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BLVRB Gene

protein-coding   GIFtS: 62
GCID: GC19M040953

Biliverdin Reductase B (Flavin Reductase (NADPH))

(Previous name: Flavin reductase)
(Previous symbol: FLR)
Microbiology & Infectious Diseases Congress
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(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
Biliverdin Reductase B (Flavin Reductase (NADPH))1 2     Member 11
FLR1 2 3 5     Short Chain Dehydrogenase/Reductase Family 43U1
Biliverdin-IX Beta-Reductase2 3     HEL-S-102
Green Heme-Binding Protein2 3     SDR43U12
BVR-B2 3     Epididymis Secretory Protein Li 102
FR2 3     Flavin Reductase (NADPH)2
GHBP2 3     Short Chain Dehydrogenase/Reductase Family 43U, Member 12
NADPH-Dependent Diaphorase2 3     EC 1.3.1.243
NADPH-Flavin Reductase2 3     EC 1.5.1.303
BVRB2 5     Biliverdin Reductase B3
Flavin Reductase1     

External Ids:    HGNC: 10631   Entrez Gene: 6452   Ensembl: ENSG000000900137   OMIM: 6009415   UniProtKB: P300433   

Export aliases for BLVRB gene to outside databases

Previous GC identifers: GC19M041593 GC19M041345 GC19M045629 GC19M045645 GC19M037389


(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 BLVRB Gene:
The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B
(EC 1.3.1.24).(supplied by OMIM, Jul 2009)

GeneCards Summary for BLVRB Gene:
BLVRB (biliverdin reductase B (flavin reductase (NADPH))) is a protein-coding gene. Diseases associated with BLVRB include cauda equina syndrome, and klatskin's tumor. GO annotations related to this gene include riboflavin reductase (NADPH) activity and biliverdin reductase activity.

UniProtKB/Swiss-Prot: BLVRB_HUMAN, P30043
Function: Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins,
such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to
heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the
presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin




(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_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the BLVRB gene promoter:
         Egr-3   AML1a   MAZR   Bach2   Meis-1b   Egr-4   PPAR-gamma1   Ik-2   SEF-1 (1)   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLVRB promoter sequence
   Search Chromatin IP Primers for BLVRB

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


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

Entrez Gene cytogenetic band: 19q13.1-q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1-q13.2

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M040953:  view genomic region     (about GC identifiers)

Start:
40,953,691 bp from pter      End:
40,971,747 bp from pter
Size:
18,057 bases      Orientation:
minus 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BLVRB_HUMAN, P30043 (See protein sequence)
Recommended Name: Flavin reductase (NADPH)  
Size: 206 amino acids; 22119 Da
Subunit: Monomer
5 PDB 3D structures from and Proteopedia for BLVRB:
1HDO (3D)        1HE2 (3D)        1HE3 (3D)        1HE4 (3D)        1HE5 (3D)    
Secondary accessions: A6NKD8 B2R5C6 P32078 P53005 Q32LZ2

Explore the universe of human proteins at neXtProt for BLVRB: NX_P30043

Explore proteomics data for BLVRB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys178
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000704.1  
    ENSEMBL proteins: 
     ENSP00000471720   ENSP00000263368   ENSP00000470619  
    Reactome Protein details: P30043

    BLVRB Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRA: Short chain dehydrogenase/reductase superfamily / Atypical members

    1 InterPro protein domain:
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P30043

    ProtoNet protein and cluster: P30043


    BLVRB 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: BLVRB_HUMAN, P30043
    Function: Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins,
    such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to
    heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the
    presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin
    Catalytic activity: Reduced riboflavin + NADP(+) = riboflavin + NADPH
    Catalytic activity: Bilirubin + NAD(P)(+) = biliverdin + NAD(P)H
    Enzyme regulation: Mesobiliverdin acts as competitve inhibitor for flavin reduction, indicating that flavin and
    tetrapyrrole substrates compete for the same site
    Biophysicochemical properties: Kinetic parameters: KM=36 uM for NADP; KM=5.6 mM for NADH; KM=0.3 uM for biliverdin
    IX-beta; KM=52 uM for FMN; KM=125 uM for FAD; KM=53 uM for riboflavin;

         Genatlas biochemistry entry for BLVRB:
    biliverdin reductase IX beta (21kDa),expressed in fetal liver

