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AKR1C2 aldo-keto reductase family 1 member C2 [ Homo sapiens (human) ]

Gene ID: 1646, updated on 3-Jan-2019

Summary

Official Symbol
AKR1C2provided by HGNC
Official Full Name
aldo-keto reductase family 1 member C2provided by HGNC
Primary source
HGNC:HGNC:385
See related
Ensembl:ENSG00000151632 MIM:600450
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DD; DD2; TDD; BABP; DD-2; DDH2; HBAB; HAKRD; MCDR2; SRXY8; DD/BABP; AKR1C-pseudo
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]
Expression
Biased expression in fat (RPKM 84.8), liver (RPKM 37.2) and 10 other tissues See more

Genomic context

See AKR1C2 in Genome Data Viewer
Location:
10p15.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (4987775..5018033, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5029967..5060225, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2775 Neighboring gene aldo-keto reductase family 1 member C1 Neighboring gene uncharacterized LOC101928051 Neighboring gene uncharacterized LOC107984198 Neighboring gene aldo-keto reductase family 1 member C3 Neighboring gene aldo-keto reductase family 1 member C8, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Benzo(a)pyrene metabolism, organism-specific biosystem (from WikiPathways)
    Benzo(a)pyrene metabolism, organism-specific biosystem
    Benzo(a)pyrene metabolism
  • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
    Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
  • Chemical carcinogenesis, organism-specific biosystem (from KEGG)
    Chemical carcinogenesis, organism-specific biosystemIt has been estimated that exposure to environmental chemical carcinogens may contribute significantly to the causation of a sizable fraction, perhaps a majority, of human cancers. Human carcinogens ...
  • Chemical carcinogenesis, conserved biosystem (from KEGG)
    Chemical carcinogenesis, conserved biosystemIt has been estimated that exposure to environmental chemical carcinogens may contribute significantly to the causation of a sizable fraction, perhaps a majority, of human cancers. Human carcinogens ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    Metapathway biotransformation, organism-specific biosystem
    Metapathway biotransformation
  • Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
    Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Steroid hormone biosynthesis, conserved biosystem (from KEGG)
    Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Synthesis of bile acids and bile salts, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily (Russell 2003). The major pathway for bile salt synthesis in the liver begins with the conversion of cholesterol...
  • Synthesis of bile acids and bile salts via 24-hydroxycholesterol, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol, organism-specific biosystemIn the body, 24-hydroxycholesterol is synthesized in the brain, exported to the liver, and converted there to bile acids and bile salts. This pathway is only a minor source of bile acids and bile sal...
  • Synthesis of bile acids and bile salts via 27-hydroxycholesterol, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol, organism-specific biosystemIn the body, 27-hydroxycholesterol is synthesized in multiple tissues, exported to the liver, and converted there to bile acids and bile salts. This pathway is only a minor source of bile acids and b...
  • Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, organism-specific biosystemIn the liver, synthesis of bile acids and bile salts is initiated with the conversion of cholesterol to 7alpha-hydroxycholesterol and of 7alpha-hydroxycholesterol to 4-cholesten-7alpha-ol-3-one. The ...
  • allopregnanolone biosynthesis, organism-specific biosystem (from BIOCYC)
    allopregnanolone biosynthesis, organism-specific biosystemGeneral Background : 3-BETA-HYDROXY-5-ALPHA-PREGNANE-20-ONE is a neuroactive steroid which is a steroid that is able to regulate neural functions. It is derived from : PROGESTERONE and is synthesiz...
  • allopregnanolone biosynthesis, conserved biosystem (from BIOCYC)
    allopregnanolone biosynthesis, conserved biosystemGeneral Background |FRAME: 3-BETA-HYDROXY-5-ALPHA-PREGNANE-20-ONE Allopregnanolone| is a neuroactive steroid which is a steroid that is able to regulate neural functions. It is derived from |FRAME:...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ53800

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
bile acid binding IDA
Inferred from Direct Assay
more info
PubMed 
carboxylic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
ketosteroid monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ketosteroid monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
Inferred from Direct Assay
more info
PubMed 
phenanthrene 9,10-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
steroid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to jasmonic acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to prostaglandin D stimulus IDA
Inferred from Direct Assay
more info
PubMed 
daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
digestion IDA
Inferred from Direct Assay
more info
PubMed 
doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
progesterone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
prostaglandin metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
aldo-keto reductase family 1 member C2
Names
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
NP_001128713.1
NP_001307956.1
NP_001345.1
NP_995317.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031852.1 RefSeqGene

    Range
    4983..35241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135241.2NP_001128713.1  aldo-keto reductase family 1 member C2 isoform 2

    See identical proteins and their annotated locations for NP_001128713.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks multiple 3' coding exons, and includes a different terminal exon compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK296686, BC063574
    Consensus CDS
    CCDS44350.1
    UniProtKB/Swiss-Prot
    P52895
    Related
    ENSP00000408440.1, ENST00000455190.2
    Conserved Domains (2) summary
    COG0656
    Location:8132
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:17119
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  2. NM_001321027.1NP_001307956.1  aldo-keto reductase family 1 member C2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK296419, AL713867, BU609072, DA438648
    Consensus CDS
    CCDS81438.1
    UniProtKB/TrEMBL
    B4DK69
    Related
    ENSP00000392694.2, ENST00000421196.7
    Conserved Domains (2) summary
    COG0656
    Location:8279
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:17271
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  3. NM_001354.5NP_001345.1  aldo-keto reductase family 1 member C2 isoform 1

    See identical proteins and their annotated locations for NP_001345.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL391427, AL713867, BC007024, CA450425, DA451165, DA458030
    Consensus CDS
    CCDS7062.1
    UniProtKB/Swiss-Prot
    P52895
    Conserved Domains (1) summary
    COG0656
    Location:8305
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  4. NM_205845.2NP_995317.1  aldo-keto reductase family 1 member C2 isoform 1

    See identical proteins and their annotated locations for NP_995317.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL713867, BC007024, BC063574, CA450425, DA451165
    Consensus CDS
    CCDS7062.1
    UniProtKB/Swiss-Prot
    P52895
    Related
    ENSP00000370129.4, ENST00000380753.8
    Conserved Domains (1) summary
    COG0656
    Location:8305
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    4987775..5018033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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