Cytochrome P450 Reductase)
    OriGene Antibodies for POR
    OriGene Custom Antibody Services for POR
    Novus Biologicals POR Antibodies
    Abcam antibodies for POR
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for POR
    LSBio Antibodies in human, mouse, rat for POR

    POR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for POR
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for POR
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR001094 Flavdoxin
     IPR008254 Flavodoxin/NO_synth
     IPR001433 OxRdtase_FAD/NAD-bd
     IPR003097 FAD-binding_1

    Graphical View of Domain Structure for InterPro Entry P16435

    ProtoNet protein and cluster: P16435

    5 Blocks protein domains:
    IPB001094 Flavodoxin signature
    IPB001433 Oxidoreductase FAD/NAD(P)-binding
    IPB001709 Flavoprotein pyridine nucleotide cytochrome reductase signature
    IPB003097 FAD-binding
    IPB008254 Flavodoxin/nitric oxide synthase


    UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
    Similarity: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family
    Similarity: Contains 1 FAD-binding FR-type domain
    Similarity: Contains 1 flavodoxin-like domain


    POR 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, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NCPR_HUMAN, P16435
    Function: This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also
    provide electron transfer to heme oxygenase and cytochrome B5
    Catalytic activity: NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein

         Genatlas biochemistry entry for POR:
    P-450 (cytochrome) oxidoreductase

         Enzyme Number (IUBMB): EC 1.6.2.41 2

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003958NADPH-hemoprotein reductase activity TAS10048323
    GO:0004128cytochrome-b5 reductase activity, acting on NAD(P)H IEA--
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0008941nitric oxide dioxygenase activity IEA--
         
    POR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POR:
     Increased gamma-H2AX phosphory 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Por) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size/body  homeostasis/metabolism  limbs/digits/tail  liver/biliary system  mortality/aging 
     muscle  nervous system  renal/urinary system  reproductive system  respiratory system 

    POR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for POR: Portm2Wolf Portm1Cbk Portm2Ding

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POR

    miRNA
    Products:
        
    miRTarBase miRNAs that target POR:
    hsa-mir-671-5p (MIRT039293), hsa-mir-335-5p (MIRT017903), hsa-mir-92a-3p (MIRT049130)

    Block miRNA regulation of human, mouse, rat POR using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate POR:
    hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidPOR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POR
    Predesigned siRNA for gene silencing in human, mouse, rat POR

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

    Clone
    Products:
         
    OriGene clones in human, mouse for POR (see all 7)
    OriGene ORF clones in mouse, rat for POR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
    Sino Biological Human cDNA Clone for POR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POR

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR


    (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
    NCPR_HUMAN, P16435: Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER
    membrane by its N-terminal hydrophobic region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    mitochondrion2
    nucleus2
    peroxisome2
    plasma membrane2
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0043231intracellular membrane-bounded organelle IDA9618440

    POR for ontologies           About GeneDecksing


    (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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    SuperPaths for POR About    
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    cytochrome P4500.74
    1,25-dihydroxyvitamin D3 biosynthesis0.00
    2tryptophan utilization II
    tryptophan utilization I0.71
    melatonin degradation I0.00
    superpathway of melatonin degradation0.00
    3Synthesis of bile acids and bile salts
    bile acid biosynthesis, neutral pathway0.48
    4Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics0.43
    5Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics
    Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics


    Selected BioSystems Pathways for POR (see all 6)
        cytochrome P450
    melatonin degradation I
    1,25-dihydroxyvitamin D3 biosynthesis
    bile acid biosynthesis, neutral pathway
    superpathway of melatonin degradation


    2 PharmGKB Pathways for POR
        Doxorubicin Pathway, Pharmacokinetics
    Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Array including POR: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POR

    Selected Interacting proteins for POR (P164351, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC6P129562, 3MINT-63487 I2D: score=4 
    RABEPKQ7Z6M12, 3MINT-8267830 I2D: score=2 
    CDIPTO147353I2D: score=4 
    CYP51A1Q168503I2D: score=4 
    ZMPSTE24O758443I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003420regulation of growth plate cartilage chondrocyte proliferation IEA--
    GO:0007584response to nutrient IEA--
    GO:0009437carnitine metabolic process IEA--
    GO:0009812flavonoid metabolic process IEA--
    GO:0018393internal peptidyl-lysine acetylation IEA--

    POR for ontologies           About GeneDecksing



    (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 POR (NCPR)