         Enzyme Numbers (IUBMB): EC 1.3.1.241 EC 1.5.1.301

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity ----
    GO:0004074biliverdin reductase activity IDA7929092
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0042602riboflavin reductase (NADPH) activity IDA11224564
         
    BLVRB for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BLVRB
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BLVRB

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    miRTarBase miRNAs that target BLVRB:
    hsa-mir-26b-5p (MIRT029434)

    Block miRNA regulation of human, mouse, rat BLVRB using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate BLVRB:
    hsa-miR-127-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    (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
    BLVRB_HUMAN, P30043: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus4
    plasma membrane4
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    BLVRB 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 BLVRB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme degradation0.00
    Porphyrin and chlorophyll metabolism0.56
    heme degradation0.00
    2Metabolism
    Metabolism0.38
    3Riboflavin metabolism
    Riboflavin metabolism
    4Methylene Blue Pathway, Pharmacodynamics
    Methylene Blue Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for BLVRB
        heme degradation


    1 Reactome Pathway for BLVRB
        Heme degradation

    1 PharmGKB Pathway for BLVRB
        Methylene Blue Pathway, Pharmacodynamics

    2 Kegg Pathways  (Kegg details for BLVRB):
        Riboflavin metabolism
    Porphyrin and chlorophyll metabolism


    BLVRB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including BLVRB: 
              Drug Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BLVRB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for BLVRB (P300433 ENSP000002633684) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMOX1P096013, ENSP000002161174I2D: score=2 STRING: ENSP00000216117
    VTA1Q9NP793I2D: score=5 
    HMOX2ENSP000002197004STRING: ENSP00000219700
    UGT1A1ENSP000003048454STRING: ENSP00000304845
    UGT1A10ENSP000003438384STRING: ENSP00000343838
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process ----
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0042167heme catabolic process TAS--
    GO:0044237cellular metabolic process ----
    GO:0044281small molecule metabolic process TAS--

    BLVRB 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 BLVRB

    Selected HMDB Compounds for BLVRB (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid2-KDN (see all 18)22594-61-2--
    Bilirubin(4Z,15Z)-Bilirubin IXa (see all 17)635-65-4--
    Biliverdin1,3,6,7-Tetramethyl-4,5-dicarboxyethyl-2,8-divinylbilenone (see all 7)114-25-0--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    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--
    Riboflavin(-)-Riboflavin (see all 30)83-88-5--

    7 DrugBank Compounds for BLVRB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    7,8-dimethylalloxazine6,7-Dimethylalloxazine (see all 5)1086-80-2target--17139284 17016423 10592235
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423
    Biliverdine Ix Alpha-- 114-25-0target--17139284 17016423
    Mesobiliverdin Iv Alpha-- --target--17139284 17016423
    RiboflavinLactoflavin (see all 9)83-88-5targetproduct of16544142 14769034
    Riboflavin Monophosphate-- 146-17-8target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17559398

    Selected Novoseek inferred chemical compound relationships for BLVRB gene (see all 62)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 88.3 410 7682296 (9), 9049638 (9), 7690549 (8), 1715581 (6) (see all 99)
    nitric oxide 84.9 313 1715581 (5), 9279000 (4), 1381231 (3), 9015324 (3) (see all 99)
    flavin 72.7 58 8687377 (4), 8880927 (4), 10620517 (4), 8118169 (3) (see all 29)
    mesobiliverdin 72.6 2 10620517 (1), 11224564 (1)
    biliverdin 62.2 28 11224564 (4), 19614742 (2), 20157261 (2), 7588789 (2) (see all 8)
    citrulline 56.8 5 9866213 (1), 16838367 (1), 10544274 (1), 10475572 (1) (see all 5)
    quinolinic acid 56.2 3 10392842 (2)
    nitroblue tetrazolium 50.5 5 1380405 (1), 1377664 (1), 7587820 (1), 9817372 (1) (see all 5)
    cgmp 50.2 7 11719542 (1), 9106231 (1), 1378218 (1), 9111039 (1) (see all 6)
    arginine 48.5 5 1377664 (2), 7581050 (2), 8402187 (1)

    1 PharmGKB related drug/compound annotation for BLVRB gene    About this table
    Drug/compound PharmGKB Annotation
    methylene blue



