BLVRB
protein-codingbiliverdin reductase B, the group of Short chain dehydrogenase/reductase superfamily
Gene summary
Enables biliverdin reductase [NAD(P)H] activity; peptidyl-cysteine S-nitrosylase activity; and riboflavin reductase (NADPH) activity. Involved in heme catabolic process; megakaryocyte differentiation; and negative regulation of insulin receptor signaling pathway. Located in cytosol. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- FLR
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~18.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to BLVRB variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000713.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 1 | 3 | ||
| missense | 47 | 5 | 52 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 51 | 6 | 1 | 58 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000704.1 | 5 | MANE Select | |
| Ensembl | ENSP00000263368.3 | 5 | MANE Select | |
| Ensembl | ENSP00000471720.1 | 4 | Standard | |
| Ensembl | ENSP00000471720.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Riboflavin metabolism - Homo sapiens (human)
- Porphyrin and chlorophyll metabolism - Homo sapiens (human)
- Methylene Blue Pathway, Pharmacodynamics
- Nuclear Receptors Meta-Pathway
- NRF2 pathway
Biological Process
- heme catabolic process
- oxidation-reduction process
Molecular Function
- biliverdin reductase activity
- riboflavin reductase (NADPH) activity
Cellular Component
- nucleoplasm
- cytosol
- plasma membrane
- terminal bouton
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000263368
- Coding exons
- 5
- Length
- 18052
- Individuals with no LoFs
- 125637
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 101
- Defined
- 125739
- p
- 0.000406
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.452 | 114 | 128 | 0.888 | 0.00000767 | 1280 |
| Missense (PolyPhen) | 37 | 44.641 | 0.82883 | 490 | ||
| Synonymous | 0.752 | 51 | 58.3 | 0.875 | 0.00000380 | 449 |
| Loss of Function | -0.111 | 8 | 7.67 | 1.04 | 4.25e-7 | 83 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00074 | 0.00068 | rare |
| Latino/Admixed American | 0.000059 | 0.000058 | rare |
| Ashkenazi Jewish | 0.0022 | 0.0022 | notable |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00012 | 0.00011 | rare |
| South Asian | 0.0018 | 0.0016 | notable |
| Other | 0.00066 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- 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. {ECO:0000269|PubMed:10620517}.;
Recessive Scores
- pRec
- 0.242
Intolerance Scores
- LoFtool
- 0.756
- RVIS EVS
- 0.31
- RVIS percentile EVS
- 72.38
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.917
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |