ENSG00000151632


Homo sapiens

Features
Gene ID: ENSG00000151632
  
Biological name :AKR1C2
  
Synonyms : AKR1C2 / aldo-keto reductase family 1 member C2 / P52895
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: p15.1
Gene start: 4987400
Gene end: 5018031
  
Corresponding Affymetrix probe sets: 1555854_at (Human Genome U133 Plus 2.0 Array)   204151_x_at (Human Genome U133 Plus 2.0 Array)   209699_x_at (Human Genome U133 Plus 2.0 Array)   211653_x_at (Human Genome U133 Plus 2.0 Array)   216594_x_at (Human Genome U133 Plus 2.0 Array)   244266_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000474566
Ensembl peptide - ENSP00000370129
Ensembl peptide - ENSP00000392694
Ensembl peptide - ENSP00000408440
NCBI entrez gene - 1646     See in Manteia.
OMIM - 600450
RefSeq - NM_001321027
RefSeq - NM_001135241
RefSeq - NM_001354
RefSeq - NM_205845
RefSeq Peptide - NP_001345
RefSeq Peptide - NP_001128713
RefSeq Peptide - NP_001307956
RefSeq Peptide - NP_995317
swissprot - P52895
swissprot - B4DK69
swissprot - S4R3P0
Ensembl - ENSG00000151632
  
Related genetic diseases (OMIM): 614279 - 46XY sex reversal 8, 614279
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)
Ortholog nameID Species
 Akr1c12ENSMUSG00000021211Mus musculus
 Akr1c14ENSMUSG00000033715Mus musculus
 Akr1c19ENSMUSG00000071551Mus musculus
 Akr1c20ENSMUSG00000054757Mus musculus
 Akr1c6ENSMUSG00000021210Mus musculus
 Akr1clENSMUSG00000025955Mus musculus
 Q8K023ENSMUSG00000021214Mus musculus
 Q8VC28ENSMUSG00000021213Mus musculus
 Q91WR5ENSMUSG00000021207Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AKR1C1 / Q04828 / aldo-keto reductase family 1 member C1ENSG0000018713498
AKR1C3 / P42330 / aldo-keto reductase family 1 member C3ENSG0000019613987
AKR1C4 / P17516 / aldo-keto reductase family 1 member C4ENSG0000019861081
AKR1D1 / P51857 / aldo-keto reductase family 1 member D1ENSG0000012278758
O60218 / AKR1B10 / aldo-keto reductase family 1 member B10ENSG0000019807448
AKR1B1 / P15121 / aldo-keto reductase family 1 member BENSG0000008566248
C9JRZ8 / AKR1B15 / aldo-keto reductase family 1 member B15ENSG0000022747145
AKR1A1 / P14550 / aldo-keto reductase family 1 member A1ENSG0000011744842
AKR1E2 / Q96JD6 / aldo-keto reductase family 1 member E2ENSG0000016556842


Protein motifs (from Interpro)
Interpro ID Name
 IPR018170  Aldo/keto reductase, conserved site
 IPR020471  Aldo/keto reductase
 IPR023210  NADP-dependent oxidoreductase domain
 IPR036812  NADP-dependent oxidoreductase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006693 prostaglandin metabolic process IDA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IDA
 biological_processGO:0007586 digestion IDA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008284 positive regulation of cell proliferation IDA
 biological_processGO:0030855 epithelial cell differentiation IEP
 biological_processGO:0042448 progesterone metabolic process IDA
 biological_processGO:0044597 daunorubicin metabolic process IMP
 biological_processGO:0044598 doxorubicin metabolic process IMP
 biological_processGO:0051897 positive regulation of protein kinase B signaling IDA
 biological_processGO:0055114 oxidation-reduction process IDA
 biological_processGO:0071395 cellular response to jasmonic acid stimulus IDA
 biological_processGO:0071799 cellular response to prostaglandin D stimulus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0004032 alditol:NADP+ 1-oxidoreductase activity IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
 molecular_functionGO:0018636 phenanthrene 9,10-monooxygenase activity IDA
 molecular_functionGO:0031406 carboxylic acid binding IDA
 molecular_functionGO:0032052 bile acid binding IDA
 molecular_functionGO:0047086 ketosteroid monooxygenase activity IDA
 molecular_functionGO:0047115 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
Show

 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
Show

 HP:0000037 Male pseudohermaphroditism "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators]
Show

 HP:0000062 Ambiguous genitalia 
Show

 HP:0012245 Sex reversal "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr