Gene Gene information from NCBI Gene database.
Entrez ID 644
Gene name Biliverdin reductase A
Gene symbol BLVRA
Synonyms (NCBI Gene)
BLVRBVRBVRABVRalpha
Chromosome 7
Chromosome location 7p13
Summary 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. Alternativel
miRNA miRNA information provided by mirtarbase database.
88
miRTarBase ID miRNA Experiments Reference
MIRT050960 hsa-miR-17-5p CLASH 23622248
MIRT713067 hsa-miR-4688 HITS-CLIP 19536157
MIRT713066 hsa-miR-6743-5p HITS-CLIP 19536157
MIRT713065 hsa-miR-3681-5p HITS-CLIP 19536157
MIRT713064 hsa-miR-6849-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004074 Function Biliverdin reductase [NAD(P)H] activity IBA
GO:0004074 Function Biliverdin reductase [NAD(P)H] activity IDA 7929092, 8424666, 8631357, 10858451
GO:0004074 Function Biliverdin reductase [NAD(P)H] activity IEA
GO:0005515 Function Protein binding IPI 18463290, 25416956, 29892012, 31515488
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109750 1062 ENSG00000106605
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53004
Protein name Biliverdin reductase A (BVR A) (EC 1.3.1.24) (Biliverdin-IX alpha-reductase)
Protein function Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IXalpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor (PubMed:10858451, PubMed:7929092, PubMed:8424666, PubMed:8631357). Does not reduce bilirubin I
PDB 2H63
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01408 GFO_IDH_MocA 9 125 Oxidoreductase family, NAD-binding Rossmann fold Family
PF09166 Biliv-reduc_cat 133 245 Biliverdin reductase, catalytic Domain
Tissue specificity TISSUE SPECIFICITY: Liver. {ECO:0000269|PubMed:7929092, ECO:0000269|PubMed:8424666}.
Sequence
Sequence length 296
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Porphyrin metabolism
Metabolic pathways
  Heme degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hyperbiliverdinemia Likely pathogenic; Pathogenic rs747902950, rs387906595, rs387906596 RCV001331360
RCV000022451
RCV000022452
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BLVRA-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 27740521
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21241799 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22549002, 34367470 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 31704097
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27740521 Stimulate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 35910837 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Childhood Hepatocellular Carcinoma Liver carcinoma BEFREE 27740521
★☆☆☆☆
Found in Text Mining only
Cholangitis Sclerosing Sclerosing cholangitis Pubtator 39683940 Associate
★☆☆☆☆
Found in Text Mining only
Cholelithiasis Cholelithiasis HPO_DG
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis CTD_human_DG 18706437
★★☆☆☆
Found in Text Mining + Unknown/Other Associations