The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] See more...

Aliases for BLVRA Gene

Aliases for BLVRA Gene

  • Biliverdin Reductase A 2 3 4 5
  • Biliverdin-IX Alpha-Reductase 3 4
  • BVR A 3 4
  • BLVR 3 4
  • BVR 3 4
  • Testis Tissue Sperm-Binding Protein Li 61n 3
  • EC 1.3.1.24 4
  • BLVRA 5
  • BVRA 3

External Ids for BLVRA Gene

Previous HGNC Symbols for BLVRA Gene

  • BLVR

Previous GeneCards Identifiers for BLVRA Gene

  • GC07P043444
  • GC07P043539
  • GC07P043571
  • GC07P043764
  • GC07P043683
  • GC07P043798

Summaries for BLVRA Gene

Entrez Gene Summary for BLVRA Gene

  • The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for BLVRA Gene

BLVRA (Biliverdin Reductase A) is a Protein Coding gene. Diseases associated with BLVRA include Hyperbiliverdinemia and Cholestasis. Among its related pathways are IL-10 Pathway and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and biliverdin reductase activity. An important paralog of this gene is DHDH.

UniProtKB/Swiss-Prot Summary for BLVRA Gene

  • Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.

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

Genomics for BLVRA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BLVRA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the BLVRA gene promoter:
  • AML1a
  • c-Myc
  • E47
  • Hand1
  • Lmo2
  • Max1
  • Nkx2-2
  • RFX1
  • Sox5
  • TBP

Genomic Locations for BLVRA Gene

Latest Assembly
chr7:43,758,122-43,807,342
(GRCh38/hg38)
Size:
49,221 bases
Orientation:
Plus strand

Previous Assembly
chr7:43,798,279-43,846,941
(GRCh37/hg19 by Entrez Gene)
Size:
48,663 bases
Orientation:
Plus strand

chr7:43,798,279-43,846,939
(GRCh37/hg19 by Ensembl)
Size:
48,661 bases
Orientation:
Plus strand

Genomic View for BLVRA Gene

Genes around BLVRA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BLVRA Gene

Proteins for BLVRA Gene

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

    Protein Symbol:
    P53004-BIEA_HUMAN
    Recommended name:
    Biliverdin reductase A
    Protein Accession:
    P53004
    Secondary Accessions:
    • A8K747
    • O95019
    • Q86UX0
    • Q96QL4
    • Q9BRW8

    Protein attributes for BLVRA Gene

    Size:
    296 amino acids
    Molecular mass:
    33428 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • Uses the reactants NADH or NADPH depending on the pH; NADH is used at the acidic pH range (6-6.9) and NADPH at the alkaline range (8.5-8.7). NADPH, however, is the probable reactant in biological systems.

    Three dimensional structures from OCA and Proteopedia for BLVRA Gene

neXtProt entry for BLVRA Gene

Post-translational modifications for BLVRA Gene

  • Ubiquitination at Lys219, Lys234, Lys253, Lys261, and Lys269
  • Modification sites at PhosphoSitePlus

Other Protein References for BLVRA Gene

No data available for DME Specific Peptides for BLVRA Gene

Domains & Families for BLVRA Gene

Gene Families for BLVRA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BLVRA Gene

GenScript: Design optimal peptide antigens:
  • Biliverdin-IX alpha-reductase (BIEA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53004

UniProtKB/Swiss-Prot:

BIEA_HUMAN :
  • Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily.
Family:
  • Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily.
genes like me logo Genes that share domains with BLVRA: view

Function for BLVRA Gene

Molecular function for BLVRA Gene

UniProtKB/Swiss-Prot Function:
Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.
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;.
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;.
GENATLAS Biochemistry:
biliverdin reductase IX alpha,22kDa,expressed in adult liver

Enzyme Numbers (IUBMB) for BLVRA Gene

Phenotypes From GWAS Catalog for BLVRA Gene

Gene Ontology (GO) - Molecular Function for BLVRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004074 biliverdin reductase activity IBA,IDA 10858451
GO:0005515 protein binding IPI 18463290
GO:0008270 zinc ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BLVRA: view
genes like me logo Genes that share phenotypes with BLVRA: view

Human Phenotype Ontology for BLVRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for BLVRA

Inhibitory RNAs for research

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

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for BLVRA Gene

Localization for BLVRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLVRA 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 BLVRA gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BLVRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with BLVRA: view

Pathways & Interactions for BLVRA Gene

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

Pathways by source for BLVRA Gene

1 BioSystems pathway for BLVRA Gene
3 Reactome pathways for BLVRA Gene
1 Qiagen pathway for BLVRA Gene
  • IL-10 Pathway

UniProtKB/Swiss-Prot P53004-BIEA_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoheme degradation.