    9 HMDB Compounds for POR    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Ferricytochrome553-12-8 (FREE ACID) (see all 21)1818-68-4--
    Ferrocytochrome553-12-8 (FREE ACID) (see all 21)1818-68-4--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Lipoic acid(+)-alpha-Lipoate (see all 92)1077-28-7--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    Selected DrugBank Compounds for POR (see all 11)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    BenzphetamineBenzfetamine (see all 3)156-08-1enzymesubstrate3148724 1416971 2434473 3125159 3924914
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235
    Lipoic Acid1,2-Dithiolane-3R-pentanoic acid (see all 4)62-46-4enzymeinhibitor18838505 16391466 19548358
    Daunorubicin-- 20830-81-3enzymesubstrate10543722 34156
    Mitomycin7-Amino-9α-methoxymitosane (see all 3)50-07-7enzymesubstrate2122607 2123741
    DoxorubicinAdria (see all 4)23214-92-8enzymesubstrate6305277
    Nilutamide-- 63612-50-0enzymesubstrate1311586
    Nitrofurantoin-- 67-20-9enzymesubstrate18206659
    Riboflavin Monophosphate-- 146-17-8target--10592235
    enzyme----

    Selected Novoseek inferred chemical compound relationships for POR gene (see all 130)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 90.2 410 8593536 (7), 1312930 (5), 15516695 (4), 12787027 (4) (see all 99)
    semiquinone 81.3 21 19055322 (3), 17015278 (2), 12631275 (2), 16009330 (2) (see all 11)
    benzphetamine 80.6 1 1708254 (1)
    tirapazamine 78.7 7 2117504 (2), 9271329 (1), 19772319 (1), 10584872 (1) (see all 6)
    flavin 78 31 16249336 (2), 19908820 (2), 12787027 (2), 15703263 (2) (see all 21)
    biliverdin 76.2 17 12626517 (2), 11853459 (1), 16115609 (1), 15226268 (1) (see all 13)
    ethoxyresorufin 73.4 5 1537466 (1), 15486049 (1), 16276964 (1), 17455110 (1) (see all 5)
    cypermethrin 71.5 94 8971136 (7), 20027147 (6), 16249336 (5), 10864447 (5) (see all 18)
    2',5'-adp 71.2 7 12787027 (2), 16445284 (1), 17580970 (1), 8218222 (1)
    2-aminoanthracene 71.1 1 19884324 (1)



    POR for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POR gene: 
    NM_000941.2  

    Unigene Cluster for POR:

    P450 (cytochrome) oxidoreductase
    Hs.354056  [show with all ESTs]
    Unigene Representative Sequence: CD014011
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000453773 ENST00000439963 ENST00000461988(uc003udy.3 uc011kgc.2)
    ENST00000448410 ENST00000421059 ENST00000471238 ENST00000394893 ENST00000412521
    ENST00000414186 ENST00000432753 ENST00000449920 ENST00000418341 ENST00000412064
    ENST00000454934 ENST00000447222 ENST00000426184 ENST00000439297 ENST00000475509(uc011kgb.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat POR using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate POR:
    hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidPOR 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for POR
    Predesigned siRNA for gene silencing in human, mouse, rat POR
    Clone
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    OriGene clones in human, mouse for POR (see all 7)
    OriGene ORF clones in mouse, rat for POR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POR
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for POR
    OriGene qSTAR qPCR primer pairs in human, mouse for POR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POR
      QuantiTect SYBR Green Assays in human, mouse, rat POR
      QuantiFast Probe-based Assays in human, mouse, rat POR

    Additional mRNA sequence: 

    AB051763.1 AB209874.1 AF258341.1 AK129978.1 AK290529.1 AK293194.1 AK296096.1 AK296639.1 
    AK304511.1 AK312543.1 BC034277.1 BX648619.1 S90469.1 

    Selected DOTS entries (see all 31):

    DT.454059  DT.100670935  DT.95348106  DT.100670950  DT.97860576  DT.121058987  DT.97804833  DT.100670931 
    DT.100670932  DT.121058884  DT.100858239  DT.121059045  DT.121059011  DT.121058927  DT.100642580  DT.100670938 
    DT.97837884  DT.100037952  DT.101985353  DT.121058946  DT.40307422  DT.404401  DT.97860574  DT.100864295 

    Selected AceView cDNA sequences (see all 498):

