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] See more...

Aliases for BLVRB Gene

Aliases for BLVRB Gene

  • Biliverdin Reductase B 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 43U, Member 1 2 3
  • Biliverdin-IX Beta-Reductase 3 4
  • NADPH-Dependent Diaphorase 3 4
  • Green Heme-Binding Protein 3 4
  • Flavin Reductase (NADPH) 3 4
  • NADPH-Flavin Reductase 3 4
  • SDR43U1 2 3
  • BVR-B 3 4
  • GHBP 3 4
  • FLR 3 4
  • FR 3 4
  • Biliverdin Reductase B (Flavin Reductase (NADPH)) 2
  • Epididymis Secretory Protein Li 10 3
  • (Flavin Reductase (NADPH)) 2
  • Flavin Reductase 2
  • EC 1.5.1.30 4
  • EC 1.3.1.24 4
  • HEL-S-10 3
  • BLVRB 5
  • BVRB 3

External Ids for BLVRB Gene

Previous HGNC Symbols for BLVRB Gene

  • FLR

Previous GeneCards Identifiers for BLVRB Gene

  • GC19M041593
  • GC19M041345
  • GC19M045629
  • GC19M045645
  • GC19M040953
  • GC19M037389

Summaries for BLVRB Gene

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) is a Protein Coding gene. Diseases associated with BLVRB include Cauda Equina Syndrome and Pyloric Stenosis. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity.

UniProtKB/Swiss-Prot Summary for BLVRB Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BLVRB Gene

Genomics for BLVRB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BLVRB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J040462 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 252.6 +0.3 287 5 SP1 MYC ZNF654 NCOR1 IKZF1 ZNF600 JUND ZNF580 ZNF592 ZMYM3 BLVRB SPTBN4 ENSG00000269843 SNRPA HNRNPUL1 AKT2 CCDC97 FBL SERTAD3 ZNF780A
GH19J040818 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 4.9 -352.9 -352914 1.3 ZNF223 NFIC ZIC2 ZBTB10 ZNF341 ZNF217 KLF9 CTBP1 ZNF610 RXRA ZNF546 CYP2G1P ZNF780B EGLN2 C19orf54 ITPKC BLVRB piR-43051 CYP2F2P CYP2T1P
GH19J040821 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 4.2 -357.5 -357450 2.7 ZNF600 MYC NCOR1 IKZF1 ZNF592 CEBPA ATF3 NFIC YY1 NONO piR-43051 ENSG00000269843 ZNF780B AKT2 NUMBL HNRNPUL1 SNRPA PSMC4 ZNF780A EGLN2
GH19J040553 Enhancer 0.5 Ensembl 11.9 -88.4 -88404 0.6 ZNF316 NRF1 EGR2 ZBTB6 POLR2A ZFHX2 EZH2 SPTBN4 BLVRB HIPK4 KR153194-090 SHKBP1 piR-48759-159
GH19J040830 Enhancer 1.2 ENCODE dbSUPER 4.4 -367.0 -367023 4.6 IKZF1 NCOR1 ZNF600 ZNF580 ZNF592 ATF2 CEBPA ATF3 ZNF10 NFIC SNRPA ENSG00000269843 HNRNPUL1 ZNF780B FBL ITPKC CYP2G1P ZNF546 CCDC97 COQ8B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BLVRB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BLVRB

Top Transcription factor binding sites by QIAGEN in the BLVRB gene promoter:
  • AML1a
  • Bach2
  • Egr-3
  • Egr-4
  • Ik-2
  • MAZR
  • Meis-1b
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)

Genomic Locations for BLVRB Gene

Latest Assembly
chr19:40,447,765-40,465,764
(GRCh38/hg38)
Size:
18,000 bases
Orientation:
Minus strand

Previous Assembly
chr19:40,953,675-40,971,652
(GRCh37/hg19 by Entrez Gene)
Size:
17,978 bases
Orientation:
Minus strand

chr19:40,953,696-40,971,747
(GRCh37/hg19 by Ensembl)
Size:
18,052 bases
Orientation:
Minus strand

Genomic View for BLVRB Gene

Genes around BLVRB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLVRB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLVRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLVRB Gene

Proteins for BLVRB Gene

  • Protein details for BLVRB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30043-BLVRB_HUMAN
    Recommended name:
    Flavin reductase (NADPH)
    Protein Accession:
    P30043
    Secondary Accessions:
    • A6NKD8
    • B2R5C6
    • P32078
    • P53005
    • Q32LZ2

    Protein attributes for BLVRB Gene

    Size:
    206 amino acids
    Molecular mass:
    22119 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for BLVRB Gene

neXtProt entry for BLVRB Gene

Post-translational modifications for BLVRB Gene

  • Ubiquitination at Lys178
  • Modification sites at PhosphoSitePlus

Other Protein References for BLVRB Gene

No data available for DME Specific Peptides for BLVRB Gene

Domains & Families for BLVRB Gene

Gene Families for BLVRB Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BLVRB Gene

