AKR1C2

Gene Information
 
Gene Symbol
AKR1C2
 
Aliases
AKR1C-pseudo, BABP, DD, DD-2, DD/BABP, DD2, DDH2, HAKRD, HBAB, MCDR2, SRXY8, TDD
 
Entrez Gene ID
 
Gene Name
Aldo-keto reductase family 1 member C2
 
Chromosomal Location
10p15.1
 
HGNC ID
 
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006693 Biological process Prostaglandin metabolic process IDA 8573067
GO:0007186 Biological process G protein-coupled receptor signaling pathway IDA 18508192
GO:0007586 Biological process Digestion IDA 8573067
GO:0008202 Biological process Steroid metabolic process IBA 21873635
GO:0008202 Biological process Steroid metabolic process IDA 8573067
Protein Information
 
Protein Name
Aldo-keto reductase family 1 member C2, 3-alpha-HSD3, chlordecone reductase homolog HAKRD, dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III, pseudo-chlordecone reductase, testicular 17,20-desmolase deficiency, trans-1,2-dihydrobenzene-1,2-diol dehydrogenase, type II dihydrodiol dehydrogenase
 
Function
Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability.
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00248 Aldo_ket_red
Pathways
 
KEGG
 
Reactome
 

Steroid hormone biosynthesis
Chemical carcinogenesis

 

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

Interactions
 
STRING MINT IntAct
P30711
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
Male Pseudohermaphroditism
Intersex Conditions
Ambiguous Genitalia
Disorders of Sex Development
Sex Differentiation Disorders
References
 

The expression of sex steroid synthesis and inactivation enzymes in subcutaneous adipose tissue of PCOS patients.

Wang Lihua, Li Shengxian, Zhao Aimin, Tao Tao, Mao Xiuying, Zhang Ping, Liu Wei
Department of Endocrinology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
J Steroid Biochem Mol Biol. 2012 Oct;132(1-2):120-6. doi:

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