    BQ644488 CR610590 BP367783 CR590488 CA441934 AL525045 AI660469 AL528223 
    BX483095 BM742635 BM126953 AA410787 AI660549 BM682541 CR613407 AW263435 
    T29293 BI819768 R75800 CB117678 BM726108 CD671670 BX324829 BQ690874 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POR (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ·
    SP1:                                                                    -     -           -                 -                 -                       -     -   
    SP2:                                                                    -     -           -                 -                 -                       -     -   
    SP3:                                                                    -     -           -                 -                 -     -                 -     -   
    SP4:                    -     -     -     -     -     -                 -     -           -                 -                 -                                 
    SP5:                                      -     -     -                 -     -           -                 -                                                   

    ExUns: 15c ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b
    SP1:                                      -                                             
    SP2:                                      -                                             
    SP3:                                      -                                             
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for POR

    (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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    POR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTGGAGG
    POR Expression
    About this image


    POR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Adrenal Gland (Endocrine System)    fully expand to see all 3 entries
             adrenal gland ; glandular cells   
             gland/adrenal gland/medulla   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
    POR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.354056
        Pathway & Disease-focused RT2 Profiler PCR Array including POR: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR

    (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 eukaryotes.

    Orthologs for POR gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Por1 , 5 P450 (cytochrome) oxidoreductase1, 5 86.41(n)1
    92.17(a)1
      5 (75.34 cM)5
    189841  NM_008898.11  NP_032924.11 
     1356700335 
    chicken
    (Gallus gallus)
    Aves POR1 P450 (cytochrome) oxidoreductase 78.86(n)
    82.96(a)
      417520  NM_001195796.1  NP_001182725.1 
    lizard
    (Anolis carolinensis)
    Reptilia POR6
    P450 (cytochrome) oxidoreductase
    81(a)
    1 ↔ 1
    GL343734.1(130072-142398)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC690292 hypothetical protein MGC69029 77.17(n)    BC059318.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056767.12   -- 77.89(n)   327556  BC056767.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cpr1 , 3 electron transport
    NADPH-ferrihemoprotein reductase3
    Cytochrome P450 reductase1
    58(a)3
    63.12(n)1
    57.49(a)1
      2 26C33
    338831  NM_001273199.11  NP_001260128.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K10D2.63
    emb-81
    NADPH-cytochrome P4503
    emb-81
    50(a)3
    51.83(n)1
    49.61(a)1
      III(5268752-5271444)3
    1757101  NM_065702.51  NP_498103.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCP11 NCP1 48.57(n)
    36.94(a)
      856438   NP_011908.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATR21 ATR2 48.23(n)
    40.55(a)
      829144  NM_179141.2  NP_849472.2 
    rice
    (Oryza sativa)
    Liliopsida Os.276822 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.23(n)    AK068915.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POR gene
    NOS32  NOS22  MTRR2  NOS12  
    3 SIMAP similar genes for POR using alignment to 10 protein entries:     NCPR_HUMAN (see all proteins):
    DKFZp686G04235    NOS3    NDOR1

    POR 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), 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 POR (see all 1875)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0211584
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211582 C Y mis40--------
    VAR_0211604
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211602 V F mis40--------
    VAR_0211554
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211552 A P mis40--------
    VAR_0211544
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211542 Y D mis40--------
    VAR_0211594
    Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)4--see VAR_0211592 Y C mis40--------
    VAR_0211574
    Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)4--see VAR_0211572 V E mis40--------
    VAR_0211564
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211562 R H mis40--------
    rs725527711,2
    Cpathogenic178917537(+) AGACCG/TACGAG 2 D Y mis10--------
    rs1219129741,2
    Cpathogenic178920012(+) TCCTGC/GCTGCA 2 P A mis10--------
    rs289316081,2
    C,Fpathogenic178921644(+) GGCCCG/ACTACT 2 /H /R mis1 ese37Minor allele frequency- A:0.00MN NA 1112

    HapMap Linkage Disequilibrium report for POR (75528518 - 75616173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for POR:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    esv2674423CNV Deletion23128226
    nsv528969CNV Gain19592680
    nsv428173CNV Gain18775914
    nsv824168CNV Gain20364138
    essv14753CNV CNV17122850
    dgv2103e1CNV Complex17122850
    dgv2104e1CNV Complex17122850

    The Human Cytochrome P450 Allele Nomenclature Database: POR 
    Human Gene Mutation Database (HGMD): POR
    Locus Specific Mutation Databases (LSDB): POR