    BLVRB 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,
    Conferences by KenesGroup, 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 BLVRB gene: 
    NM_000713.2  

    Unigene Cluster for BLVRB:

    Biliverdin reductase B (flavin reductase (NADPH))
    Hs.515785  [show with all ESTs]
    Unigene Representative Sequence: BF341546
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595483 ENST00000263368(uc002onw.2) ENST00000601346 ENST00000597870

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-127-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BLVRB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BLVRB
      QuantiTect SYBR Green Assays in human, mouse, rat BLVRB
      QuantiFast Probe-based Assays in human, mouse, rat BLVRB

    Additional mRNA sequence: 

    AK312137.1 BC109371.1 D26308.1 D32143.1 

    10 DOTS entries:

    DT.418629  DT.91766994  DT.121496163  DT.121496162  DT.100044994  DT.95127355  DT.97868295  DT.121496161 
    DT.75153842  DT.95144139 

    Selected AceView cDNA sequences (see all 348):

    AI159852 CA421390 AI572269 CF128963 CB107277 BU615867 BM142606 CF129848 
    BU625271 BM666376 BM783944 BM827326 BQ226849 BM700652 BU543189 R29484 
    AW963989 BG576007 CD672425 BI754741 BM747052 BM789418 AW510785 AI096873 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BLVRB (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:                                            -     -                           
    SP2:                                      -     -     -                           
    SP3:                                            -     -           -               
    SP4:                                            -     -     -                     
    SP5:                                                                              


    ECgene alternative splicing isoforms for BLVRB

    (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)
    About This Section

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


    BLVRB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    BLVRB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLVRB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515785

    UniProtKB/Swiss-Prot: BLVRB_HUMAN, P30043
    Tissue specificity: Predominantly expressed in liver and erythrocytes. At lower levels in heart, lung, adrenal
    gland and cerebrum

        Pathway & Disease-focused RT2 Profiler PCR Array including BLVRB: 
              Drug Metabolism in human mouse rat

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

    Orthologs for BLVRB gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Blvrb1 , 5 biliverdin reductase B (flavin reductase (NADPH))1, 5 89.27(n)1
    93.66(a)1
      7 (15.90 cM)5
    2330161  NM_144923.31  NP_659172.11 
     274479785 
    lizard
    (Anolis carolinensis)
    Reptilia BLVRB6
    biliverdin reductase B (flavin reductase (NADPH))
    60(a)
    1 ↔ 1
    LGf(2088296-2106706)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.39362 Transcribed sequence with weak similarity to protein more 73.3(n)    BQ526703.1 
    zebrafish
    (Danio rerio)
    Actinopterygii blvrb2 biliverdin reductase B (flavin reductase (NADPH)) 75.09(n)   322796  CF997500.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG94711 , 3 NADPH dehydrogenase3
    CG94711
    38(a)3
    48.77(n)1
    38.95(a)1
      85E83
    411971  NM_141686.31  NP_649943.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLVRB gene

    BLVRB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BLVRB
    PGOHUM00000237616


    (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 BLVRB (see all 57)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs786002751,2
    C--40953378(+) AACACA/GGTGAA 1 -- int12Minor allele frequency- G:0.33NA CSA 3
    rs1997230241,2
    C--40953406(+) AAATA-/AAAAAA 1 -- int10--------
    rs621069811,2
    C,F--40956244(+) CGTCTC/GTATTA 1 -- int13Minor allele frequency- G:0.33NA WA 6
    rs1814286621,2
    --40956275(+) AGGTGA/TGGTGG 1 -- int10--------
    rs1131058041,2
    C,F--40956282(+) GTGGCG/AGGCGC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1857238261,2
    --40956290(+) CGCCTA/GTAGTC 1 -- int10--------
    rs1896993391,2
    --40956335(+) TTTCAC/TCATGT 1 -- int10--------
    rs2018060851,2
    C--40956616(+) TTTTT-/TGTAGA 1 -- int10--------
    rs730481171,2
    C--40956646(+) AGTCTA/GTGTTG 1 -- int13Minor allele frequency- G:0.19NA WA 240
    rs1826423021,2
    --40956692(+) CCTCCC/TGTCTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for BLVRB (40953691 - 40971747 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BLVRB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658680CNV Deletion23128226
    dgv3867n71CNV Loss21882294
    nsv911709CNV Loss21882294
    nsv833831CNV Loss17160897
    nsv911711CNV Loss21882294
    dgv3868n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600941    OMIM disorders: --