SIGNOR curated interactions for BLVRA Gene

Activates:

Gene Ontology (GO) - Biological Process for BLVRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042167 heme catabolic process TAS 10858451
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BLVRA: view

Drugs & Compounds for BLVRA Gene

(15) Drugs for BLVRA Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
biliverdin Experimental Pharma 0
NADPH Experimental Pharma 0
NAD Experimental Pharma 0
NADP Experimental Pharma 0

(6) Additional Compounds for BLVRA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Formyl-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
13131-49-2
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with BLVRA: view

Transcripts for BLVRA Gene

mRNA/cDNA for BLVRA Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 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 BLVRA

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

No ASD Table

Relevant External Links for BLVRA Gene

GeneLoc Exon Structure for
BLVRA

Expression for BLVRA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BLVRA Gene

This gene is overexpressed in Spleen (10.2) and Breast (6.4).

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



Protein tissue co-expression partners for BLVRA Gene

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

SOURCE GeneReport for Unigene cluster for BLVRA Gene:

Hs.488143

mRNA Expression by UniProt/SwissProt for BLVRA Gene:

P53004-BIEA_HUMAN
Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for BLVRA Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Muscle(4.5)
  • Heart(2.5)
  • Spleen(2.5)
  • Kidney(2.4)
  • Blood(2.3)
  • Intestine(2.2)
  • Skin(2.2)
  • Lung(2.1)
  • Gall bladder(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BLVRA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
Regions:
Head and neck:
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
General:
  • skin
genes like me logo Genes that share expression patterns with BLVRA: view

No data available for mRNA differential expression in normal tissues for BLVRA Gene

Orthologs for BLVRA Gene

This gene was present in the common ancestor of chordates.

Orthologs for BLVRA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BLVRA 29
  • 100 (n)
Dog
(Canis familiaris)
Mammalia BLVRA 29 30
  • 88.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BLVRA 29 30
  • 88.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Blvra 29
  • 83.62 (n)
Mouse
(Mus musculus)
Mammalia Blvra 29 16 30
  • 83.05 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BLVRA 30
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BLVRA 30
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BLVRA 29 30
  • 62.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BLVRA 30
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia blvra 29
  • 59.85 (n)
Zebrafish
(Danio rerio)
Actinopterygii blvra 29 30
  • 58.02 (n)
OneToOne
Species where no ortholog for BLVRA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 BLVRA Gene

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

Paralogs for BLVRA Gene

Paralogs for BLVRA Gene

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

Variants for BLVRA Gene

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

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1029936 Likely Pathogenic: Hyperbiliverdinemia 43,791,271(+) G/T
NM_000712.4(BLVRA):c.157G>T (p.Gly53Ter)
NONSENSE
rs1050916 Benign: not provided 43,791,281(+) A/Gp.Gln56Arg
NM_000712.4(BLVRA):c.167A>G (p.Gln56Arg)
MISSENSE
rs137968736 Benign: not provided 43,791,360(+) C/T
NM_000712.4(BLVRA):c.246C>T (p.Asp82=)
SYNONYMOUS
rs387906595 Pathogenic: Hyperbiliverdinemia 43,787,943(+) C/T
NM_000712.4(BLVRA):c.52C>T (p.Arg18Ter)
NONSENSE
rs387906596 Pathogenic: Hyperbiliverdinemia 43,788,022(+) C/A
NM_001253823.1(BLVRA):c.131C>A (p.Ser44Ter)
NONSENSE

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

Variant ID Type Subtype PubMed ID
nsv464441 CNV loss 19166990
nsv606745 CNV loss 21841781

Variation tolerance for BLVRA Gene

Residual Variation Intolerance Score: 83.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLVRA Gene

Human Gene Mutation Database (HGMD)
BLVRA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLVRA
Leiden Open Variation Database (LOVD)
BLVRA

SNP Genotyping and Copy Number Assays for research

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

Disorders for BLVRA Gene

MalaCards: The human disease database

(10) MalaCards diseases for BLVRA Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hyperbiliverdinemia
  • hblvd
cholestasis
  • bile occlusion
petroclival meningioma
pneumothorax
acute contagious conjunctivitis
  • contagious opthalmia
- elite association - COSMIC cancer census association via MalaCards
Search BLVRA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BIEA_HUMAN
  • Hyperbiliverdinemia (HBLVD) [MIM:614156]: A condition characterized by a green discoloration of the skin, urine, serum, and other bodily fluids. It is due to increased biliverdin resulting from inefficient conversion to bilirubin. Affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. {ECO:0000269 PubMed:19580635}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for BLVRA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BLVRA: view

No data available for Genatlas for BLVRA Gene

Publications for BLVRA Gene

  1. A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice). (PMID: 19580635) Gåfvels M … Stål P (Liver international : official journal of the International Association for the Study of the Liver 2009) 3 4 22 72
  2. Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han population. (PMID: 19238116) Lin R … Jin L (Pharmacogenetics and genomics 2009) 3 22 40
  3. Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. (PMID: 19243019) Lin R … Jin L (Human mutation 2009) 3 22 40
  4. Cloning and characterization of the cDNA encoding human biliverdin-IX alpha reductase. (PMID: 8950184) Komuro A … Tomita M (Biochimica et biophysica acta 1996) 3 4 22
  5. Human biliverdin IXalpha reductase is a zinc-metalloprotein. Characterization of purified and Escherichia coli expressed enzymes. (PMID: 8631357) Maines MD … McCoubrey WK (European journal of biochemistry 1996) 3 4 22

Products for BLVRA Gene

Sources for BLVRA Gene