ENSG00000106605
Homo sapiens | |
Features
| Gene ID: | ENSG00000106605 | | | | | Biological name : | BLVRA | | | | | Synonyms : | biliverdin reductase A / BLVRA / P53004 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | 1 | | Band: | p13 | | Gene start: | 43758680 | | Gene end: | 43807342 | | | | | Corresponding Affymetrix probe sets: | 203771_s_at (Human Genome U133 Plus 2.0 Array) 203772_at (Human Genome U133 Plus 2.0 Array) 203773_x_at (Human Genome U133 Plus 2.0 Array) 211729_x_at (Human Genome U133 Plus 2.0 Array) 229109_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000385757
Ensembl peptide - ENSP00000412005
Ensembl peptide - ENSP00000265523
NCBI entrez gene - 644
See in Manteia.
OMIM - 109750
RefSeq - XM_017012520
RefSeq - NM_000712
RefSeq - NM_001253823
RefSeq - XM_011515474
RefSeq Peptide - NP_000703
RefSeq Peptide - NP_001240752
swissprot - C9J1E1
swissprot - P53004
swissprot - A0A140VJF4
Ensembl - ENSG00000106605
| | | | | Related genetic diseases (OMIM): | 614156 - Hyperbiliverdinemia, 614156 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001081 | Cholelithiasis | |
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| | HP:0001396 | Cholestasis | |
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| | HP:0001410 | Decreased liver function | |
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Interacting proteins (from Reactome)
No match
0 s.
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