Suggested Antigen Peptide Sequences for BLVRB Gene

GenScript: Design optimal peptide antigens:
  • NADPH-flavin reductase (BLVRB_HUMAN)
genes like me logo Genes that share domains with BLVRB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BLVRB Gene

Function for BLVRB Gene

Molecular function for BLVRB Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + reduced riboflavin = 2 H(+) + NADPH + riboflavin; Xref=Rhea:RHEA:19377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17607, ChEBI:CHEBI:57783, ChEBI:CHEBI:57986, ChEBI:CHEBI:58349; EC=1.5.1.30; Evidence={ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:18241201};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=bilirubin IXalpha + NAD(+) = biliverdin IXalpha + H(+) + NADH; Xref=Rhea:RHEA:15797, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:57977, ChEBI:CHEBI:57991; EC=1.3.1.24; Evidence={ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:18241201, ECO:0000269|PubMed:7929092};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=bilirubin IXalpha + NADP(+) = biliverdin IXalpha + H(+) + NADPH; Xref=Rhea:RHEA:15793, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:57977, ChEBI:CHEBI:57991, ChEBI:CHEBI:58349; EC=1.3.1.24; Evidence={ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:18241201, ECO:0000269|PubMed:7929092};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=36 uM for NADP {ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:7929092}; KM=5.6 mM for NADH {ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:7929092}; KM=0.3 uM for biliverdin IX-beta {ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:7929092}; KM=52 uM for FMN {ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:7929092}; KM=125 uM for FAD {ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:7929092}; KM=53 uM for riboflavin {ECO:0000269|PubMed:10620517, ECO:0000269|PubMed:7929092};
UniProtKB/Swiss-Prot EnzymeRegulation:
Mesobiliverdin acts as competitve inhibitor for flavin reduction, indicating that flavin and tetrapyrrole substrates compete for the same site.
GENATLAS Biochemistry:
biliverdin reductase IX beta (21kDa),expressed in fetal liver

Enzyme Numbers (IUBMB) for BLVRB Gene

Phenotypes From GWAS Catalog for BLVRB Gene

Gene Ontology (GO) - Molecular Function for BLVRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004074 biliverdin reductase activity TAS,IDA 7929092
GO:0005515 protein binding IPI 32296183
GO:0016491 oxidoreductase activity IEA --
GO:0042602 riboflavin reductase (NADPH) activity IEA,IDA 11224564
genes like me logo Genes that share ontologies with BLVRB: view
genes like me logo Genes that share phenotypes with BLVRB: view

Animal Models for BLVRB Gene

MGI Knock Outs for BLVRB:
  • Blvrb Blvrb<tm1(KOMP)Wtsi>

miRNA for BLVRB Gene

miRTarBase miRNAs that target BLVRB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLVRB

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BLVRB Gene

Localization for BLVRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLVRB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLVRB gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BLVRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0043195 terminal bouton IEA --
genes like me logo Genes that share ontologies with BLVRB: view

Pathways & Interactions for BLVRB Gene

genes like me logo Genes that share pathways with BLVRB: view

Pathways by source for BLVRB Gene

2 BioSystems pathways for BLVRB Gene
3 Reactome pathways for BLVRB Gene

Gene Ontology (GO) - Biological Process for BLVRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042167 heme catabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BLVRB: view

No data available for SIGNOR curated interactions for BLVRB Gene

Drugs & Compounds for BLVRB Gene

(42) Drugs for BLVRB Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Riboflavin Approved, Investigational, Vet_approved Nutra Target, product of 258
Methylene blue Approved, Investigational Pharma Enzyme, substrate 185
Flavin mononucleotide Approved, Investigational Pharma Target 14
FAD Approved Pharma 0

(33) Additional Compounds for BLVRB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 3-Deoxy-D-glycero-D-galacto-2-nonulosonate
  • 2-KDN
  • 2-Keto-3-deoxy-D-glycero-D-galacto-NONONate
  • 2-Keto-3-deoxy-D-glycero-D-galacto-NONONic acid
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonate
22594-61-2
FADH
  • 1,5-Dihydro-fad
  • DIHYDROFLAVINE-adenine dinucleotide
  • Flavin adenine dinucleotide (reduced)
  • 1,5-Dihydro-p-5-ester with adenosine
  • 1,5-Dihydro-riboflavin 5'-(trihydrogen diphosphate) p'->5'-ester with adenosine
1910-41-4
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Riboflavin reduced
  • 4a,5-Dihydroriboflavin
  • 4a,5-Dihydroriboflavine
  • 7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-4a,5-dihydroisoalloxazine
  • 7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-5,10-dihydrobenzo[g]pteridine-2,4(3H,4ah)-dione
  • Reduced riboflavin
101652-10-2
genes like me logo Genes that share compounds with BLVRB: view

Transcripts for BLVRB Gene

mRNA/cDNA for BLVRB Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLVRB

Alternative Splicing Database (ASD) splice patterns (SP) for BLVRB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5:
SP6:

Relevant External Links for BLVRB Gene

GeneLoc Exon Structure for
BLVRB

Expression for BLVRB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BLVRB Gene

mRNA differential expression in normal tissues according to GTEx for BLVRB Gene

This gene is overexpressed in Whole Blood (x7.4).