    Selected diseases for BLVRB (see all 61):    About MalaCards
    cauda equina syndrome    klatskin's tumor    tricuspid valve insufficiency    achalasia
    placental insufficiency    methemoglobinemia    intestinal atresia    pyloric stenosis
    scrapie    hypertrophic pyloric stenosis    impotence    obstructive jaundice
    megacolon    central precocious puberty    varicocele    hirschsprung's disease
    acquired immunodeficiency syndrome    pulmonary emphysema    precocious puberty    huntington's disease

    1 disease from the University of Copenhagen DISEASES database for BLVRB:
    Methemoglobinemia

    BLVRB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for BLVRB gene (see all 27)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hirschsprung disease 68.3 12 10370021 (2), 8176609 (2), 9716671 (2), 9037316 (1) (see all 8)
    motility disorder 52.2 1 9593349 (1)
    huntington disease 51.2 11 7682296 (6), 7998138 (1), 10486177 (1), 1830613 (1) (see all 6)
    pyloric stenosis 46.7 5 1378938 (1), 7541835 (1), 7546628 (1)
    achalasia 34.8 7 7533833 (4), 9052511 (1), 7546628 (1), 8783106 (1)
    neurodegeneration 34.5 6 7682296 (1), 7513843 (1), 8845972 (1), 15043712 (1) (see all 6)
    neuropathology 26.5 2 7682296 (1), 7530153 (1)
    amyotrophic lateral sclerosis 20.8 3 9973230 (1), 8396837 (1), 9300647 (1)
    dysplasia 16.3 1 11479879 (1)
    methemoglobinemia 15 1 7937764 (1)


    Export disorders for BLVRB 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 BLVRB gene, integrated from 10 sources (see all 466):
    (articles sorted by number of sources associating them with BLVRB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evidence that biliverdin-IX beta reductase and flavin reductase are identical. (PubMed id 8687377)1, 2, 9 Shalloe F.... Mantle T.J. (Biochem. J. 1996)
    2. Structure of human biliverdin IXbeta reductase, an early fetal bilirubin IXbeta producing enzyme. (PubMed id 11224564)1, 2, 9 Pereira P.J.... Coll M. (Nat. Struct. Biol. 2001)
    3. Mapping of the newly identified biliverdin-IX beta reductase gene (BLVRB) to human chromosome 19q13.13--&gt;q13.2 by fluorescence in situ hybridization. (PubMed id 7656592)1, 3, 9 Saito F....Nakajima H. (Cytogenet. Cell Genet. 1995)
    4. Molecular cloning and expression of human liver biliverdin-IXbeta reductase. (PubMed id 8799475)1, 2, 9 Komuro A.... Tomita M. (Biol. Pharm. Bull. 1996)
    5. Complete amino acid sequence of biliverdin-IX beta reductase from human liver. (PubMed id 8280170)1, 2, 9 Yamaguchi T.... Nakajima H. (Biochem. Biophys. Res. Commun. 1993)
    6. Computational and experimental studies on the catalytic mechanism of biliverdin-IXbeta reductase. (PubMed id 18241201)1, 2, 9 Smith L.J.... Mantle T.J. (Biochem. J. 2008)
    7. Biliverdin-IX alpha reductase and biliverdin-IX beta reductase from human liver. Purification and characterization. (PubMed id 7929092)1, 2, 9 Yamaguchi T.... Nakajima H. (J. Biol. Chem. 1994)
    8. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    9. 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. (Genome Res. 2004)
    10. Cloning and nucleotide sequence of a cDNA of the human erythrocyte NADPH-flavin reductase. (PubMed id 8117274)1, 2 Chikuba K.... Takeshita M. (Biochem. Biophys. Res. Commun. 1994)

    (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: 645 HGNC: 1063 AceView: BLVRB Ensembl:ENSG00000090013 euGenes: HUgn645
    ECgene: BLVRB Kegg: 645 H-InvDB: BLVRB

    (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 BLVRB Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/blvrb/

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

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



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