• Gene id: 644

Gene Summary

• Gene Symbol: BLVRA   Gene   UCSC   Ensembl
• Aliases: BLVR, BVR, BVRA
• Gene name: biliverdin reductase A
• Alternate names: biliverdin reductase A, BVR A, biliverdin-IX alpha-reductase, testis tissue sperm-binding protein Li 61n,
• Gene location: 7p13 (43758121: 43807341)     Exons: 12     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 109750

SNPs

rs397515565

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

NC_000017.11   g.74310164G>A
NC_000017.11   g.74310164G>C
NC_000017.11   g.74310164G>T
NC_000017.10   g.72306303G>A
NC_000017.10   g.72306303G>C
NC_000017.10   g.72306303G>T
NG_016865.1   g.40918G>A
NG_016865.1   g.40918G>C
NG_016865.1   g.40918G>T|SEQ=[G/A/C/T]|GENE=

rs137852998

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

NC_000017.11   g.74299780C>G
NC_000017.11   g.74299780C>T
NC_000017.10   g.72295919C>G
NC_000017.10   g.72295919C>T
NG_016865.1   g.30534C>G
NG_016865.1   g.30534C>T
NM_023036.5   c.787C>G
NM_023036.5   c.787C>T
NM_023036.6   c.787C>G
NM_023036.6   c.787C>T
NM_023036.4  

rs13265504

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

NC_000008.11   g.3674977G>A
NC_000008.11   g.3674977G>C
NC_000008.11   g.3674977G>T
NC_000008.10   g.3532499G>A
NC_000008.10   g.3532499G>C
NC_000008.10   g.3532499G>T|SEQ=[G/A/C/T]|GENE=CSMD1

rs13206743

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

NC_000006.12   g.52152310T>C
NC_000006.11   g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1

rs12520985

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

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

rs1399645

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

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

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

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

Protein Summary

• Protein general information: P53004  
  • Name: Biliverdin reductase A (BVR A) (EC 1.3.1.24) (Biliverdin IX alpha reductase)
  • Length: 296  
  • Mass: 33428
  • Tissue specificity: Liver.
• Sequence:

  MNAEPERKFGVVVVGVGRAGSVRMRDLRNPHPSSAFLNLIGFVSRRELGSIDGVQQISLEDALSSQEVEVAYICS
  ESSSHEDYIRQFLNAGKHVLVEYPMTLSLAAAQELWELAEQKGKVLHEEHVELLMEEFAFLKKEVVGKDLLKGSL
  LFTAGPLEEERFGFPAFSGISRLTWLVSLFGELSLVSATLEERKEDQYMKMTVCLETEKKSPLSWIEEKGPGLKR
  NRYLSFHFKSGSLENVPNVGVNKNIFLKDQNIFVQKLLGQFSEKELAAEKKRILHCLGLAEEIQKYCCSRK

• Structural information:
  • Interpro: IPR017094  IPR015249  IPR036291  IPR000683  
  • PDB: 2H63
  • PDBsum: 2H63
  • DIP: 42180
  • STRING: ENSP00000385757
• Other Databases: GeneCards:  BLVRA  Malacards:  BLVRA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004074	biliverdin reductase activity	IBA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004074	biliverdin reductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0042167	heme catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004074	biliverdin reductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0004074	biliverdin reductase activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042167	heme catabolic process	TAS	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Hyperbiliverdinemia	KEGG:H01936
Hyperbiliverdinemia	KEGG:H01936
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)