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

    (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.)
    About This Section

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    OMIM gene information: 124015   
    OMIM disorders: 201750  613571  
    UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
  • Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A
    disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal
    genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the
    perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint
    contractures. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A
    disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and
    P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but
    their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes
    born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern
    seen in patients with Antley-Bixler syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for POR (see all 43):    
    About MalaCards
    disordered steroidogenesis due to cytochrome p450 oxidoreductase    cytochrome p450 oxidoreductase deficiency    antley-bixler syndrome with genital anomalies and disordered steroidogenesis    antley-bixler syndrome
    17-alpha-hydroxylase/17,20-lyase deficiency    amenorrhea    congenital adrenal hyperplasia    eastern equine encephalitis
    focal dermal hypoplasia    21-hydroxylase deficiency    skeletal dysplasias    addison's disease
    gynecomastia    craniosynostosis    synostosis    cushing's syndrome
    asperger syndrome    pandas    polycystic ovary syndrome    encephalitis

    1 disease from the University of Copenhagen DISEASES database for POR:
    Antley-Bixler syndrome

    POR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for POR gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    antley-bixler syndrome 92.1 22 16998238 (2), 15793702 (2), 18630181 (2), 16467261 (1), 17960482 (1), 15483095 (1), 15316970 (1), 16915000 (1), 16684658 (1), 16906539 (1), 18455494 (1), 15264278 (1), 20124576 (1) (see top 4)
    adrenal hyperplasia congenital 67.4 14 15666853 (2), 16915000 (2), 18493134 (1), 18493133 (1), 15220035 (1), 19884324 (1), 18853185 (1), 17223983 (1), 17505056 (1), 16906539 (1) (see top 4)
    virilization 55.7 2 19258400 (1), 15316970 (1)
    lipoid congenital adrenal hyperplasia 46.8 1 15817507 (1)
    craniosynostosis 40.7 5 16467261 (2), 18493134 (1)
    skeletal dysplasia 31.2 2 19258400 (1), 16103714 (1)
    adenoma adrenocortical 30.6 1 8496319 (1)
    colon carcinoma 20.8 1 8162587 (1)
    polycystic ovary syndrome 18.4 2 16103714 (1), 16915000 (1)
    addisons disease 8.25 1 15817507 (1)

    GeneTests: POR
    GeneReviews: POR
    Genetic Association Database (GAD): POR
    Human Genome Epidemiology (HuGE) Navigator: POR (51 documents)

    Export disorders for POR 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 POR gene, integrated from 10 sources (see all 580):
    (articles sorted by number of sources associating them with POR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. (PubMed id 18551037)1, 4, 9 Agrawal V....Miller W.L. (Pharmacogenet. Genomics 2008)
    2. Pharmacogenomics of human liver cytochrome P450 oxidoreductase: multifactorial analysis and impact on microsomal drug oxidation. (PubMed id 19374516)1, 4, 9 Gomes A.M....Zanger U.M. (Pharmacogenomics 2009)
    3. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (PubMed id 15264278)1, 2, 9 Adachi M.... Oka A. (Am. J. Med. Genet. A 2004)
    4. The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. (PubMed id 18397975)1, 4, 9 Gomes L.G....Miller W.L. (J. Clin. Endocrinol. Metab. 2008)
    5. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PubMed id 14758361)1, 2, 9 Flueck C.E.... Miller W.L. (Nat. Genet. 2004)
    6. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. (PubMed id 19258400)1, 4, 9 Fukami M....Ogata T. (J. Clin. Endocrinol. Metab. 2009)
    7. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (PubMed id 15483095)1, 2, 9 Fukami M.... Ogata T. (J. Clin. Endocrinol. Metab. 2005)
    8. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PubMed id 15220035)1, 2, 9 Arlt W.... Shackleton C.H.L. (Lancet 2004)
    9. Crystal structure of the FMN-binding domain of human cytochrome P450 reductase at 1.93 A resolution. (PubMed id 10048323)1, 2, 9 Zhao Q.... Driessen H.P. (Protein Sci. 1999)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (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: 5447 HGNC: 9208 AceView: POR Ensembl:ENSG00000127948 euGenes: HUgn5447
    ECgene: POR H-InvDB: POR

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for POR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POR Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POR[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/por/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POR gene:
    Search GeneIP for patents involving POR

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



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