• Gene id: 645

Gene Summary

• Gene Symbol: BLVRB   Gene   UCSC   Ensembl
• Aliases: BVRB, FLR, HEL-S-10, SDR43U1
• Gene name: biliverdin reductase B
• Alternate names: flavin reductase (NADPH), BVR-B, FR, GHBP, NADPH-dependent diaphorase, NADPH-flavin reductase, biliverdin-IX beta-reductase, epididymis secretory protein Li 10, green heme-binding protein, short chain dehydrogenase/reductase family 43U, member 1,
• Gene location: 19q13.2 (40465744: 40447767)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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]
• OMIM: 600941

SNPs

rs2303846

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.82544529G>A
NC_000015.9   g.82828937G>A
NG_009890.2   g.1016C>T
NT_187606.1   g.333634G>A
NM_030594.4   c.*63C>T
NM_030594.5   c.*63C>T
NM_030594.3   c.*63C>T
NM_001365240.1   c.*63C>T
NM_001288819.1   c.*63C>T
NM_001365242.1   c.*63C>T
NM_001365246.1   c

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs72609647

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.12678428T>G
NC_000024.9   g.14790357T>G|SEQ=[T/G]|GENE=TTTY15

Protein Summary

• Protein general information: P30043  
  • Name: Flavin reductase (NADPH) (FR) (EC 1.5.1.30) (Biliverdin reductase B) (BVR B) (EC 1.3.1.24) (Biliverdin IX beta reductase) (Green heme binding protein) (GHBP) (NADPH dependent diaphorase) (NADPH flavin reductase) (FLR)
  • Length: 206  
  • Mass: 22119
  • Tissue specificity: Predominantly expressed in liver and erythrocytes. At lower levels in heart, lung, adrenal gland and cerebrum. {ECO
• Sequence:

  MAVKKIAIFGATGQTGLTTLAQAVQAGYEVTVLVRDSSRLPSEGPRPAHVVVGDVLQAADVDKTVAGQDAVIVLL
  GTRNDLSPTTVMSEGARNIVAAMKAHGVDKVVACTSAFLLWDPTKVPPRLQAVTDDHIRMHKVLRESGLKYVAVM
  PPHIGDQPLTGAYTVTLDGRGPSRVISKHDLGHFMLRCLTTDEYDGHSTYPSHQYQ

• Structural information:
  • Interpro: IPR016040  IPR036291  
  • PDB: 1HDO 1HE2 1HE3 1HE4 1HE5 5OOG 5OOH
  • PDBsum: 1HDO 1HE2 1HE3 1HE4 1HE5 5OOG 5OOH
  • STRING: ENSP00000263368
• Other Databases: GeneCards:  BLVRB  Malacards:  BLVRB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IDA	cellular component
GO:0042602	riboflavin reductase (NADPH) activity	IDA	molecular function
GO:0042167	heme catabolic process	IDA	biological process
GO:0004074	biliverdin reductase activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004074	biliverdin reductase activity	TAS	molecular function
GO:0042602	riboflavin reductase (NADPH) activity	IEA	molecular function
GO:0004074	biliverdin reductase activity	IEA	molecular function
GO:0042167	heme catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043195	terminal bouton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00860	Porphyrin and chlorophyll metabolism
hsa00740	Riboflavin metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)