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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BLVRB Gene

protein-coding   GIFtS: 56
GCID: GC19M040953

biliverdin reductase B (flavin reductase (NADPH))

(Previous name: Flavin reductase )
(Previous symbol: FLR)
 Explore 67 diseases affiliated with
BLVRB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BLVRB    

Aliases
for BLVRB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Biliverdin Reductase B (Flavin Reductase (NADPH))1 2     NADPH-Flavin Reductase2 3
FLR1 2 3 5     BVRB2 5
SDR43U11 2     Flavin Reductase1
Biliverdin-IX Beta-Reductase2 3     Flavin Reductase (NADPH)2
Green Heme-Binding Protein2 3     Short Chain Dehydrogenase/Reductase Family 43U, Member 12
BVR-B2 3     EC 1.3.1.243
FR2 3     EC 1.5.1.303
GHBP2 3     Biliverdin Reductase B3
NADPH-Dependent Diaphorase2 3     

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


Summaries
for BLVRB gene

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

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




Genomic Views
for BLVRB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 plasmid: BLVRB promoter sequence
   Search SABiosciences Chromatin IP Primers for BLVRB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 40,971,725 bp from pter
Size:
 18,035 bases      Orientation:
 minus strand

Proteins
for BLVRB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: BLVRB_HUMAN, P30043 (See protein sequence)
Recommended Name: Flavin reductase (NADPH)  
Size: 206 amino acids; 22119 Da
Subunit: Monomer
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P30043

    • BLVRB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000704.1  
    ENSEMBL proteins: 
     ENSP00000263368  
    Reactome Protein details: P30043
    Human Recombinant Protein Products: 
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    Uscn Proteins for BLVRB

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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    Protein Domains /
    Families
    for BLVRB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BLVRB for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P30043

    ProtoNet protein and cluster: P30043


    Function
    for BLVRB gene

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

         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
    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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate BLVRB:
    hsa-miR-127-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0004074biliverdin reductase activity IDA7929092
    GO:0042602riboflavin reductase (NADPH) activity IDA11224564


    BLVRB for ontologies           About GeneDecksing



    Pathways & Interactions
    for BLVRB gene

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

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1heme degradation
    		heme degradation1.00
    		Heme degradation0.80
    2Metabolism
    		Metabolism1.00
    3Methylene Blue Pathway, Pharmacodynamics
    		Methylene Blue Pathway, Pharmacodynamics1.00
    4Riboflavin metabolism
    		Riboflavin metabolism1.00
    5heme biosynthesis II
    		Metabolism of porphyrins0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for BLVRB 
        heme degradation

    3        Reactome Pathways for BLVRB
        Metabolism of porphyrins
    Metabolism
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BLVRB

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

    5/25 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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0042167heme catabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    BLVRB for ontologies           About GeneDecksing



    Drugs & Compounds
    for BLVRB gene

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

    BLVRB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BLVRB

    10/11 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

    10/62 Novoseek 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
    Drug/compound PharmGKB Annotation
    methylene blueDL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about BLVRB 

    Transcripts
    for BLVRB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000263368(uc002onw.2)

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    Additional cDNA 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 

    24/348 AceView cDNA sequences (see all 348):

    AI572269 BQ073700 CA421390 AA232947 BM666376 CD672425 BM747052 BM795822 
    CA439450 BU164235 BG576007 BM695200 BQ226849 CF128963 BQ669456 AU100362 
    BM984541 CR591609 BQ230009 CD679508 F35505 BM979390 AA468770 BP347467 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for BLVRB gene

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

    BLVRB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGAGCAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BLVRB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePerivenous HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

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

    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

        SABiosciences Expression via Pathway-Focused PCR Array including BLVRB: 
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    In Situ
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    Orthologs
    for BLVRB gene

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

    Orthologs for BLVRB gene from 5/18 species (see all 18)    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
    		 --
    		 70(a)
    		 1 ↔ 1
    		 LGf(2088642-2102726)
    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_001104259.11  NP_001097729.11 


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

    Paralogs
    for BLVRB gene

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

    BLVRB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BLVRB
    PGOHUM00000237616


    Genomic Variants
    for BLVRB gene

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

    10/336 NCBI SNPs in BLVRB are shown (see all 336)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs102811,2
    		C,F,H--37389188(-) AGGGTG/AGCATT 1 -- int15Minor allele frequency- A:0.01MN NS NA 456
    rs124598901,2
    		C,F,H,--37389479(+) GCCTGG/TGTGGT 1 -- int117Minor allele frequency- T:0.03NS EA NA 1618
    rs573580591,2
    		C,F,--37390902(+) ACTAAA/GTGATA 1 -- int12Minor allele frequency- G:0.07WA NA 238
    rs124606341,2
    		C,H,--37390952(+) TTTGTG/ATGCAA 1 -- int14Minor allele frequency- A:0.00NS EA 418
    rs124606181,2
    		C,H,--37391017(+) tgttgC/Taattc 1 -- int10--------
    rs21261211,2
    		--37392040(-) aaaatA/Ggtaaa 1 -- int10--------
    rs454828911,2
    		C,F,--37392133(-) AAAATT/CGCAAA 1 -- int12Minor allele frequency- C:0.01NS WA 294
    rs37452071,2
    		C,F,H--37392323(+) GCAGTC/TGTGGG 1 -- int1 ese39Minor allele frequency- T:0.01NS EA NA 1058
    rs413570451,2
    		C,F,--37392972(-) GAACTG/AATAGG 1 -- int19Minor allele frequency- A:0.05NS WA NA 896
    rs1135539261,2
    		--37393097(+) CACTCG/TCTCTT 1 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for BLVRB (40953691 - 40971725 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BLVRB: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BLVRB
    DNA2.0 Custom Variant and Variant Library Synthesis for BLVRB

    Disorders / Diseases
    for BLVRB gene

    (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
    BLVRB for disorders           About GeneDecksing

    OMIM gene information: 600941    OMIM disorders: --

    20/67 diseases for BLVRB (see all 67):    About MalaCards
    pyloric stenosis    cauda equina syndrome    tricuspid valve insufficiency    hypertrophic pyloric stenosis
    amyotrophic lateral sclerosis    precocious puberty    mitochondrial encephalomyopathy    methemoglobinemia
    lateral sclerosis    placental insufficiency    intractable epilepsy    intestinal atresia
    achalasia    klatskin's tumor    hirschsprung's disease    oral squamous cell carcinoma
    acquired immunodeficiency syndrome    obstructive jaundice    encephalomyopathy    squamous cell carcinoma

    10/27 Novoseek 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

    Publications
    for BLVRB gene

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

    PubMed articles for BLVRB gene, integrated from 9 sources (see all 462):
    (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. (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. (2001)
    3. Mapping of the newly identified biliverdin-IX beta reductase gene (BLVRB) to human chromosome 19q13.13-->q13.2 by fluorescence in situ hybridization. (PubMed id 7656592)1, 3, 9 Saito F....Nakajima H. (1995)
    4. Molecular cloning and expression of human liver biliverdin-IXbeta reductase. (PubMed id 8799475)1, 2, 9 Komuro A.... Tomita M. (1996)
    5. Complete amino acid sequence of biliverdin-IX beta reductase from human liver. (PubMed id 8280170)1, 2, 9 Yamaguchi T.... Nakajima H. (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. (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. (1994)
    8. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (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. (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. (1994)

    External Searches for BLVRB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BLVRB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 645 HGNC: 1063 AceView: BLVRB Ensembl:ENSG00000090013 euGenes: HUgn645
    ECgene: BLVRB Kegg: 645 H-InvDB: BLVRB

    Other Databases showing BLVRB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BLVRB gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BLVRB Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/blvrb/

    Intellectual Property
    for BLVRB gene

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