Protein differential expression in normal tissues from HIPED for BLVRB Gene

This gene is overexpressed in Spleen (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BLVRB Gene



Protein tissue co-expression partners for BLVRB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BLVRB

SOURCE GeneReport for Unigene cluster for BLVRB Gene:

Hs.515785

mRNA Expression by UniProt/SwissProt for BLVRB Gene:

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

Evidence on tissue expression from TISSUES for BLVRB Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Blood(4.4)
  • Pancreas(4.4)
  • Bone marrow(2.8)
  • Muscle(2.6)
  • Heart(2.6)
  • Spleen(2.4)
  • Kidney(2.4)
  • Intestine(2.4)
  • Skin(2.3)
  • Lung(2.3)
  • Thyroid gland(2.1)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with BLVRB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BLVRB Gene

Orthologs for BLVRB Gene

This gene was present in the common ancestor of animals.

Orthologs for BLVRB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BLVRB 29 30
  • 96.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BLVRB 29 30
  • 91.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BLVRB 29 30
  • 90.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Blvrb 29 16 30
  • 89.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Blvrb 29
  • 87.8 (n)
Oppossum
(Monodelphis domestica)
Mammalia BLVRB 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 71 (a)
OneToMany
-- 30
  • 47 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia BLVRB 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia blvrb 29
  • 63.3 (n)
Str.3936 29
Zebrafish
(Danio rerio)
Actinopterygii blvrb 29 29 30
  • 63.18 (n)
OneToMany
BLVRB (2 of 2) 30
  • 50 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10073 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001321 29
  • 54.64 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9471 29 30 31
  • 48.77 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 32 (a)
OneToOne
Species where no ortholog for BLVRB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BLVRB Gene

ENSEMBL:
Gene Tree for BLVRB (if available)
TreeFam:
Gene Tree for BLVRB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLVRB: view image
Alliance of Genome Resources:
Additional Orthologs for BLVRB

Paralogs for BLVRB Gene

Pseudogenes.org Pseudogenes for BLVRB Gene

genes like me logo Genes that share paralogs with BLVRB: view

No data available for Paralogs for BLVRB Gene

Variants for BLVRB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BLVRB Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs11547746 Likely Benign: not provided 40,458,488(-) C/Tp.Arg46Gln
NM_000713.3(BLVRB):c.137G>A (p.Arg46Gln)
MISSENSE
rs142505402 Benign: not provided 40,458,237(-) C/G
NM_000713.3(BLVRB):c.252G>C (p.Thr84=)
SYNONYMOUS
rs145609085 Likely Benign: not provided 40,451,409(-) G/C
NM_000713.3(BLVRB):c.418C>G (p.Arg140Gly)
MISSENSE
rs747352017 Likely Benign: not provided 40,458,478(-) G/A
NM_000713.3(BLVRB):c.147C>T (p.His49=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BLVRB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BLVRB Gene

Variant ID Type Subtype PubMed ID
esv2658680 CNV deletion 23128226
esv3644348 CNV loss 21293372
esv3644349 CNV loss 21293372
esv3644350 CNV loss 21293372
nsv833831 CNV loss 17160897

Variation tolerance for BLVRB Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLVRB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLVRB
Leiden Open Variation Database (LOVD)
BLVRB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLVRB Gene

Disorders for BLVRB Gene

MalaCards: The human disease database

(12) MalaCards diseases for BLVRB Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cauda equina syndrome
  • cauda equina
pyloric stenosis
achalasia
  • achalasia of cardia
hypoganglionosis
  • intestinal hypoganglionosis
dystrophinopathies
  • dystrophinopathy
- elite association - COSMIC cancer census association via MalaCards
Search BLVRB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BLVRB

genes like me logo Genes that share disorders with BLVRB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BLVRB Gene

Publications for BLVRB Gene

  1. Computational and experimental studies on the catalytic mechanism of biliverdin-IXbeta reductase. (PMID: 18241201) Smith LJ … Mantle TJ (The Biochemical journal 2008) 3 4 22
  2. Structure of human biliverdin IXbeta reductase, an early fetal bilirubin IXbeta producing enzyme. (PMID: 11224564) Pereira PJ … Coll M (Nature structural biology 2001) 3 4 22
  3. Molecular cloning and expression of human liver biliverdin-IX beta reductase. (PMID: 8799475) Komuro A … Tomita M (Biological & pharmaceutical bulletin 1996) 3 4 22
  4. Evidence that biliverdin-IX beta reductase and flavin reductase are identical. (PMID: 8687377) Shalloe F … Mantle TJ (The Biochemical journal 1996) 3 4 22
  5. Mapping of the newly identified biliverdin-IX beta reductase gene (BLVRB) to human chromosome 19q13.13-->q13.2 by fluorescence in situ hybridization. (PMID: 7656592) Saito F … Nakajima H (Cytogenetics and cell genetics 1995) 2 3 22

Products for BLVRB Gene

Sources for BLVRB Gene